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Background:

Cancer is the general name for a group of more than 100 diseases. Although there are many kinds of cancer, all cancers start because abnormal cells grow out of control. Untreated cancers can cause serious illness and death.

Causes:

Cancer starts when cells in a part of the body start to grow out of control. Cancer cell growth is different from normal cell growth. Instead of dying, cancer cells continue to grow and form new, abnormal cells. Cells become cancer cells because of DNA damage. DNA is in every cell and it directs all the cell’s actions. In cancer cells, the damaged DNA is not repaired, and the cell doesn’t die like it should. Instead, the cell goes on making new cells that the body doesn’t need. These new cells all have the same abnormal DNA as the first cell does. People can inherit abnormal DNA, but most DNA damage is caused by mistakes that happen while the normal cell is reproducing or by something in the environment. Sometimes the cause of the DNA damage may be something obvious like cigarette smoking or sun exposure. But it’s rare to know exactly what caused any one person’s cancer.

Symptoms:

Most people with cancer will lose weight as some point. When you lose weight for no known reason, it’s called an unexplained weight loss. An unexplained weight loss of 10 pounds or more may be the first sign of cancer. This happens most often with cancers of the pancreas, stomach, esophagus, or lung. 

Fever is very common with cancer, but it more often happens after cancer has spread from where it started. Almost all patients with cancer will have fever at some time, especially if the cancer or its treatment affects the immune system. Less often, fever may be an early sign of cancer, such as blood cancers like leukemia or lymphoma.

Fatigue is extreme tiredness that does not get better with rest. It may be an important symptom as cancer grows. It may happen early, though, in some cancers, like leukemia. Some colon or stomach cancers can cause blood loss that’s not obvious.

Pain may be an early symptom with some cancers like bone cancers or testicular cancer. A headache that does not go away or get better with treatment may be a symptom of a brain tumor. Back pain can be a symptom of cancer of the colon, rectum, or ovary. Most often, pain due to cancer means it has already spread (metastasized) from where it started.

Along with cancers of the skin, some other cancers can cause skin changes that can be seen. These signs and symptoms include:

  • Darker looking skin
  • Yellowish skin and eyes
  • Reddened skin
  • Itching
  • Excessive hair growth

Diagnosis:

  • Physical exam. Your doctor may feel areas of your body for lumps that may indicate a tumor. During a physical exam he or she may look for abnormalities, such as changes in skin color or enlargement of an organ that may indicate the presence of cancer.
  • Laboratory tests, such as urine and blood tests, may help your doctor identify abnormalities that can be caused by cancer. For instance, in people with leukemia, a common blood test called complete blood count (CBC) may reveal an unusual number of white blood cells.
  • Imaging tests. Imaging tests allow your doctor to examine your bones and internal organs in a noninvasive way. Imaging tests used in diagnosing cancer may include computerized tomography (CT) scan, bone scan, magnetic resonance imaging (MRI), ultrasound and X-ray, among others.
  • Biopsy. During a biopsy, your doctor collects a sample of cells for testing in the laboratory. In most cases, a biopsy is the only way to definitively diagnose cancer. 

Treatment:

  • Surgery. Surgery can be used to diagnose, treat, or even help prevent cancer in some cases. Most people with cancer will have some type of surgery. It often offers the greatest chance for cure, especially if the cancer has not spread to other parts of the body.
  • Chemotherapy. Chemotherapy (chemo) is the use of medicines or drugs to treat cancer. Chemo may be used to:
    • Keep the cancer from spreading.
    • Slow the cancer’s growth.
    • Kill cancer cells that may have spread to other parts of the body.
    • Relieve symptoms such as pain or blockages caused by cancer.
    • Cure cancer
  • Radiation Therapy. Radiation Therapy uses high-energy particles or waves to destroy or damage cancer cells. It is one of the most common treatments for cancer, either by itself or along with other forms of treatment.
  • Targeted Therapy. Targeted therapy is a newer type of cancer treatment that uses drugs or other substances to more precisely identify and attack cancer cells, usually while doing little damage to normal cells. Targeted therapy is a growing part of many cancer treatment regimens.
  • Immunotherapy. Immunotherapy is treatment that uses your body’s own immune system to help fight cancer.
  • Hyperthermia. The idea of using heat to treat cancer has been around for some time, but early attempts had mixed results. Today, newer tools allow more precise delivery of heat, and hyperthermia is being studied for use against many types of cancer.
  • Stem Cell Transplant (Peripheral Blood, Bone Marrow, and Cord Blood Transplants)
  • Photodynamic Therapy. Photodynamic therapy or PDT is a treatment that uses special drugs, called photosensitizing agents, along with light to kill cancer cells. The drugs only work after they have been activated or “turned on” by certain kinds of light.
  • Lasers in Cancer Treatment. Lasers, which are very powerful, precise beams of light, can be used instead of blades (scalpels) for very careful surgical work, including treating some cancers.
  • Blood Product Donation and Transfusion. Transfusions of blood and blood products temporarily replace parts of the blood when a person’s body can’t make its own or has lost them from bleeding.

Complications:

Cancer and its treatment can cause several complications, including:

  • Pain. Pain can be caused by cancer of by cancer treatment. Medications and other approaches can effectively treat cancer-related pain.
  • Fatigue. Fatigue in people with cancer has many causes, but it can often be managed. Fatigue associated with chemotherapy or radiation therapy treatments is common, but it’s usually temporary. 
  • Difficulty breathing. Cancer or cancer treatment may cause a feeling of being short of breath. Treatments may bring relief.
  • Nausea. Certain cancers and cancer treatments can cause nausea. Medications and other treatments may help you prevent of cope with nausea.
  • Diarrhea or constipation. Cancer and cancer treatment can affect your bowels and cause diarrhea or constipation.
  • Weight loss. Cancer and cancer treatment may cause weight loss
  • Unusual immune system reactions to cancer. In some cases the body’s immune system may react to the presence of cancer by attacking healthy cells. Called paraneoplastic syndromes, these unusual reactions can lead to a variety of signs and symptoms, such as difficulty walking and seizures.
  • Cancer that spreads. As cancer advances, it may spread (metastasize) to other parts of the body. Where cancer spreads depends on the type of cancer.
  • Cancer that returns. Cancer survivors have a risk of cancer recurrence. Some cancers are more likely to recur than others.

Atopic Dermatitis (AD), Chronic Idiopathic Urticaria, Pemphigus Vulgaris, Plaque Psoriasis

Disease State Overview

Chronic inflammatory diseases cause ongoing inflammation in the body, damaging healthy cells of the digestive system, joints, skin, respiratory system, and other organs. Researchers believe that a hyperactive immune response may play a role in these conditions. More research is required to determine what triggers this disruption of the immune system.

Atopic Dermatitis (AD), Chronic Idiopathic Urticaria, Pemphigus Vulgaris, and Plaque Psoriasis are inflammatory diagnoses that mainly affect the skin. Symptoms may include red, dry patches of skin, burning, itching, swelling, blistering, pain and/or sensitivity. In most cases, there are periods of time when the disease is worse, called flares. Then there are periods when symptoms improve, called remissions. Chronic inflammatory dermatologic conditions are not contagious.

Related Symptoms and Health Concerns

If left untreated,

  • rashes on the body may break open, weep fluid and bleed when scratched, making skin vulnerable to infection;
  • skin  may become dry and discolored, and repeated scratching  may cause thickening and hardening;
  • constant itching or pain  may  make it difficult to concentrate, taking a toll on time, energy and money;
  • unmanaged symptoms may  result in poor sleep, causing daytime lethargy, mental status changes and irritation.

Treatment

Most chronic inflammatory diseases have no cure. Lifestyle changes and early treatment may help manage and prevent issues.

Treatment largely depends on the severity of symptoms, as well as other diseases present.  Mild cases of skin inflammation may be treated with topical creams or ointments.

If symptoms are widespread, or joint pain is present along with skin irritation, more aggressive treatment may be required. Depending on the diagnosis, treatment options may include immunosuppressive therapies. These are steroids, methotrexate, or cyclosporine, or immunomodulators. Immunomodulators help lower the body’s hyperactive immune response in the skin and other organs. These are used for moderate to severe disease. 

Suppressing inflammation offers relief from common symptoms. It also allows the skin tissue to heal.

Specialty medications used to treat chronic inflammatory dermatologic conditions include, but are not limited to:

  • Oral immunomodulators
  • Injectable immunomodulator therapies

Treatment Goals

The primary goals of treating inflammatory dermatologic conditions are to:

  • Reduce or eliminate symptomatic disease activity
  • Manage exacerbating conditions, such as depression, anxiety, or sleep loss due to disease symptoms
  • Prevent secondary infections, which may occur as a result of scratching or blistering
  • Prevent flares (maintain remission)
  • Reduce risk of long-term complications, such as involvement of the joints

Strategies to Achieve Treatment Goals

  • Adhere to prescribed therapy
  • Keep appointments, and follow-up with physician
  • Report side effects or unmanaged symptoms to your pharmacist, or healthcare team
  • Avoid known triggers, or irritants, such as: harsh soaps/detergents, perfumes, cosmetics, cigarette smoke, heavy alcohol consumption, and food allergies
  • Use appropriate skin care, such as regular use of hypoallergenic moisturizers for dry skin
  • Practice stress management and relaxation techniques
  • Eat a healthy diet

Additional Resources

https://nationaleczema.org/Eczema/types-of-Eczema/atopic-dermatitis/
https://www.niams.nih.gov/health-topics/atopic-dermatitis/diagnosis-treatment-and-steps-to-take
https://my.clevelandclinic.org/health/diseases/22900-chronic-hives-chronic-idiopathic-urticaria
https://my.clevelandclinic.org/health/diseases/23033-pemphigus-vulgaris
https://www.mayoclinic.org/diseases-conditions/psoriasis/symptoms-causes/syc-20355840

Crohn’s Disease (CD), Short Bowel Syndrome (SBS), Ulcerative Colitis (UC)

Disease State Overview

Chronic inflammatory diseases cause inflammation in the body. This may damage healthy cells of the digestive and respiratory system, joints, skin, and other organs. Researchers believe that a hyperactive immune response may play a role in these conditions. More research is required to determine what triggers this disruption of the immune system.

Crohn’s Disease (CD), Short Bowel Syndrome (SBS), and Ulcerative Colitis (UC) are inflammatory diagnoses that mainly affect the intestines and bowels. Symptoms include poor absorption, diarrhea, rectal bleeding, abdominal pain and cramps, urgency, and/or constipation.  Diet and stress may intensify, but do not cause, the disease.  In most cases, there are periods of time when the disease is worse, called flares. Then there are periods when symptoms improve, called remissions. 

Related Symptoms and Health Concerns

If left untreated,

  • constipation  may lead to bowel obstruction;
  • severe diarrhea  may lead to dehydration;
  • fissures  may develop, which cause pain and bleeding;
  • systemic issues may develop, including malnutrition, swollen and painful joints, swelling in the extremities, sores and rashes on the skin, osteoporosis, and kidney stones;
  • unmanaged symptoms  may  result in loss of appetite, weight loss, delayed growth and development, and poor sleep, causing daytime lethargy, mental status changes and irritation.

Treatment

Most chronic inflammatory diseases have no cure. Lifestyle changes and early treatment may  help manage and prevent issues. Treatment largely depends on the severity of symptoms.

Mild cases of inflammatory GI disease are treated with anti-inflammatory medications. These medications include corticosteroids and aminosalicylates. If symptoms are widespread, more aggressive medications are explored.

Depending on the diagnosis, treatment options may also include immunosuppressive therapies such as, azathioprine, mercaptopurine, methotrexate, or immunomodulators.  Immunomodulators  may help lower the hyperactive immune response. These are used for moderate to severe disease. Reducing inflammation offers relief from common symptoms. It also allows intestinal tissues to heal.

Specialty medications used to treat chronic inflammatory GI conditions include:

  • Oral immunomodulators
  • Self-Injectable immunomodulator therapies
  • Immunomodulators administered intravenously, by a healthcare professional

Treatment Goals

The primary goals of treating inflammatory GI conditions are:

  • Reduce or eliminate symptomatic disease activity
  • Manage other conditions, such as depression or anxiety.
  • Manage secondary inflammation. These may be from bacteria overgrowth and drainage from fistulas/abscesses
  • Prevent flares (maintain remission)
  • Reduce risk of long-term complications, such as involvement of the joints

Strategies to Achieve Treatment Goals

  • Adhere to prescribed therapy
  • Keep appointments, and follow-up with physician
  • Report side effects or unmanaged symptoms to your pharmacist, or healthcare team
  • Avoid known triggers, such as: cigarette smoke, heavy alcohol consumption, and food sensitivities
  • Practice stress management and relaxation techniques
  • Eat a healthy diet, and avoid certain foods and beverages that may aggravate symptoms

Sources

https://www.crohnscolitisfoundation.org/what-is-crohns-disease
https://www.mayoclinic.org/diseases-conditions/crohns-disease/symptoms-causes/syc-20353304
https://www.mayoclinic.org/diseases-conditions/short-bowel-syndrome/symptoms-causes/syc-20355091
https://rarediseases.org/rare-diseases/short-bowel-syndrome/

Ankylosing Spondylitis (AS), Gout, Psoriatic Arthritis (PsA), Rheumatoid Arthritis (RA), Systemic Lupus Erythematosus (SLE), Systemic Juvenile Idiopathic Arthritis (sJIA)

Disease State Overview

Chronic inflammatory diseases cause ongoing inflammation in the body, damaging healthy cells and tissues of the digestive system, joints, skin, respiratory system, and other organs. Researchers believe that a hyperactive immune response may play a role in these conditions. More research is required to determine what triggers this disruption of the immune system.

Rheumatism refers to diseases that inflame joints, muscles, and connective tissues and is used to cover dozens of different health conditions, a few of which include Ankylosing Spondylitis (AS), Psoriatic Arthritis (PsA), Rheumatoid Arthritis (RA), and Systemic Lupus Erythematosus (SLE).

The most common symptom of rheumatologic inflammatory diseases is joint pain, along with warmth, tenderness, stiffness and swelling. Other symptoms may include feeling unusually tired, having low energy, an occasional fever, loss of appetite, skin rashes and vision changes.  In most cases, there are periods of time when the disease is worse, called flares. Then there are periods when symptoms improve, called remissions. 

Related Symptoms and Health Concerns

If left untreated,

  • joints may become permanently damaged, or deformed;
  • physical disability may hinder activities of daily living, and the ability to be productive at work;
  • mental and social functioning may decline;
  • patients may be at an increased risk of heart, lung and kidney disease, and uveitis (eye pain, sensitivity to light and blurred vision).

Treatment

Most chronic inflammatory diseases have no cure. Lifestyle changes and early treatment may help manage and prevent issues. Treatment largely depends on the severity of symptoms. Research shows that people with rheumatoid arthritis who are diagnosed early and treated aggressively do better over the long-term.

Topical creams or ointments, as well as nonsteroidal anti-inflammatory drugs (NSAIDs), may help with pain and reduce inflammation. If symptoms are widespread, more aggressive treatment may be required. Depending on the diagnosis, treatment options may include immunosuppressive therapies, such as steroids, disease-modifying antirheumatic drugs (DMARDs), or immunomodulators.  Immunomodulators may help  decrease the body’s hyperactive immune response in the skin, joints and other organs.  Suppressing inflammation not only offers relief from common symptoms, it also allows the tissues to heal.

Specialty medications used to treat chronic inflammatory rheumatologic conditions include, but are not limited to:

  • Oral immunomodulators
  • Injectable immunomodulator therapies

Treatment Goals

The primary goals of treating inflammatory rheumatic conditions are to:

  • Reduce or eliminate symptomatic disease activity
  • Manage exacerbating conditions, such as depression, anxiety, or sleep loss due to disease symptoms
  • Prevent flares (maintain remission)
  • Reduce risk of long-term complications, such as bone deformities
  • Maintain as normal a lifestyle as possible.

Strategies to Achieve Treatment Goals

  • Adhere to therapy
  • Keep appointments, and follow-up with physician
  • Report side effects or unmanaged symptoms to your pharmacist, or healthcare team
  • Avoid known triggers, such as: cigarette smoke, heavy alcohol consumption, and food sensitivities
  • Practice stress management and relaxation techniques
  • Participate in regular exercise and physical activity programs
  • Eat a healthy diet, and maintain a healthy weight

Sources

https://www.cdc.gov/arthritis/basics/rheumatoid-arthritis.html
https://www.niams.nih.gov/health-topics/rheumatoid-arthritis
https://www.niams.nih.gov/health-topics/ankylosing-spondylitis
https://www.hopkinsmedicine.org/health/conditions-and-diseases/ankylosing-spondylitis
https://www.cdc.gov/lupus/facts/detailed.html

Growth Hormone Deficiency, Small for Gestational Age, Noonan Syndrome, Turner Syndrome, Idiopathic Short Stature, Prader-Willi Syndrome

Disease State Overview

Growth Hormone Deficiency (GDH) is a rare health condition caused by inadequate amounts of growth hormone produced from the pituitary gland. Typically, growth hormone deficiency occurs in childhood, due to genetic mutations that cause suppression in pituitary gland development or dysregulation of growth hormone production. Adult-onset growth hormone deficiency is often acquired, a result of brain tumors, autoimmune disorders, or physical head trauma.

The most common symptoms of growth hormone deficiency include slow growth, short stature, absent or delayed sexual development during puberty, poor nail growth, and high-pitched voice. Additional symptoms include low blood glucose, increased risk for fractures, fatigue, and increased body fat distribution around the waist.

Related Symptoms and Health Concerns

Early diagnosis and treatment may lead to a greater chance for children to attain a normal adult growth height.

If left untreated, growth hormone deficiency may lead to:

  • Abnormally short stature
  • Low bone density, and an increased risk of bone fractures
  • Irregular metabolism, abnormal cholesterol, blood sugar, and/or blood pressure
  • Chronic fatigue and decreased energy level
  • Increased cardiovascular risk factors such as heart attack, heart failure, irregular heartbeats, and embolisms.

Treatment

Children with growth hormone deficiency may receive injectable synthetic human growth hormone through a specialty pharmacy.  These injectable medications are administered subcutaneously, by the patient or caregiver at home. The dosage starts low and slowly increases to the highest tolerated and optimal dose, based on weight. Most formulations require the patient to inject daily, however next-generation therapies allow for once-weekly injections to improve adherence and convenience. Children usually discontinue therapy when reaching adulthood.

FDA-approved treatments for growth hormone deficiency and other related disorders include but are not limited to: somatropin (Nutropin), Humatrope, Genotropin, Norditropin, and Skytrofa.  It may take between 3 to 6 months to see some growth progress after initiating the growth hormone treatment.

Treatment Goals

The primary goals of treating growth hormone deficiency disorders are to:

  • Replenish the lack of growth hormones
  • Improve quality of life
  • Obtain normal or near adult height
  • Restore normal metabolism 
  • Minimize the likelihood of cardiovascular events

Strategies to Achieve Treatment Goals

  • Adhere to prescribed therapy
  • Keep appointments, and follow-up with physician
  • Report side effects or unmanaged symptoms to your pharmacist, or healthcare team
  • Avoid cigarette smoke, heavy alcohol consumption, and recreational drug use
  • Exercise regularly to promote healthy lifestyle
  • Eat a balanced, nutritional diet

Additional Resources

https://www.childrenshospital.org/conditions/growth-hormone-deficiency
https://www.hopkinsmedicine.org/health/conditions-and-diseases/growth-hormone-deficiency
https://www.endocrine.org/patient-engagement/endocrine-library/growth-hormone-deficiency
https://rarediseases.org/rare-diseases/growth-hormone-deficiency/

Background:

It affects mostly males, as it is an X chromosome linked condition. Hemophilia affects 1 in 5,000 male births in the U.S. and approximately 400 babies are born with hemophilia each year. 400,000 people worldwide are living with hemophilia and about 20,000 are living with it in the United States alone. All races and economic groups are affected equally. People with hemophilia who have access to factor replacement therapy have a normal life expectancy.

Types of Hemophilia

Bleeding disorders are treated differently depending on what protein is missing in the blood. Hemophilia is one of the most common bleeding disorders and is classified as follows:

  • Hemophilia A – Also called classic hemophilia, it is 4 times more common than hemophilia B, and it occurs when factor VIII levels are deficient.
  • Hemophilia B – Also called Christmas disease, it occurs when factor IX levels are deficient.
  • Hemophilia C – It occurs when factor XI levels are deficient
  • Acquired hemophilia – A person can develop hemophilia as a result of illness, medications, or pregnancy. Acquired hemophilia is extremely rare and usually resolves itself with proper diagnosis and treatment.

Causes:

When you’re cut or bleeding internally, your body normally pools blood cells together to form a clot to stop the bleeding. This process is called coagulation. Coagulation involves blood particles called platelets and plasma proteins that encourage clotting (clotting factors). The cause of hemophilia is a deficiency of one of these clotting factors. Which type of hemophilia you have depends on which clotting factor is deficient: 

  • Hemophilia A. The most common type, hemophilia A is caused by lack of enough clotting factor 8 (VIII).
  • Hemophilia B. This second most common type is caused by lack of enough clotting factor 9 (IX).
  • Hemophilia C. This type is caused by a lack of clotting factor 11 (XI), and symptoms are often mild with this type of hemophilia.

Hemophilia inheritance:

  • Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from their mother and an X chromosome from their father. Males inherit an X chromosome from their mother and a Y chromosome from their father. 
  • The gene that causes hemophilia A or B is located on the X chromosome, so it can’t be passed from father to son. Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother’s genes. Most women who have the defective gene are simply carriers and exhibit no signs or symptoms of hemophilia. It’s also possible for hemophilia A or B to occur through spontaneous gene mutation.
  • The gene that causes hemophilia C can be passed on to children by either parent. Hemophilia C can occur in both boys and girls.

Symptoms:

A person with hemophilia can bleed inside or outside of the body. People with hemophilia do not bleed more than people without hemophilia, they just bleed longer. The most common types of bleeds are into the joints and muscles.

Other symptoms include:

  • Nose bleeds
  • Prolonged bleeding from minor cuts
  • Bleeding that stops and resumes after stopping for only a short time
  • Blood in the urine
  • Blood in the stool
  • Large bruises
  • Hematomas
  • Easy bruising (unexplained bruising)
  • Excessive bleeding with dental work or tooth extraction
  • Heavy periods and/or periods lasting more than 7 days

Diagnosis:

For people with a family history of hemophilia, it’s possible to test the fetus during pregnancy to determine if it is affected by the disease. However, such testing poses some risk to the fetus. Discuss the benefits and risks of testing with your doctor.

Analysis of a blood sample from either a child or an adult can show a deficiency of a clotting factor. Sometimes mild hemophilia isn’t diagnosed until after a person has undergone surgery and excessive bleeding results.Treatment:

While there’s no cure for hemophilia, most people with the disease can lead fairly normal lives. 

Hemophilia treatment varies depending on the severity of the condition: 

  • Mild hemophilia A. Treatment may involve slow injection of the hormone desmopressin (DDAVP) into a vein to stimulate a release of more clotting factor to stop bleeding. Occasionally, desmopressin is given as a nasal medication.
  • Moderate to severe hemophilia A or hemophilia B. Bleeding may stop only after an infusion of clotting factor derived from donated human blood or from genetically engineered products called recombinant clotting factors. Repeated infusions may be needed if internal bleeding is serious.
  • Hemophilia C. The clotting factor missing in this type of hemophilia (factor XI) is available only in Europe. In the U.S., plasma infusions are needed to stop bleeding episodes.

Regular preventive infusions of a clotting factor may help prevent bleeding. This approach may reduce time spent in the hospital and away from home, work or school and limit side effects such as damage to joints. Your doctor or child’s doctor can train you to perform infusions of desmopressin or the clotting factor at home, work or school. 

Another class of drugs called antifibrinolytics is sometimes prescribed along with clotting factor replacement therapy. These medications help prevent clots from breaking down. 

If internal bleeding has damaged joints, physical therapy can help them function better. Therapy can preserve their mobility and help prevent frozen or badly deformed joints. In cases where repeated bouts of internal bleeding has damaged or destroyed joints, an artificial joint may be needed. 

For Minor Cuts:

If you or your child experiences a small cut or scrape, using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.Complications:

Complications may occur from the condition or from the treatment for the condition: 

  • Deep internal bleeding. Hemophilia may cause deep muscle bleeding that leads to swelling of a limb. The swelling may press on nerves and lead to numbness or pain. This may result in a reluctance to use that limb.
  • Damage to joints. Internal bleeding may also put pressure on and damage joints. Pain sometimes may be severe, and you may be reluctant to use a limb or move a joint. If bleeding occurs frequently and you don’t receive adequate treatment, the irritation may lead to destruction of the joint or the development of arthritis.
  • Infection. People with hemophilia are more likely to receive blood transfusions and are at greater risk of receiving contaminated blood products. Until the mid-1980s, it was more likely for people with hemophilia to become infected with the human immunodeficiency virus (HIV) or with hepatitis through contaminated blood products. Since then, blood products are much safer because of steps taken to screen the supply of donated blood. The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products called recombinant factors, which are free of infection. However, it’s still possible for people who rely on blood products to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.
  • Adverse reaction to clotting factor treatment. In some people with hemophilia, the immune system sees these clotting factor treatments as foreign. When this happens, the immune system develops proteins that inactivate the clotting factors used to treat bleeding. Researchers are investigating treatments to dampen the immune system’s response and allow continuing treatment with clotting factors.

Resources and References:

Hemophilia Federation of America

Background:

Infertility is defined as the inability for a couple to become pregnant after a year of regular, unprotected intercourse. The male partner, the female partner, or both, may have a fertility problem. In women over 35 years old, an evaluation and possible treatment is needed after 6 months of unprotected intercourse.

A person who is infertile has a reduced ability to have a child. It usually doesn’t mean a person is sterile — that is, physically unable ever to have a child. Up to 15% of all couples are infertile, but only 1% to 2% are sterile. Half of couples who seek help can eventually bear a child, either on their own or with medical assistance.

Men and women are equally likely to have a fertility problem. In about one in five infertile couples, both partners contribute to fertility problems, and in about 15% of couples, no cause is found after all tests have been done. This is called “unexplained infertility.”

For many couples, infertility is a crisis. Fertility problems often come with feelings of guilt or inadequacy. But a diagnosis of infertility is not necessarily a verdict of sterility.Causes:

One-third of cases are due to infertility involving only the male and one-third of cases of infertility are involving only the female. The remaining cases of infertility involve both the mail and female or the cause is unknown.

Causes of infertility in women may include:

  • Ovulation disorders
    • Polycystic ovary syndrome (PCOS)
    • Excessive exercise
    • Eating disorders
    • Injury
    • Tumor
  • Uterine or cervical abnormalities
    • Uterine or cervical abnormalities
    • Problem with opening of the cervix
    • Abnormalities in shape or cavity of the uterus
    • Benign tumors in the uterine wall (Uterine fibroids)
  • Fallopian tube damage or blockage
    • Pelvic inflammatory disease
    • Sexually transmitted infection
  • Endometriosis
  • Primary ovarian insufficiency
    • Early menopause (<40 years of age)
  • Pelvic adhesions
    • Scar tissue
  • Thyroid problems
    • Cancer and its treatment
    • Certain medications

Causes of infertility in women may include:

  • Abnormal sperm production or function
    • Undescended testicles
    • Genetic defects
    • Enlarged veins in the testes (varicocele)
  • Problems with the delivery of sperm
    • Premature ejaculation
    • Cystic fibrosis
    • Testicular blockage
    • Organ injury
  • Overexposure to certain environmental factors
    • Pesticides
    • Radiation
    • Anabolic steroids
    • Cystic fibrosis
    • Marijuana
    • Frequent heat exposure (saunas or hot tubs)
    • Smoking
  • Damage from cancer or cancer treatment
    • Radiation
    • Chemotherapy

Symptoms:

Most couples achieve pregnancy within the first six months of trying. Overall, after 12 months of unprotected intercourse, approximately 90 percent of couples will become pregnant. The majority of the remaining couples will eventually conceive, with or without treatment.

The main sign of infertility is the inability for a couple to get pregnant. There may be no other obvious symptoms.

In some cases, an infertile woman may have abnormal menstrual periods. An infertile man may have some signs of hormonal problems, such as changes in hair growth or sexual function.

When to see a doctor

In general, don’t be too concerned about infertility unless you and your partner have been trying regularly to conceive for at least one year.

Talk with your doctor earlier, however, if you’re a woman and: 

  • You’re age 34 or older and have been trying to conceive for six months or longer
  • You menstruate irregularly or not at all
  • Your periods are very painful
  • You have been diagnosed with endometriosis or pelvic inflammatory disease (PID)
  • You’ve had more than one miscarriage

If you’re a man, talk with your doctor if you have: 

  • Low sperm count
  • A history of testicular, prostate or sexual problems

Diagnosis:

Both partners will undergo physical examination to determine if there are any physical disorders contributing infertility.

Gender specific testing

For a man to be fertile, the testicles must produce enough healthy sperm, and the sperm must be ejaculated effectively into the woman’s vagina and be able to travel to the egg. Specific tests for male infertility attempt to determine whether any of these processes are impaired: 

  • Semen analysis
  • Hormone testing
  • Transrectal and scrotal ultrasound
  • Genetic testing

For a woman to be fertile, her ovaries must release healthy eggs. Her reproductive tract must allow an egg to pass into her fallopian tubes and allow the sperm to join the egg for fertilization. The fertilized egg must travel on to the uterus and implant in the lining. Specific tests for female infertility attempt to determine whether any of these processes are impaired.

  • Ovulation testing
  • Hysterosalpingography
  • Ovarian reserve testing
  • Other hormone testing
  • Imaging tests

Treatment:

Treatment depends on the cause of infertility. It may involve:

  • Education and counseling
  • Fertility treatments such as intrauterine insemination (IUI) and in vitro fertilization (IVF)
  • Medicines to treat infections and clotting disorders
  • Medicines that help the woman grow and release eggs from the ovaries 

It is important to recognize and discuss the emotional impact that infertility has on you and your partner, and to seek medical advice from your health care provider.

You can increase your chances of becoming pregnant each month by having sex at least every 3 days before and during ovulation. It is especially important to do so before ovulation occurs. Sperm can live inside a woman’s body for at least 3 days. However, a woman’s egg can only be fertilized by the sperm for a few hours after it is released. 

Ovulation occurs about 2 weeks before the next menstrual cycle (period) starts. If a woman gets her period every 28 days, the couple should have sex at least every 3 days between the 10th and 18th day after the period starts.Complications:

Common medicines used to treat infertility include clomiphene citrate, human menopausal gonadotropin (hMG), follicle-stimulating hormone (FSH), or gonadotropin-releasing hormone (Gn-RH) analog. Treatment can cause side effects but it is important that a person never changes their dosage or stops taking their medication without talking to their doctor or pharmacist. 

Common side effects for the different medication options for infertility include: 

  • Human menopausal gonadotropin (hMG) — Injection site pain, lower-abdomen tenderness, fluid retention, headache, emotional irritability, breast discomfort and fatigue
  • Follicle-stimulating hormone (FSH)— Injection site pain, abdominal pain, weight gain, breast discomfort, emotional irritability, nausea, vomiting and diarrhea
  • Gonadotropin-releasing hormone(Gn-RH) — An irregular menstrual period (or no menstrual period at all); hot flashes; vaginal burning, itching or dryness; decreased sexual interest and increased acne or oily skin or hair.

Resources and References:

WebMD
PubMed Health
Mayo Clinic

Background:

Multiple sclerosis (MS) is a disease in which the immune system, which normally protects your body, instead attacks the covering (myelin sheath) surrounding the nerves in your brain and spinal cord. These nerves send information from your brain and spinal cord to other nerves in your body, and myelin helps make this transmission efficient.

People with MS can typically experience one of four disease courses, each of which might be mild, moderate, or severe.

  • Relapsing-Remitting MS. People with this type of MS experience clearly defined attacks of worsening neurologic function. These attacks – which are also called relapses, flare-ups, or exacerbations – are followed by partial or complete recovery periods, during which no disease progression occurs. Approximately 85% of people are initially diagnosed with relapsing-remitting MS.
  • Primary-Progressive MS. This disease course is characterized by slowly worsening neurologic function from the beginning – with no distinct relapses or remissions. The rate of progression may vary over time, with occasional plateaus and temporary minor improvements. Approximately 10% of people are diagnosed with primary-progressive MS.
  • Secondary-Progressive MS. Following an initial period of relapsing-remitting MS, many people develop a secondary-progressive disease course in which the disease worsens more steadily, with or without occasional flare-ups, minor recoveries (remissions), or plateaus. Before the disease-modifying medications became available, approximately 50% of people with relapsing-remitting MS developed this form of the disease within 10 years.
  • Progressive-Relapsing MS. In this relatively rare course of MS (5%), people experience steadily worsening disease from the beginning, but with clear attacks of worsening neurologic function along the way. They may or may not experience some recovery following these relapses, but the disease continues to progress without remissions.

Causes:

MS is caused by damage to the myelin sheath, the protective covering that surrounds nerve cells. When this nerve covering is damaged, nerve signals slow down or stop. The nerve damage is caused by inflammation. Inflammation occurs when the body’s own immune cells attack the nervous system. This can occur along any area of the brain, optic nerve, and spinal cord.

It is unknown what exactly causes this to happen. The most common thought is that virus or gene defects, or both, are to blame. Environmentally factors may play a role also. You are slightly more likely to get this condition if you have a family history of MS or live in a part of the world where MS is more common.

Some studies have suggested that many viruses such as Epstein-Barr (mononucleosis), varicella zoster, and the hepatitis vaccine may be the cause of MS. To date, however, this belief has not been proven.Symptoms:

In MS, damage to the myelin in the central nervous system, and to the nerve fibers themselves, interferes with the transmission of nerve signals between the brain and spinal cord and other parts of the body. This disruption of nerve signals produces the primary symptoms of MS, which vary depending on where the damage has occurred.

Symptoms:

Most common symptoms include:

  • Fatigue
  • Numbness
  • Walking, balance & coordination problems
  • Bladder dysfunction
  • Bowel dysfunction
  • Vision problems
  • Dizziness and Vertigo
  • Sexual dysfunction
  • Emotional changes
  • Pain
  • Depression
  • Spasticity

Less common symptoms include:

  • Speech disorders
  • Swallowing problems
  • Headache
  • Hearing loss
  • Seizures
  • Tremor
  • Respiration/breathing problems
  • Itching

Diagnosis:

At this time, there are no symptoms, physical findings or laboratory tests that can, by themselves, determine if a person has MS. The doctor uses several strategies to determine if a person meets the long-established criteria for a diagnosis of MS and to rule out other possible causes of whatever symptoms the person is experiencing.

These strategies include:

  • Medical history
  • Neurologic exam
  • Magnetic resonance imaging (MRI)
  • Evoked potentials (EP)
  • Spinal fluid analysis

In order to make a diagnosis of MS, the physician must:

  • Find evidence of damage in at least two separate areas of the central nervous system (CNS), which includes the brain, spinal cord and optic nerves AND
  • Find evidence that the damage occurred at least one month apart AND
  • Rule out all other possible diagnoses

Treatment:

Multiple sclerosis (MS) has no cure. Treatment usually focuses on strategies to treat MS attacks, manage symptoms and reduce the progress of the disease. Some people have such mild symptoms that no treatment is necessary.

Strategies to treat attacks:

  • Corticosteroids. Corticosteroids are mainly used to reduce the inflammation that spikes during a relapse. Examples include oral prednisone and intravenous methylprednisolone (Solu-Medrol). Side effects may include mood swings, seizures, weight gain and an increased risk of infections.
  • Plasma exchange (plasmapheresis). This procedure removes some blood from your body and mechanically separates your blood cells from your plasma, the liquid part of your blood. Doctors then mix your blood cells with a replacement solution and return the blood to your body.

Complications:

  • Depression
  • Difficulty swallowing
  • Less and less ability to care for self
  • Need to indwelling catheter
  • Osteoporosis or thinning of the bones
  • Pressure sores
  • Urinary tract infections

Resources and References:

Mayo Clinic
PubMed Health
National MS Society
WebMD

Background:

Osteoarthritis is a joint disease that mostly affects cartilage. Cartilage is the slippery tissue that covers the ends of bones in a joint. Healthy cartilage allows bones to glide over each other. It also helps absorb shock of movement. In osteoarthritis, the top layer of cartilage breaks down and wears away. This allows bones under the cartilage to rub together. The rubbing causes pain, swelling, and loss of motion of the joint. Over time, the joint may lose its normal shape. Also, bone spurs may grow on the edges of the joint. Bits of bone or cartilage can break off and float inside the joint space, which causes more pain and damage.

People with osteoarthritis often have joint pain and reduced motion. Unlike some other forms of arthritis, osteoarthritis affects only joints and not internal organs. Rheumatoid arthritis — the second most common form of arthritis — affects other parts of the body besides the joints. Osteoarthritis is the most common type of arthritis.Causes:

Osteoarthritis usually happens gradually over time. Some risk factors that might lead to it include:

  • Being overweight
  • Getting older
  • Joint injury
  • Joints that are not properly formed
  • A genetic defect in joint cartilage
  • Stresses on the joints from certain jobs and playing sports.

Symptoms:

Osteoarthritis symptoms often develop slowly and worsen over time. Signs and symptoms of osteoarthritis include:

  • Pain. Your joint may hurt during or after movement.
  • Tenderness. Your joint may feel tender when you apply light pressure to it.
  • Stiffness. Joint stiffness may be most noticeable when you wake up in the morning or after a period of inactivity.
  • Loss of flexibility. You may not be able to move your joint through its full range of motion.
  • Grating sensation. You may hear or feel a grating sensation when you use the joint.
  • Bone spurs. These extra bits of bone, which feel like hard lumps, may form around the affected joint.

When to see a doctor

If you have swelling or stiffness in your joints that lasts for more than a few weeks, make an appointment with your doctor.Diagnosis:

During the physical exam, your doctor will closely examine your affected joint, checking for tenderness, swelling or redness. He or she will also check the joint’s range of motion. Your doctor may also recommend imaging and lab tests.

Imaging tests

  • X-rays. Cartilage doesn’t show up on X-ray images, but the loss of cartilage is revealed by a narrowing of the space between the bones in your joint. An X-ray may also show bone spurs around a joint. Many people have X-ray evidence of osteoarthritis before they experience any symptoms.
  • Magnetic resonance imaging (MRI). MRI uses radio waves and a strong magnetic field to produce detailed images of bone and soft tissues, including bone cartilage. This can be helpful in determining what exactly is causing your pain.

Lab tests

  • Blood tests. Blood tests may help rule out other causes of joint pain, such as rheumatoid arthritis.
  • Joint fluid analysis. Your doctor may use a needle to draw fluid out of the affected joint. Examining and testing the fluid from your joint can determine if there’s inflammation and if your pain is caused by gout or an infection. 

Treatment:

There’s no known cure for osteoarthritis, but treatments can help to reduce pain and maintain joint movement.

Medications

  • Acetaminophen. Acetaminophen (Tylenol, others) can relieve pain, but doesn’t reduce inflammation. It has been shown to be effective for people with osteoarthritis who have mild to moderate pain. Taking more than the recommended dosage of acetaminophen can cause liver damage.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs). NSAIDs reduce inflammation and relieve pain. Over-the-counter NSAIDs include ibuprofen (Advil, Motrin, others) and naproxen (Aleve, others). Stronger NSAIDs are available by prescription. NSAIDs can cause stomach upset, ringing in your ears, cardiovascular problems, bleeding problems, and liver and kidney damage. Older people are at highest risk of complications.
  • Narcotics. These types of prescription medication typically contain ingredients similar to codeine and may provide relief from more severe osteoarthritis pain. These stronger medications carry a risk of dependence, though that risk is thought to be small in people who have severe pain. Side effects may include nausea, constipation and sleepiness.

Therapy

  • Work with a physical therapist. Ask your doctor for a referral to a physical therapist. The physical therapist can work with you to create an individualized exercise regimen that will strengthen the muscles around your joint, increase the range of motion in your joint and reduce your pain.
  • Find ways to avoid stressing your joints. Find ways to go about your day without stressing your joints. An occupational therapist can help you discover ways to do everyday tasks or do your job without putting extra stress on your already painful joint. For instance, a toothbrush with a large grip could make brushing your teeth easier if you have finger osteoarthritis. A bench in your shower could help relieve the pain of standing if you have knee osteoarthritis.
  • Try braces or shoe inserts. Consider trying splints, braces, shoe inserts or other medical devices that can help reduce your pain. These devices can immobilize or support your joint to help you keep pressure off it.
  • Take a chronic pain class. The Arthritis Foundation and some medical centers have classes for people with osteoarthritis or chronic pain. Ask your doctor about classes in your area or check with the Arthritis Foundation. These classes teach skills that help you manage your osteoarthritis pain. And you’ll meet other people with osteoarthritis and learn their tips and tricks for reducing and coping with joint pain.

Surgical and other procedures

  • Cortisone shots. Injections of corticosteroid medications may relieve pain in your joint. During this procedure your doctor numbs the area around your joint, and then inserts a needle into the space within your joint and injects medication. The number of cortisone shots you can receive each year is limited, because the medication can cause joint damage.
  • Lubrication injections. Injections of hyaluronic acid derivatives (Hyalgan, Synvisc) may offer pain relief by providing some cushioning in your knee. These treatments are made of rooster combs and are similar to a component normally found in your joint fluid.
  • Realigning bones. During a surgical procedure called an osteotomy, the surgeon cuts across the bone either above or below the knee to realign the leg. Osteotomy can reduce knee pain by shifting your body weight away from the worn-out part of your knee.
  • Joint replacement. In joint replacement surgery (arthroplasty), your surgeon removes your damaged joint surfaces and replaces them with plastic and metal devices called prostheses. The hip and knee joints are the most commonly replaced joints. Surgical risks include infections and blood clots. Artificial joints can wear out or come loose and may need to eventually be replaced.

Complications:

Every person with OA is different. Pain and stiffness may prevent one person from performing simple daily activities, while others are able to maintain an active lifestyle that includes sports and other activities.

Your movement may become very limited over time. Doing everyday activities, such as personal hygiene, household chores, or cooking may become a challenge. Treatment usually improves function.

Complications Include:

  • Reactions to drugs used for treatment
  • Decreased ability to perform everyday activities, such as personal hygiene, household chores, or cooking
  • Decreased ability to walk

Resources and References:

PubMed Health
Mayo Clinic
Medicine Net

Overview

Bronchiectasis is a chronic condition of the lungs which typically occurs following years of respiratory complications or other conditions affecting the lungs. Bronchi act as a passageway for the air you breathe in to reach the lungs. Various lung conditions over time can cause inflammation, increased mucus secretions, and infections that cause permanent widening of the bronchi and damage to the lung tissue. So much damage can occur that the lungs aren’t able to get rid of the increased mucus, and this in turn increases the risk of lung infections. As a result, bronchiectasis is essentially a cycle of lung damage, inflammation, and infections.

People at higher risk of developing bronchiectasis include those with compromised immune systems, lung infections such as pneumonia, chronic obstructive pulmonary disease (COPD), cystic fibrosis (CF) and other lung diseases. Bronchiectasis is diagnosed using various lung function tests and sampling/analyzing mucus. It can also be diagnosed with a CT scan or chest X-ray.

Related Symptoms and Health Concerns

Symptoms of bronchiectasis can be non-specific and include:

  • Chronic productive cough
  • Frequent lower respiratory tract infections
  • Fatigue
  • Shortness of breath or wheezing
  • Weight loss
  • Chest pain/tightness

Treatment

Bronchiectasis cannot be cured, but it can be managed. Treatment is highly variable between patients because the disease looks different in each person. Management may include various components, such as:

  • Clearing the airways of mucus. Pulmonary rehabilitation is one of the most common ways this is accomplished, but other methods may be used. Nebulized hypertonic saline, mannitol, or mucolytic agents are also commonly used to help break up the mucus and make it easier to clear out.  
  • Oral antibiotics, such as azithromycin.
  • Inhaled steroids and rescue inhalers.
  • Inhaled antibiotics, such as Cayston (nebulized aztreonam), Arikayce (nebulized amikacin), or Tobi (nebulized tobramycin). These drugs are available in specialty pharmacies.

Treatment Goals

The goals of treating bronchiectasis include:

  • Improving mucus clearance with lung exercises
  • Suppress and prevent bacterial colonization
  • Reduce airway inflammation
  • Improve physical function and quality of life
  • Maintaining optimal therapy adherence
  • Preventing, minimizing, and managing side effects of therapy

Strategies to Achieve Treatment Goals

  • Adherence to therapy
  • Monitoring and follow-up with physician
  • Reducing the risk of additional lung damage through smoking cessation
  • Immunization against flu and pneumonia
  • Appropriate management of other underlying diseases such as COPD, high blood pressure, anxiety, etc.

Additional Resources

Sources

  1. Imam J, Duarte A. Non-CF bronchiectasis: Orphan disease no longer. Respiratory Medicine. 2020(166):3-12. doi: 10.1016/j.rmed.2020.105940.
  2. Chalmers JD, Aliberti S, Blasi F. Management of bronchiectasis in adults. Eur Respir J. 2015(45):1446-1462. doi: 10.1183/09031936.00119114.

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Disease State Overview

Cystic Fibrosis (CF) is a rare, genetic disorder that is passed from parents to children. It is caused by inheriting two defective (or abnormal) copies of the gene cystic fibrosis transmembrane conductance regulator (CFTR) protein. This mutation makes mucus and other secretions much thicker and difficult to clear. As a result, there is a build-up of mucus and thick fluids, which creates blockage and obstructs vital organs. CF is a multi-systemic disease that affects the respiratory tract, pancreas, digestive system, and liver. Doctors can screen for and diagnose CF at birth with a positive newborn screening test. Diagnosis is further confirmed with a pilocarpine-induced sweat test and genetic testing. More than 30,000 people in the U.S. are living with cystic fibrosis and around 1,000 people are diagnosed with CF each year. 

Related Symptoms and Health Concerns

People experience different CF symptoms because CF affects multiple organs:

  • Lungs: chronic inflammation and obstruction, lung infections, and trouble breathing. Common symptoms include coughing up thick mucus, wheezing, difficulty breathing, frequent lung infections, and airway inflammation.
  • Pancreas: low enzyme and vitamin levels needed for absorbing nutrients. Damage can lead to CF-related diabetes.
  • Liver: blocked bile ducts, which can cause damage to the liver.
  • GI tract: constipation or obstruction in the intestines. Symptoms include abdominal pain, constipation, malnutrition, or inadequate weight gain.
  • Miscellaneous: fertility problems, urinary incontinence, and increased risk of GI-related cancers.

Treatment

CF is treatable, but it does not have a cure. CF is more manageable with newer drugs coming to market.

  • Air clearance: Loosens mucus build up in the lungs.
  • Inhaled medications: Thins mucus and opens airways.
  • Oral medications:
    • Pancreatic enzymes to increase absorption of necessary nutrients.
    • CFTR modulators that target and improve function of defective protein.
    • Anti-inflammatory to reduce inflammation.
    • Antibiotics to help treat or prevent infection and inflammation.
    • Nutritional supplements with high dose fat-soluble vitamins.

Treatment Goals

The primary goal of cystic fibrosis treatment is to reduce symptom severity, slow disease progression, and increase survival by…

  • Maintaining lung function
  • Preventing and treating lung infections
  • Loosening and removing inflammation-causing mucus from the lungs
  • Preventing and treating of blockages in the intestines
  • Promoting adequate nutrition to maintain growth and appropriate BMI
  • Encouraging adequate hydration
  • Improving or maintaining quality of life
  • Increasing survival and life expectancy
  • Maintaining optimal therapy adherence
  • Preventing, minimizing, and managing side effects

Strategies to Achieve Treatment Goals

  • Adhere to drug therapy
  • Improve diet and nutrition to maintain growth and appropriate BMI
  • Prevent, minimize, and manage side effects
  • Prevent and treat lung infections
  • Minimize disruption to daily life due to CF symptoms and treatment burden

Additional Resources

Sources

  1. Lahiri, Thomas, et al. “Clinical Practice Guidelines From the Cystic Fibrosis Foundation for Preschoolers With Cystic Fibrosis.” American Academy of Pediatrics, American Academy of Pediatrics, 23 Mar. 2016, pediatrics.aappublications.org/content/early/2016/03/22/peds.2015-1784.
  2. Mogayzel, Peter J, et al. “Cystic Fibrosis Pulmonary Guidelines Chronic Medications for Maintenance of Lung Health.” American Journal of Respiratory and Critical Care Medicine, 3 Jan. 2013, www.atsjournals.org/doi/full/10.1164/rccm.201207-1160OE.

Download Condition Resource

Disease State Overview

Nontuberculous Mycobacteria (NTM) are different types of bacteria found everywhere in the environment, including in soil and tap water, that can cause or worsen respiratory disease. The most common species of NTM are Mycobacterium avium complex, also known as MAC. Because NTM exist everywhere in our environment, healthy people may inhale NTM but not actually get infected. It can, however, affect those with immunodeficiencies and other health conditions. People at higher risk of getting NTM include those with chronic lung diseases, such as cystic fibrosis (CF), bronchiectasis, and chronic obstructive pulmonary disease (COPD), along with individuals above the age of 65. People with deficient immune systems can also be affected due to not being able to fight off the bacteria. NTM is not contagious. NTM is diagnosed by performing multiple sputum tests to determine if NTM are present and, if present, what strain. Other tests that may be performed include chest X-rays or CT scans. Additionally, symptoms are assessed to determine the severity of the disease. Onset of an NTM infection is often very slow and incubation periods can last from months to years, making diagnosis and tracing the source of the infection almost impossible in many cases.

Related Symptoms and Health Concerns

The bacteria make their way to the lung tissue and can cause serious lung infection. Symptoms of NTM may include…

  • Cough: with or without sputum. NTM may cause you to cough up blood; if this occurs, contact your doctor or seek emergency help immediately.
  • Fever or night sweats
  • Loss of appetite and weight loss
  • Fatigue/weakness
  • Shortness of breath
  • Wheezing
  • Chest pain with breathing

Treatment

Treatment for NTM depends on the type of bacteria that is causing the disease as well as the severity of the disease. Treatments consist of three or more antibiotics (oral, intramuscular, IV, or inhaled) to fight off the specific bacteria. The purpose of multiple antibiotics together is that each class works slightly differently. Selecting a regimen with drugs from different classes helps them to essentially work as a team to attack the bacteria. Antibiotic therapy may last up to two years depending on your response to the regimen. Specialty medications may be used to treat NTM, such as Arikayce which is inhaled amikacin.

Treatment Goals

The primary goal of NTM therapy is to convert positive sputum cultures to negative and maintain negative cultures for at least 12 months before discontinuing therapy. Other goals of therapy include…

  • Maintaining lung function
  • Preventing and treating secondary lung infections
  • Improving or maintaining quality of life
  • Maintaining optimal therapy adherence
  • Preventing, minimizing, and managing side effects of therapy

Strategies to Achieve Treatment Goals

  • Adherence to therapy
  • Monitoring and follow-up with physician
  • Vision and hearing tests
  • Stay up to date on vaccinations
  • Avoid smoking or other lung irritants
  • Airway clearance exercises
  • Reduce NTM exposure by wearing a mask or increasing temperature of hot water heater to get rid of NTM in tap water

Additional Resources

Sources

  1. Daley, Charles, et al. Treatment of Nontuberculous Mycobacterial Pulmonary Disease: An Official ATS/ERS/ESCMID/IDSA Clinical Practice Guideline. Infectious Disease Society of America. 2020;71:1-36.
  2. Ratnatunga CN, et al. The Rise of Non-Tuberculosis Mycobacterial Lung Disease. Front. Immunol. 2020;11:303. doi: 10.3389/fimmu.2020.00303.

Download Condition Resource

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