Breaking the Myths of Fabry Disease

Because Fabry disease is rare, information about it can be difficult to gather. For many years, very little was known about the disease. As a result, generalizations were sometimes based on the experience of too few patients. In recent years, research on Fabry disease has increased dramatically, resulting in important new information. Unfortunately, inaccurate information continues to circulate. Some of the most common myths:

"Females are carriers, and don't experience symptoms"

Fabry disease was once thought to affect only males. Females were considered to be "carriers" who carried the gene that causes the disease but did not have symptoms. Because Fabry disease is rare, information about it has been slow to accumulate.

Over the past 15 years, research on Fabry disease has increased dramatically. We now know that females with Fabry disease do, in fact, have a wide range of symptoms. These symptoms vary from one female to another, more than they vary among males. They range from mild to severe, may start later in life and may affect some organ systems while sparing others. For more information about why Fabry disease affects females differently from males, please see Fabry disease in Males and Females.

"If a person doesn't experience the early symptoms of Fabry disease, he or she is not at risk for advanced symptoms"

Fabry disease is a progressive, potentially life-threatening disorder. Both males and females with Fabry disease may be relatively symptom-free for many years, but the enzyme deficiency is still causing build-up of GL-3, and these patients are still at risk for advanced symptoms such as kidney disease, heart disease, or stroke. While this is more likely to happen with females, there are documented cases of Fabry disease symptoms isolated to a single organ in both sexes. If you have Fabry disease, it is important to get regular medical care so your doctor can monitor your health. Fabrazyme has been proven to lower GL-3. The lowering of GL-3 suggests that Fabrazyme may improve how Fabry disease affects your body; however a relationship of lower GL-3 to specific signs and symptoms of Fabry disease has not been proven. Talk to your doctor about whether treatment is right for you. 

"Young children don't experience symptoms of Fabry disease"

The build-up of GL-3 in Fabry disease starts early in life and continues over decades. Young children can experience a wide range of symptoms, including pain, gastrointestinal problems, and heat or exercise intolerance. Unfortunately, these early symptoms can often be overlooked or mistaken for other, more common disorders. If you suspect your child may have Fabry disease, a doctor with knowledge of the disease can help establish a definitive diagnosis. Contact Sanofi Genzyme Support Services for help in locating a specialist in your area.

"If pain symptoms become milder, it means the disease is becoming less severe"

Sometimes, Fabry patients who experienced significant pain in adolescence or young adulthood find that their pain decreases as they get older. While it may be tempting to think this means the disease is becoming less severe, research has shown that this is probably not the case. Fabry disease is progressive, and without treatment, GL-3 continues to build up in patients' cells throughout life. Even if pain becomes less severe, GL-3 is continuing to build, and may still cause organ system damage. Regular medical care and disease monitoring is important. Fabrazyme has been proven to lower GL-3, but has not been shown to affect other signs and symptoms of Fabry Disease, such as pain symptoms.

"People with Fabry disease shouldn't exercise"

While it is true that Fabry patients often suffer from heat or exercise intolerance, that doesn't necessarily mean that they can't exercise at all. Drinking fluids, getting proper rest, and avoiding hot weather can all help. See Taking Care of Yourself and talk to your doctor for more information.

If you have Fabry disease in your family, remember that more is being learned all the time. It is important to keep up with the latest medical research to ensure that you are informed and able to advocate effectively for yourself.

Indication and Usage

Fabrazyme® (agalsidase beta) is used to treat patients with Fabry disease. Fabrazyme lowers the amount of a substance called globotriaosylceramide (GL-3), which builds up in cells lining the blood vessels of the kidney and certain other cells.

The lowering of GL-3 suggests that Fabrazyme may improve how Fabry disease affects your body; however a relationship of lower GL-3 to specific signs and symptoms of Fabry disease has not been proven.

Important Safety Information

Fabrazyme can cause serious side effects, including:
Severe Allergic Reactions (anaphylaxis): Life-threatening severe allergic (anaphylactic) reactions have been seen in patients during Fabrazyme infusions. Approximately 1% of patients who have received Fabrazyme either during a clinical study or after Fabrazyme was approved have experienced anaphylactic or severe allergic reactions during their infusion.
  • These reactions have included: localized 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 the vein, hospitalization, and have needed treatment with inhaled drugs called beta-adrenergic agonists to help open the breathing airways, antihistamines, epinephrine (also known as adrenalin), 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 allergic reactions may occur, appropriate medical support should be available during your Fabrazyme infusion.
Infusion-Associated Reactions: In clinical studies with Fabrazyme, 59% of patients experienced infusion-associated reactions during Fabrazyme administration, some of which were severe.
  • 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 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.

Pre-existing Heart Problems: People with advanced Fabry disease may have heart problems, which may 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.

Immune Response and Continued Treatment After Allergic Reaction: In the clinical studies, a few patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies are usually produced by the body’s immune system during an allergic reaction. 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.

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, headache, cough, burning and/or tingling sensation, fatigue, dizziness, swelling in the legs, and rash.
  • Serious and/or frequently occurring side effects (occurring in 5% or more of the patients) thought to be related to Fabrazyme in placebo-controlled and open-label clinical studies have included: chills, fever, feeling hot or cold, trouble breathing, nausea, flushing of the skin, headache, vomiting, burning and/or tingling sensation, fatigue, itching, pain in the hands and feet, high blood pressure, chest pain, throat tightness, abdominal pain, dizziness, rapid heart rate, nasal congestion, diarrhea, swelling in the legs, muscle pain, back pain, paleness of the skin, slow heart rate, hives, low blood pressure, face swelling, rash and sleepiness.
  • Other serious side effects that were seen in the clinical studies included stroke, pain, lack of muscle coordination, slow or irregular heartbeat, stopping of the heartbeat, decreased blood pumped by the heart, dizziness, and kidney problems resulting in too much protein leaving the body in the urine (nephrotic syndrome). These side effects also occur as part of Fabry disease.
  • Since Fabrazyme has been approved, there have been side effects that resulted in death that may or may not be related to the use of Fabrazyme. These included: the heart and/or lungs stop working (known as cardiorespiratory arrest, respiratory failure, and/or cardiac failure), life-threatening infection in the blood stream (known as sepsis), stroke, heart attack, kidney failure, and pneumonia. Some of these side effects were reported in Fabry disease patients with significant underlying disease.

The safety and effectiveness of Fabrazyme in patients younger than 8 years of age have not been studied.

Please see full prescribing information for Fabrazyme.