Signs and Symptoms of Fabry Disease
The signs and symptoms of Fabry disease vary from person to person, and they may appear at different ages. Here's an overview of some of the key signs and symptoms:
1. Painful Episodes (Acroparesthesia)
People with Fabry disease often experience pain, usually in their hands and feet. This pain can feel like burning, tingling or a stabbing sensation. It’s caused by the buildup of GL-3 in nerve cells. These painful episodes can happen suddenly and last for a few hours, making it hard to do everyday activities.
2. Skin Problems (Angiokeratomas)
Small, dark red or purple spots may appear on the skin, especially in areas like the lower back, buttocks or legs. These spots are called angiokeratomas and are a common sign of Fabry disease. Though they are not painful, they are one of the most visible signs of the condition.
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3. Eye Issues (Corneal Opacities)
People with Fabry disease may experience blurry vision, difficulty seeing in bright light or trouble with night vision. A specific sign of Fabry disease is corneal opacities—tiny cloud-like areas on the cornea of the eye. While these don’t usually affect vision, they can be seen during an eye exam.
4. Kidney Problems (Kidney Dysfunction)
The kidneys are often affected by Fabry disease. Over time, the buildup of GL-3 in the kidney cells can cause damage, which may lead to kidney dysfunction or kidney failure. This can result in symptoms like swelling in the hands, feet and abdomen or difficulty urinating.
5. Heart Problems (Cardiomyopathy)
Fabry disease can also affect the heart, leading to conditions like heart enlargement or thickening of the heart muscles (cardiomyopathy). This can cause symptoms like shortness of breath, chest pain and an irregular heartbeat.
6. Sweating Issues (Hypohidrosis)
People with Fabry disease often experience difficulty sweating or a lack of sweating, especially in hot temperatures. This condition, called hypohidrosis, can make it harder to regulate body temperature and can lead to overheating.
7. Hearing Problems (Tinnitus and Hearing Loss)
Some individuals with Fabry disease may experience ringing in the ears (tinnitus) or hearing loss. These hearing problems are caused by damage to the inner ear or auditory nerve from the buildup of GL-3.
8. Gastrointestinal Symptoms
Fabry disease can cause digestive issues such as bloating, nausea, diarrhea and abdominal pain. These symptoms occur because GL-3 buildup can affect the gastrointestinal tract. In some cases, constipation may also occur.
9. Stroke Risk
People with Fabry disease may have an increased risk of stroke, especially as they get older. The buildup of GL-3 in the blood vessels can cause blockages and reduce blood flow to the brain, leading to stroke symptoms such as sudden numbness, confusion and difficulty speaking.
10. Fatigue
Chronic fatigue is a common symptom of Fabry disease. The fatigue can be severe, making it difficult to perform daily tasks. This tiredness can be related to the strain on organs like the heart, kidneys and digestive system.
Uncovering the Signs of Fabry Disease
The signs and symptoms of Fabry disease are varied and can affect many parts of the body. Early detection and treatment are key to managing the condition and preventing damage to vital organs. If you or a loved one are experiencing any of these symptoms, it is important to speak with a healthcare provider for proper diagnosis and care.