What are the symptoms of Fabry disease?
Fabry disease is often divided into two types, "classic" and "non-classic or late onset". Both forms lead to serious medical problems, but most often people with classic Fabry disease have earlier and more severe symptoms. Classic and non-classic Fabry disease affects both women and men, although symptoms vary more in women due to the way Fabry disease is passed through families.
In Classic Fabry disease, the early signs usually begin in childhood and include heat intolerance, sweating abnormalities, overheating while exercising, protein in the urine, a characteristic starburst pattern on the cornea seen during eye exams, a reddish-purple skin rash or lesions, burning or tingling pains in the hands and feet, chronic tiredness, and gastrointestinal issues, such as chronic diarrhea, bloating, and constipation. Usually the first signs of Fabry disease in kids are a tingling or pain in the hands and feet when overheated or sick and frequent bloating and diarrhea. In adults, these symptoms worsen and can also include decreasing kidney function, abnormal heart rhythms, severe abdominal pain, difficulty eating normal sized meals, numbness in the hands and feet, hearing loss, mini-strokes, fuzzy thinking, dizziness/vertigo, depression, anxiety, and panic attacks. Since the condition is progressive, untreated Fabry disease can lead to severe health problems such as kidney failure, heart disease, as well as nerve and brain problems, such as stroke. Not every person with Fabry disease will present with the same symptoms; however, without treatment, the disease will worsen over time. Some people with non-classic Fabry disease typically do not have childhood symptoms, but can have many of the same health problems as people with classic Fabry disease at a later age. Kidney and heart disease may occur much earlier than in the average person, so monitoring for Fabry-related health problems should start at the time of diagnosis.
There is also an excellent summary about Fabry disease written for doctors at Fabry Disease- GeneReviews.
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