Signs and Symptoms of Fabry Disease
Fabry disease is a rare condition caused by a problem with an enzyme that helps break down certain fats in the body. It is important to know the signs and symptoms of Fabry disease so it can be diagnosed and treated early.
1. Pain and Burning Sensations
One of the most common signs of Fabry disease is pain, especially in the hands and feet. This pain may feel like a burning or tingling sensation. It can be mild or very severe and may be worse at night. This condition is called "acroparesthesia", and it often starts in childhood or adolescence.
2. Skin Rashes
People with Fabry disease may develop small, raised, reddish or purple spots on their skin, often on the legs, arms or torso. These spots are called "angiokeratomas". They are usually not painful, but they can be a sign that Fabry disease is affecting the body.
3. Sweating Problems
Another common symptom of Fabry disease is trouble with sweating. Some people with this condition may sweat too little or not at all. This can cause problems with body temperature regulation, especially in hot weather or during exercise. It may lead to overheating, which can be dangerous.
4. Fatigue
Many people with Fabry disease feel unusually tired or fatigued. This feeling of extreme tiredness may be caused by the body’s organs being affected by the build-up of fats. This fatigue can interfere with everyday activities, making it harder to work, exercise or enjoy life.
5. Kidney Problems
As Fabry disease progresses, it can cause damage to the kidneys. This may lead to kidney problems such as protein in the urine, high blood pressure or kidney failure in severe cases. People with Fabry disease may also experience swelling in the legs or feet, which is a sign of kidney trouble.
6. Heart Issues
The build-up of fats in the heart can also cause problems. This can lead to heart enlargement, heart failure and abnormal heart rhythms. Some people may experience chest pain or shortness of breath. It is important to get heart checkups if you have Fabry disease to monitor any changes.
7. Eye Problems
Fabry disease can affect the eyes, leading to blurry vision or sensitivity to light. In some cases, the cornea of the eye may become clouded, causing vision problems. People with Fabry disease may need regular eye exams to check for any changes in vision.
8. Hearing Problems
Some people with Fabry disease may experience hearing loss or ringing in the ears (tinnitus). This may occur as the condition affects nerves in the ears, making it difficult to hear properly.
9. Stomach Issues
People with Fabry disease may also have digestive problems. This can include abdominal pain, diarrhea, nausea or constipation. These symptoms can be upsetting and make it difficult to eat or feel comfortable.
10. Stroke Risk
In rare cases, Fabry disease can increase the risk of having a stroke. This happens because the build-up of fats can affect blood flow to the brain, leading to blood clots or blockages. If someone with Fabry disease suddenly has trouble speaking, walking or seeing, they should seek medical help right away.
Recognizing the Symptoms
Fabry disease is a serious condition, but if it is diagnosed early, treatments are available to help manage the symptoms and slow down the progression of the disease. If you or someone you know is experiencing any of the signs or symptoms listed above, it is important to talk to a healthcare provider. Early diagnosis and treatment can help improve quality of life and reduce the risk of serious complications like heart or kidney failure.