ABOUT FABRY DISEASE
Fabry disease worsens over time and can become life-threatening. It is important to talk to your doctor and understand how Fabry disease may affect your body.
What is Fabry disease?
Fabry disease is an inherited condition caused by a genetic variation, a change in one of your genes. Because of this change, your body is unable to make enough of an enzyme called alpha-galactosidase A, or alpha-GAL. Enzymes are proteins that break down substances in your body. When enzymes don’t work properly, substances build up and can cause diseases such as Fabry disease.
The role of alpha-GAL.
alpha-GAL breaks down and clears GL-3 buildup
In people who don't have Fabry disease, lysosomes in the cells have alpha-GAL that can break down and clear GL-3.
GL-3 buildup with limited or no alpha-GAL
In people with Fabry disease, GL-3 builds up in lysosomes, so cells don't function as usual.
A lysosome is the digestive system of the cell, where fats and other substances are broken down.
Fabry disease and families.
Fabry disease affects people of all ages and ethnic backgrounds. It is inherited, which means that parents with Fabry disease can pass it down to their children.
Fabry disease runs in families, and when one person is diagnosed, an average of 5 additional relatives may also be affected.
If someone in your family has Fabry disease, it’s important to discuss testing options with your healthcare providers.
IMPACT OF DISEASE PROGRESSION
Some of the ways Fabry disease can affect you:
In people with Fabry disease, GL-3 starts to build up before birth and continues building up throughout life. Although everyone has GL-3, too much of it can cause damage to the body. Fabry disease affects women, men, and children differently. Even within the same family, people with Fabry disease may experience different symptoms including:
Impaired kidney function
- Protein in urine
- Kidney failure
- Stomach cramping
Strokes and ministrokes
- Hearing loss or ringing in the ears
- Whorling pattern in the eyes (corneal whorling)
- Headaches, lightheadedness, vertigo
- Breathing problems
- Chest pain
- Heart disease
- Enlarged heart
- Irregular heartbeat
Skin and nerve conditions
- Reddish or purple spots on skin
- Nerve pain in hands or feet
- Reduced ability to sweat
- Sensitivity to hot and cold temperatures
Long-term effects of Fabry disease.
As a result of GL-3 buildup, people with Fabry disease are at risk for problems that may become life threatening, such as kidney disease, heart problems, and early stroke. Some symptoms of Fabry disease may become worse over time without your knowledge.
UNDIAGNOSED AND UNMANAGED, FABRY DISEASE CAN REDUCE LIFE EXPECTANCY IN PATIENTS WITH CLASSIC DISEASE BY APPROXIMATELY:
Put your health first! It’s important to track your symptoms and see your doctor regularly.
IMPORTANCE OF MONITORING
Monitoring your health.
Managing and monitoring Fabry disease are important for maintaining your health. There are some symptoms that you can see and feel, which you should let your doctor know about. Some of these symptoms may include:
- Pain in the hands, feet, or stomach
- Inability to sweat
- Temperature sensitivities
- Reddish or purple spots on skin
- Heart palpitations
- Chest pain
Other symptoms can progress “silently” even if you don’t feel sick. Medical assessments are needed to monitor these symptoms, especially since they can affect the kidney, heart, and brain.
TESTS TO MONITOR FABRY DISEASE
Your doctor can order certain diagnostic tests and labs to measure the function of your kidneys, heart, and brain to understand the effects of Fabry disease on your body. Tests can be performed as often as every 6 months or as infrequently as every 3 years, depending on your age, clinical presentation, and/or other factors. More frequent testing may be needed if you experience new or more severe symptoms, or when you start or change your treatment plan.
HERE ARE SOME COMMON TESTS USED TO MONITOR FABRY DISEASE:
Glomerular filtration rate (GFR)
Measures level of kidney function and determines stage of kidney disease.
Tests for albuminuria and proteinuria
Measures excess protein in the urine. These tests typically indicate whether the kidneys are functioning normally.
Cranial or cardiac magnetic resonance imaging (MRI)
Measures tissue damage and detects a variety of conditions in the brain or heart.
Measures electrical activity in the heart.
Measures thickness and assesses the function and structure of the heart.
We’re here to help! Ask your Patient Education Liaison about the schedule of assessments for Fabry disease. They can give you the tips and tools you need to monitor your symptoms.
Guiding treatment decisions.
Guidelines are a tool for physicians to consider when making treatment recommendations for their patients. People who have been diagnosed should receive regular check-ups, even if they are not experiencing symptoms or not currently on treatment. If you have questions about the guidelines, talk to your doctor.
The following guidelines have been developed by an international panel of Fabry experts for the treatment of Fabry disease. Your doctor will make specific testing and treatment decisions based upon your individual health considerations.
Enzyme replacement therapy (ERT) should be considered in symptomatic males and females at time of diagnosis.
- In published guidelines, Fabry disease experts recommend that ERT should be considered in symptomatic males and females at any age.*
ERT should be considered in asymptomatic males and females:
- Males with “classic” gene variants starting at ages 8 – 10.
- Males with “non-classic” gene variants and asymptomatic females:
- Should be monitored for the development of symptoms that warrant treatment with ERT: Problems in the kidneys, heart, or brain, as well as pain, gastrointestinal distress, difficulty sweating or exercise intolerance.
*Fabrazyme has not been studied in patients under the age of 2.
If you or any of your family members experience any of the above symptoms, talk to your doctor about your treatment goals.
IMPORTANT SAFETY INFORMATION
Fabrazyme can cause serious side effects, including:
Severe Allergic (anaphylaxis) and Hypersensitivity Reactions
Approximately 1% of patients who have received Fabrazyme either during a clinical study or after Fabrazyme was approved have experienced anaphylactic (allergic) or severe hypersensitivity reactions during their infusion. Life-threatening severe anaphylactic (allergic) or severe hypersensitivity reactions have been seen in patients during Fabrazyme infusions.
- These reactions included: swelling of the face, mouth and throat, narrowing of breathing airways, low blood pressure, hives, difficulty swallowing, rash, trouble breathing, flushing, chest discomfort, itching and nasal congestion.
- People who have experienced these reactions have required treatment including heart/lung resuscitation, oxygen, fluids given through a vein, hospitalization, and treatment with inhaled drugs called beta-adrenergic agonists to help open the breathing airways, antihistamines, epinephrine (also known as adrenaline), and a medication given through the vein called a corticosteroid (or steroid) which helps to decrease the body’s allergic reaction by decreasing inflammation.
- If you experience a severe allergic or anaphylactic reaction, your healthcare professional will immediately stop the infusion of Fabrazyme and provide you the necessary emergency medical treatment. Because of the possibility that severe hypersensitivity reactions may occur, appropriate medical support should be available during your Fabrazyme infusion.
In the clinical studies, some patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies are a specific kind of antibody that can sometimes be produced by the body’s immune system during an allergic reaction.
- Higher amounts of hypersensitivity reactions were seen in adult patients whose immune systems repeatedly made anti-Fabrazyme antibodies and in patients who had high antibody titers (units used to measure how much anti-drug antibody your immune system is making) compared to adult patients with negative antibody titers.
- Your doctor should consider testing for IgE antibodies if you experience suspected allergic reactions. Providing Fabrazyme to patients who have experienced severe or serious allergic reactions to Fabrazyme should only be done after carefully considering the risks and benefits of continuing the treatment, and only under the direct supervision of a qualified healthcare professional and with appropriate medical support readily available.
In clinical studies with Fabrazyme, 59% of patients experienced infusion-associated reactions during Fabrazyme administration, some of which were severe. Infusion-associated reactions are defined as adverse reactions occurring on the same day as your infusion. During the clinical trials, infusion-associated reactions occurred more frequently in patients who were positive for anti-Fabrazyme antibodies than in patients who did not have anti-Fabrazyme antibodies.
- For patients who have had reactions to their infusions, it is recommended that they be given anti-fever and antihistamine medications right before their next infusions. Infusion-associated reactions have happened in some patients even after taking these medications before their infusions.
- If an infusion-associated reaction occurs, slowing the infusion rate, stopping the infusion for a short time and/or giving more anti-fever and antihistamine medications and or steroids may improve the symptoms.
- If severe infusion-associated reactions happen, your healthcare professional should consider stopping the Fabrazyme infusion right away and should provide medical care for your condition. Severe reactions are generally managed by giving antihistamine medications, corticosteroids, fluids through the vein, and/or oxygen when needed. Because severe infusion-associated reactions may happen, medical treatment should be readily available during your Fabrazyme infusion.
- People with advanced Fabry disease may have heart problems which could put them at a higher risk for severe complications from infusion-associated reactions. These patients should be watched closely during their infusion if the decision is made to give them Fabrazyme.
Common and Other Possible Side Effects: Common side effects reported in 20% or more of Fabrazyme treated patients in clinical studies compared to placebo were upper respiratory tract infection, chills, fever, headache, cough, burning and/or tingling sensation, fatigue, swelling in the legs, dizziness and rash.
Please see full Prescribing Information for Fabrazyme.
Fabrazyme® is used to treat adults and children 2 years of age and older with confirmed Fabry disease.