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Welcome. On this page you’ll find a wide variety of information about conditions, prevention and treatment. Please select a topic from the list below to learn more. We serve many conditions, and if you do not see your condition listed below, please call our main line at 1 (866) 629-6779.

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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.

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.

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.

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

Download your Psoriasis guide here.
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/

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

Download your Growth Hormone Deficiency guide here.
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/

Disease State Overview

Hemophilia is a bleeding disorder that prevents blood from clotting appropriately. The most common forms of hemophilia are inherited through the X-chromosome, so it affects mostly males. Hemophilia occurs in approximately 1 in 5,000 male births in the U.S. and approximately 400 babies are born with hemophilia A each year. 400,000 people worldwide are living with hemophilia and about 30,000 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.

Hemophilia is treated differently depending on what protein is missing in the blood. There are 4 types that are 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 their body’s immune system attacking clotting factors. An underlying cause can be identified in approximately 50% of patients.

In addition to the type of hemophilia, it’s also important to understand what level of factor is available in the blood. The lower the factor level is, the more symptoms will be present. People with hemophilia bleed longer than those without. A person with hemophilia can bleed inside or outside of the body. The most common types of internal 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
  • Easy bruising (unexplained bruising)
  • Excessive bleeding with dental work or tooth extraction
  • Heavy periods and/or periods lasting more than 7 days

Treatment

While there’s no cure for hemophilia, most people with the disease can lead fairly normal lives. Treatment will depend on the type and severity of the conditions. The following products are commonly used in the treatment of hemophilia:

  • Factor replacement therapies: These products are designed to increase factor in the blood and are specific to each type of hemophilia. Depending on the severity of the condition, a person may use these only when needed for a bleed or regularly to prevent bleeding.
  • Non-factor replacement therapies: Products that help prevent bleeding or improve clotting using other non-factor methods.
    • Emicizumab for hemophilia A is a product that mimics the mixing Factor VIII.
    • Desmopressin is used in patients with mild hemophilia to help stop bleeding in patients with hemophilia A.
    • Aminocaproic acid prevents the breakdown of blood clots and is recommended before dental procedures or to treat nose and mouth bleeds after a dose of factor. This is used in patients with both hemophilia A and B.
  • Gene therapy is used to treat the underlying genetic condition that causes hemophilia. The provider at the hemophilia treatment center will help determine eligibility and discuss the risk and benefits of therapy.

For minor wounds, 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.

Treatment Goals

The primary goal of hemophilia treatment is to prevent bleeding, manage bleeding complications once they occur, and improve quality of life by…

  • Raising factor levels
  • Prevent complications
  • Quickly treat active bleeds
  • Injury prevention and self-care measures
  • Appropriate training and education for administration of treatment
  • Maintaining optimal therapy adherence
  • Preventing, minimizing, and managing side effects

Strategies to Achieve Treatment Goals

  • Adhere to drug therapy
  • Monitoring and follow-up with hemophilia treatment center
  • Prevent, minimize, and manage side effects

Resources

Hemophilia Federation of America
Rare Diseases – Acquired Hemophilia

Disease State Overview

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.

  • Clinically isolated syndrome. This refers to the first episode of neurologic symptoms similar to what is seen in MS.  The episode must last at least 24 hours and be caused by inflammation and the loss of the myelin sheath.  It can include one or more symptoms and is followed by a complete or partial recovery.  Someone who has experienced CIS may or may not progress to MS.  Your provider will perform an MRI to determine if there are any brain lesions that would indicate the likelihood of progressing to MS.  If lesions are identified, there is a 60-80% chance of a second event and diagnosis of MS.  If no lesions are identified, the risk of developing MS drops to 20%.
  • 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.
  • 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.
  • Primary-Progressive MS. This disease course is characterized by slowly worsening neurologic function from the beginning –without early relapses or remissions. The rate of progression may vary over time, with occasional plateaus and temporary minor improvements. Approximately 15% of people are diagnosed with primary-progressive MS.

Most common symptoms include:

  • Fatigue
  • Numbness or tingling
  • Walking, balance & coordination problems
  • Bladder dysfunction
  • Bowel dysfunction
  • Vision problems
  • Dizziness and Vertigo
  • Sexual dysfunction
  • Emotional changes
  • Pain and itching
  • Depression
  • Spasticity
  • Weakness
  • Memory problem
  • MS Hug

Less common symptoms include:

  • Speech disorders
  • Loss of taste
  • Swallowing problems
  • Hearing loss
  • Seizures
  • Tremor
  • Respiration/breathing problems

Treatment

Multiple sclerosis (MS) has no cure.  Utilizing a comprehensive approach, strategies can help to modify or slow disease progression, treat relapses, manage symptoms, improve function and safety, and address emotional support needs.  In most cases, the neurologist is the leader of the health care team.  The neurologist will work with the health care team to identify strategies to address the following needs:

  • Modifying the disease course through disease-modifying medications.
  • Treating exacerbations
  • Managing symptoms with medication and/or rehabilitation strategies
  • Improving or maintaining function through rehabilitation
  • Providing emotional support with mental health professionals

Treatment Goals

The primary goals of MS treatment are:

  • Modifying/reducing relapses
  • Delaying progression to disability
  • Treating relapses
  • Managing symptoms
  • Increasing survival and life expectancy
  • Maintaining optimal therapy adherence
  • Preventing, minimizing, and managing symptoms

Strategies to Achieve Treatment Goals

  • Adhere to drug therapy
  • Monitoring and follow-up
  • Prevent and treat relapses
  • Minimize disruption to daily life due to progression of MS
  • Prevent, minimize, and manage side effects

Resources and References:

Download your Multiple Sclerosis guide here.
National MS Society

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.

Disease State Overview

Osteoarthritis is the most common form of arthritis.  It is considered a degenerative joint disease that can affect many of the tissues of the joint.  Osteoarthritis can cause cartilage to degrade, bone shape to change, and inflammation. It can affect any joint, but most commonly impacts the hands, knees, hips, lower back, and neck.

People with osteoarthritis often have joint pain, stiffness, and reduced motion. Unlike some other forms of arthritis, osteoarthritis affects only joints and not internal organs.

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

  • Being overweight
  • Getting older
  • Joint injury
  • Joints that are not properly formed
  • Genetics
  • Weak muscles
  • Gender
  • Stresses on the joints from certain jobs and playing sports.

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.

Treatment

There’s no known cure for osteoarthritis, but treatments can help to reduce pain and maintain joint movement. Several options are available both over the counter and prescribed by a doctor. These include, but are not limited to:

  • Pain relievers
  • Non-steroidal anti-inflammatory drugs
  • Counterirritants (ex. menthol)
  • Corticosteroids
  • Hyaluronic acid injections

In addition to medication, several other options are available that can help manage osteoarthritis symptoms.  These could include exercise, weight loss, physical therapy, assistive devices, and surgery.

Treatment Goals

The primary goal of osteoarthritis management is to reduce symptom severity and slow disease progression by

  • Manage pain and inflammation
  • Reduce stiffness
  • Preserve range of motion and mobility
  • Improving or maintaining quality of life
  • Manage other conditions, such as stress, anxiety and diabetes.
  • Maintaining optimal therapy adherence
  • Preventing, minimizing, and managing side effects

Strategies to Achieve Treatment Goals

  • Adhere to drug therapy
  • Monitoring and follow-up
  • Participate in regular exercise and physical therapy.
  • Eat a healthy diet and maintain a healthy weight.
  • Prevent, minimize, and manage side effects

Resources and References

Arthritis Foundation
National Institute of Arthritis

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

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