9 Options for Treating Fabry Disease
Fabry disease is a rare genetic disorder that affects the body's ability to break down a type of fat called globotriaosylceramide (GL-3 or Gb3). This buildup of fat in various cells leads to a wide range of symptoms, including pain, digestive issues, skin problems, heart complications and kidney damage. While there is no cure, several treatments and lifestyle adjustments can help manage symptoms and improve quality of life. Keep reading to learn how to manage symptoms of Fabry disease.
1. Galafold (Migalastat): A Targeted Treatment
One of the primary treatments for Fabry disease is Galafold (migalastat). This medication is specifically designed for people with certain genetic mutations in the GLA gene, which is responsible for producing the enzyme alpha-galactosidase A. In Fabry disease, this enzyme is either missing or dysfunctional, leading to the buildup of Gb3 in cells.
Galafold works as a chaperone therapy—it helps stabilize and enhance the function of the body's own enzyme, allowing it to break down the harmful fat more effectively. Unlike enzyme replacement therapy (ERT), which involves infusions, Galafold is an oral medication taken every other day, making it a more convenient option for eligible patients.
Not everyone with Fabry disease can use Galafold, as it only works in individuals with specific amenable mutations. A doctor can determine if this treatment is suitable through genetic testing.
2. Enzyme Replacement Therapy (ERT)
For those who do not qualify for Galafold, enzyme replacement therapy (ERT) is another key treatment option. ERT involves regular intravenous infusions of a lab-made version of the missing enzyme. The two main ERTs available are:
- Agalsidase beta (Fabrazyme).
- Agalsidase alfa (Replagal) (not available in all countries).
ERT helps slow the progression of Fabry disease by reducing the buildup of harmful fat in cells. However, it does not completely reverse existing damage and must be taken consistently to be effective. Some patients experience infusion-related reactions, so pre-medications like antihistamines or steroids may be needed.
3. Pain Management
One of the most common and distressing symptoms of Fabry disease is neuropathic pain, which results from nerve damage. It often affects the hands and feet, causing burning or tingling sensations.
To manage pain, doctors may prescribe:
- Neuropathic pain medications, such as gabapentin or pregabalin.
- Antidepressants, like duloxetine or amitriptyline, which also help with nerve pain.
- Pain relievers, such as acetaminophen or mild opioids (for severe cases).
Patients should avoid overheating, as heat can trigger or worsen Fabry-related pain. Staying cool, taking breaks and using cooling devices can help.
4. Kidney Protection
Fabry disease can cause progressive kidney damage, leading to kidney failure if not managed properly. To protect kidney function:
- Doctors may prescribe angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs), which help reduce kidney stress.
- Regular kidney function tests should be performed to monitor any decline.
- Staying hydrated and following a kidney-friendly diet (low in salt and processed foods) can help.
For advanced kidney disease, dialysis or kidney transplantation may be necessary.
5. Heart Health
Fabry disease can cause heart problems, such as an enlarged heart (cardiomyopathy), irregular heart rhythms and heart failure. To manage heart symptoms:
- Beta-blockers or calcium channel blockers may be used to regulate heart rhythm.
- Blood thinners (anticoagulants) might be prescribed to reduce the risk of stroke.
Regular heart check-ups with an echocardiogram and ECG are essential.
6. Digestive Support
Many people with Fabry disease experience gastrointestinal issues, including diarrhea, nausea and stomach pain. These symptoms occur due to the buildup of Gb3 in the digestive tract.
Management strategies include:
- Dietary adjustments, such as avoiding high-fat or high-fiber foods that can trigger symptoms.
- Medications, including antidiarrheals (like loperamide) or acid reducers (like proton pump inhibitors).
- Eating smaller, more frequent meals to ease digestion.
7. Skin and Sweating Issues
Some individuals with Fabry disease experience angiokeratomas, which are dark red or purple skin lesions, and reduced sweating (anhidrosis), which can cause overheating.
- Angiokeratomas do not usually require treatment but can be removed with laser therapy if bothersome.
- Anhidrosis can be managed by staying in cool environments and using cooling vests or fans.
8. Mental Health and Support
Living with a chronic illness like Fabry disease can be emotionally challenging. Anxiety, depression and feelings of isolation are common. Patients can benefit from:
- Counseling or therapy to help with emotional struggles.
- Support groups to connect with others facing similar challenges.
- Educational resources to stay informed and empowered about managing the disease.
9. Lifestyle Adjustments for Better Health
In addition to medical treatments, making healthy lifestyle choices can improve overall well-being:
- Stay active. Low-impact exercises like walking or swimming can help maintain mobility and heart health.
- Eat a balanced diet. A diet rich in fruits, vegetables. and lean proteins can support kidney and heart health.
- Manage stress. Relaxation techniques like deep breathing or meditation can help with pain and anxiety.
Final Notes
Managing Fabry disease requires a combination of treatments and lifestyle adjustments. Galafold is an important option for those with specific mutations, while enzyme replacement therapy is available for others. Pain management, kidney and heart care and emotional support all play a crucial role in improving quality of life.
Regular check-ups with a multidisciplinary team of specialists—including nephrologists, cardiologists and neurologists—are essential for monitoring symptoms and adjusting treatment as needed. By staying informed and proactive, individuals with Fabry disease can lead healthier and more comfortable lives.
If you or a loved one has Fabry disease, consult a healthcare provider to explore the best treatment options for your specific case.
Keep reading for information on how to find the best Medicare Advantage Plan.