What is Fabry Disease?
Fabry disease, a type of lysosomal storage disorder, is a rare genetic disorder caused by a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency leads to the build-up of a type of fat, globotriaosylceramide (Gb3), in various tissues and organs throughout the body. Over time, the build-up of this fat can cause severe complications, including kidney failure, heart disease, nerve damage and stroke.
While there is no cure for Fabry disease, treatment focuses on managing symptoms, slowing the progression of organ damage, and improving quality of life. There are several Fabry disease treatment options, each with its benefits and risks.
Options for Fabry Disease Treatments
There is currently no cure for Fabry disease. However, two Fabry disease treatments may help to slow down the build-up of Gb3 in the organs and tissues of the body and help to prevent complications:
Enzyme Replacement Therapy
This treatment involves an intravenous (IV) infusion of a lab-developed enzyme that is similar to alpha-galactosidase A every two weeks to help prevent the build-up of Gb3. The enzyme replacement therapy options that are currently available include agalsidase beta and pegunigalsidase alfa. An antihistamine or other medication is often given before enzyme replacement therapy to help prevent an allergic reaction.
Oral Chaperone Therapy
This treatment is available for individuals who have a specific gene mutation in the GLA gene. It involves taking a pill, migalastat, every other day to help stabilize and repair faulty alpha-galactosidase A in the body.
Medications
In addition to these two Fabry disease treatment options, symptom management plays a crucial role in improving quality of life. Symptom management may include medications to manage pain, gastrointestinal issues and cardiovascular complications. Common medications for Fabry disease symptom management include:
- Antiseizure medications (i.e. gabapentin, carbamazepine) for pain relief.
- Blood pressure medications (i.e. ACE inhibitors) for kidney protection.
- Gastrointestinal medications for digestive symptom relief.
- Heart medications to manage cardiovascular complications.
Further, adjuvant treatment helps to address specific complications that may arise due to Fabry disease. Adjuvant treatments may include surgery to manage heart complications or kidney transplants for severe kidney damage.
Lifestyle Changes for Fabry Disease
Lifestyle changes are often recommended to individuals with Fabry disease to support their overall health and well-being. These changes include maintaining a healthy weight, consuming a healthy and balanced diet, regularly exercising, and quitting or avoiding smoking.
Symptoms of Fabry Disease
Symptoms of Fabry disease depend on the type, and some symptoms are mild and may not develop until later in life. Individuals assigned male at birth tend to have more severe symptoms than those assigned female at birth. Symptoms of Fabry disease may include:
- Numbness, tingling and burning in the feet or hands.
- Severe pain during physical activity.
- Cold or heat intolerance.
- Abnormal eye pattern (cornea verticillata).
- Body aches, fatigue and fever.
- Dizziness.
- Constipation, diarrhea and abdominal discomfort.
- Ringing in the ears or hearing loss.
- High levels of protein in the urine.
- Raised, dark skin lesions on the back, chest and genitals.
- Less or a lack of sweating.
- Swelling in the legs, feet or ankles.
When to Speak to Your Doctor
If you’re experiencing symptoms of Fabry disease, it’s important to speak to your medical provider. They may order several tests to diagnose Fabry disease, including an enzyme assay and genetic testing. Managing Fabry disease often requires a multidisciplinary approach for optimal treatment results. Your healthcare provider will work with you to develop an appropriate treatment plan that is individualized for your genetic profile and unique needs.
If you have been diagnosed with Fabry disease, it’s important to speak to your healthcare provider if you have any of the following symptoms:
- Shortness of breath, chest pain, irregular heartbeat or any other symptoms of heart attack.
- Excessive fluid retention and swelling.
- Vision difficulties, extreme dizziness, slurred speech or any other symptoms of a stroke.
- Hearing loss.
- Severe diarrhea or abdominal pain.
Final Notes
Fabry disease treatments use various approaches to manage symptoms, slow the progression of the disease and optimize quality of life. Primary Fabry disease treatment options include enzyme replacement therapy and chaperone therapy that target the underlying enzyme deficiency. Symptom management and adjustive treatments target specific complications or Fabry disease, and lifestyle modifications support your overall health and well-being.
If you’ve recently been diagnosed with Fabry disease, it’s crucial to speak with your healthcare provider to determine the best treatment plan for your gene profile and specific needs to ensure that you experience optimal treatment outcomes and maintain your quality of life.
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