What are the signs and symptoms of Fabry disease?

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Fabry is a genetic rare disease which a person could inherit from parents. It is a progressive disease that can be threatening to life. Genes get damaged leading to a shortage of an essential enzyme. Due to this the build up of specific proteins in the body cells is short thus causing damage to the stomach, heart, brain, lungs, skin and kidneys. In all ethnic groups, both women and men are affected by the disease however it is men who are affected severely.

Classic FD or Type 1 Fabry Disease and Type 2 Fabry Disease are the two types of the disease. It was in 1898 that symptoms of the disease were first described by a German doctor named Johannes Fabry. In the same year, a British doctor, named William Anderson noted the disease.

Ceramide trihexosidase deficiency, galactosidase alpha gene deficiency, angiokeratoma diffuse, angiokeratoma corporis diffusum and enzyme alpha-galactosidase A deficiency are the other names for Fabry Disease.

Symptoms of Type 1 Fabry Disease include rash on the skin, tingling or burning pain in the feet and hands, lack of sweat production, general heat intolerance, tiredness, nausea, headache, dizziness, problems in the stomach and abnormal corneas. When symptoms become more serious the patient develops stroke, heart disease and kidney disease.

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Symptoms of Type 2 Fabry Disease include decreased functioning of kidneys, advanced failure of kidneys, thickening of heart muscles, enlargement of heart, irregular heartbeat, heart related pain in the chest, diarrhea, pain, stomach problems and strokes. Other symptoms include fever, hearing loss, intolerance for strenuous exercise, lung disease and ringing in the ears.

A test to measure the activity of the leukocyte alpha-Gal A enzyme is done as part of diagnosis of Fabry disease. Diagnosis of Fabry disease is done by a blood test, genetic test or prenatal tests.

Fabry disease has no cure however with the help of enzyme-replacement therapy the condition can be prevented from worsening. Early treatment for Fabry Disease always helps. Preventing further damage, relieving pain and managing symptoms is the main aim of treatment. Medications and enzyme replacement therapy are other treatments to prevent and treat the disease. When renal failure occurs in severe cases, a kidney transplant may also be needed.