What is Fabry Disease?
Fabry disease is a rare genetic condition caused by the buildup of a fatty substance called globotriaosylceramide (GL-3) due to an enzyme deficiency. Several treatment options help manage symptoms and improve quality of life. This article will explore common signs and symptoms of Fabry disease as well as treatment approaches, including innovative therapies like Galafold.
Common Signs and Symptoms of Fabry Disease
Signs and symptoms of Fabry disease can vary depending on the severity of a person’s condition. However, these are some of the most common symptoms:
1. Pain and Burning Sensations
Episodes of severe, burning pain or tingling, primarily in the hands and feet can be a common sign of Fabry disease. They can be triggered by heat, exercise, fever, stress or fatigue.
2. Decreased Sweating
Fabry disease can take the form of a reduced ability to sweat, leading to overheating. This can increase susceptibility to heat exhaustion and heatstroke.
3. Gastrointestinal Issues
GI issues such as abdominal pain, diarrhea, nausea and vomiting are common. GL-3 accumulation affects the gastrointestinal tract's function, which can lead to weight loss and nutritional deficiencies.
4. Skin Lesions
People with Fabry disease often report small, dark red to black raised spots on the skin. They are most commonly found around the belly button, hips, thighs and genital area.
5. Corneal and Lens Opacities
A less common but still noted symptom of Fabry disease involves patterns in the cornea that are detectable during an eye exam. They generally do not affect vision but are key diagnostic indicators. These patterns can sometimes feel like dryness or grittiness in the eyes.
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Fabry Disease Treatment Options
1. Galafold (Migalastat)
Galafold is a groundbreaking treatment for Fabry disease and serves as the first and only oral therapy approved for adults. It's a good treatment option for many due to its convenient and simple oral administration. In addition, it has a targeted treatment for individuals with amenable genetic variants and it reduces reliance on intravenous treatments.
Galafold works by stabilizing specific mutant forms of the alpha-galactosidase A enzyme, improving its function and reducing GL-3 buildup.
2. Enzyme Replacement Therapy (ERT)
Enzyme Replacement Therapy is a traditional treatment for Fabry disease that supplements the deficient enzyme through intravenous infusions. A common ERT option is Fabrazyme (Agalsidase Beta), which helps by reducing GL-3 deposits and alleviates symptoms.
ERT is effective in reducing GL-3 buildup and has a proven track record for managing disease progression. However, some people might dislike the biweekly infusions. Some report negative infusion-related reactions.
3. Pain Management
Pain is a common symptom of Fabry disease. Managing pain involves a combination of medication and lifestyle changes. It is important to adopt pain management techniques in tangent with other treatment options.
Options include neuropathic pain medications that can reduce nerve pain, as well as nonsteroidal anti-inflammatory drugs that help manage mild to moderate pain.
4. Lifestyle Modifications
While it might seem simple, lifestyle changes can have a large positive impact on overall well-being for individuals with Fabry disease. Some of the lifestyle modifications include:
- Hydration. Staying well-hydrated supports kidney health, which is often affected by the disease.
- Regular exercise. Low-impact activities like swimming or yoga can improve cardiovascular health.
- Dietary adjustments. Eating a balanced diet low in sodium and processed foods helps reduce the burden on kidneys and the heart.
5. Kidney Disease Management
Fabry disease often leads to kidney complications, such as proteinuria or kidney failure.
Many people opt for ACE Inhibitors or ARBs to manage their kidney disease, which are medications that reduce proteinuria and slow kidney damage. In more severe cases, patients will rely on dialysis or a kidney transplant to treat their kidney disease.
6. Supportive Therapies
Supportive care plays a vital role in addressing symptoms and enhancing quality of life. Some of these therapies can include physical therapy which helps manage fatigue and mobility challenges, as well as psychological support. This consists of counseling or support groups that assist with emotional and mental health challenges.
7. Gene Therapy (Emerging Option)
Gene therapy is an experimental approach being researched as a treatment option for Fabry disease. It involves delivering a functional copy of the faulty gene to restore enzyme production. Ongoing clinical trials offer hope for a more permanent solution and research is ongoing.