What is Fabry Disease?
Fabry disease is a rare, inherited disorder. It causes a specific type of fat (Gb3 to build-up in your organs. Galafold is the first and only oral therapy for adults with Fabry disease. Let's look at 10 signs of Fabry disease to know how to recognize it.
1. Pain in the Hands and Feet
One of the hallmark symptoms of Fabry disease is a burning, tingling pain in the hands and feet, known as acroparesthesias. This pain can be mild or severe and may worsen with exercise, stress or changes in temperature. The pain is often one of the first signs to appear in childhood or adolescence.
2. Skin Lesions
People with Fabry disease often develop small, dark red or purple spots on the skin, primarily in the lower abdomen, groin or buttocks. These spots, called angiokeratomas, are clusters of dilated blood vessels and can vary in size and number.
3. Decreased Sweating (Hypohidrosis)
Many individuals with Fabry disease experience reduced sweating, or hypohidrosis. This can make it difficult for the body to regulate temperature, leading to heat intolerance. Patients may feel excessively hot or cold and may struggle to sweat even during physical activity or in hot weather.
4. Gastrointestinal Issues
Digestive problems are common in people with Fabry disease. Symptoms such as abdominal pain, nausea, diarrhea and bloating can occur, especially after meals. These symptoms often mimic other gastrointestinal disorders, making it challenging to identify Fabry disease as the underlying cause.
5. Corneal Dystrophy
Fabry disease can affect the eyes, leading to a specific type of corneal clouding known as corneal dystrophy. While this condition usually does not affect vision, it can be detected during an eye exam. Some patients may also experience cataracts or other eye abnormalities.
6. Hearing Loss
Gradual hearing loss, especially high-frequency hearing, is another sign of Fabry disease. This can occur as a result of damage to the inner ear due to the buildup of Gb3. In some cases, tinnitus (ringing in the ears) may also develop, further affecting hearing.
7. Fatigue
Chronic fatigue is common in Fabry disease, likely due to the body’s ongoing battle with enzyme deficiency and the accumulation of Gb3 in various organs. This constant fatigue can significantly impact a person’s quality of life, making everyday tasks more challenging.
8. Kidney Problems
Fabry disease often affects the kidneys, leading to proteinuria (excessive protein in the urine), reduced kidney function and eventually kidney failure. In some patients, kidney damage may not present symptoms until later stages of the disease, making regular kidney function tests essential for those diagnosed with Fabry disease.
9. Heart Problems
Cardiac complications are a major concern for people with Fabry disease. The buildup of Gb3 in the heart can lead to conditions such as left ventricular hypertrophy (thickening of the heart walls), arrhythmias and heart failure. Patients may experience symptoms such as chest pain, shortness of breath and palpitations.
10. Stroke and Transient Ischemic Attacks (TIAs)
Fabry disease increases the risk of stroke and transient ischemic attacks (TIAs), also known as mini-strokes. This risk is primarily due to the damage caused by Gb3 accumulation in the blood vessels, which can impair blood flow to the brain. Patients with Fabry disease may experience sudden weakness, numbness, difficulty speaking or vision problems, which are all signs of a stroke.
Diagnosing Fabry Disease
Fabry disease can present differently from person to person, and some people may not exhibit symptoms until later in life. Because the symptoms overlap with other more common conditions, diagnosis can be delayed. If you or a family member exhibits several of these signs, it’s essential to seek genetic testing and enzyme activity tests to confirm the diagnosis of Fabry disease.
Treatment for Fabry Disease
Fabry disease is a progressive condition, but treatment options are available to manage the symptoms and slow disease progression. One of the main treatments is enzyme replacement therapy (ERT), which helps supplement the deficient alpha-galactosidase A enzyme. ERT can help reduce the buildup of Gb3 in organs, improving symptoms and preventing further damage.
Another treatment option is Galafold (migalastat), an oral medication that works by stabilizing the body’s own alpha-galactosidase A enzyme in people who have specific genetic mutations. Galafold is taken daily and has been shown to reduce the accumulation of Gb3 in organs, improving quality of life and reducing the need for intravenous enzyme replacement therapy.
In addition to these treatments, patients with Fabry disease often require care from a multidisciplinary team of specialists to manage symptoms related to the heart, kidneys and nervous system. Lifestyle changes, such as maintaining a healthy diet, exercising regularly and avoiding triggers that worsen symptoms, can also be beneficial.