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Created with Fabric.js 1.4.5 Fabry disorders Risk Factors The primary risk factor is having family members with the disease or who are carriers of the disease. How do these disorders affect other people? By Merrisses double click to change this header text! double click to change this header text! double click to change this header text! double click to change this header text! Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A (GALA, also known as ceramide trihexosidase). GALA usually works to clear fatty substances called glycosphingolipids from the body. However, in Fabry disease, the absence of GALA causes this fatty substance to accumulate in the blood and blood vessel walls. This leads to constriction of blood flow through the vessels. Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A (GALA, also known as ceramide trihexosidase). GALA usually works to clear fatty substances called glycosphingolipids from the body. However, in Fabry disease, the absence of GALA causesthis fatty substance to accumulate in the blood and blood vessel walls. This leads to constriction of blood flow through the vessels. Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A (GALA, also known as ceramide trihexosidase). GALA usually works to clear fatty substances called glycosphingolipids from the body. However, in Fabry disease, the absence of GALA causes this fatty substance to accumulate in the blood and blood vessel walls. This leads to constriction of blood flow through the vessels. Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system. Causes WebMD Home next page A to Z Guides Email a Friend SavePrint ArticleInformation and ResourcesYour Guide to Fabry DiseaseWhat Is Fabry Disease? Causes Symptoms Getting a Diagnosis Questions for Your Doctor Treatment Taking Care of Yourself What to Expect Getting SupportShare this:ListenFabry DiseaseWhat Is Fabry Disease?Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.Your doctor may call Fabry disease a "storage disorder." It usually starts in childhood and is much more common in men than women.There are treatments that can make a difference in how you feel, day-to-day. Getting support from your family and friends is key, too.CausesYou get Fabry disease from your parents. It's passed down through genes.The problem is that your body can't make an enzyme called alpha-galactosidase A, which you need to break down fatty substances like oils, waxes, and fatty acids. When you have Fabry disease, you either were born without that enzyme or it doesnt work right.SymptomsYou may notice things like:Pain and burning in your hands and feet that get worse with exercise, fever, and hot weather or when you are tiredSmall, dark red spots usually found between your belly button and kneesCloudy visionHearing lossRinging in the earsSweating less than normalStomach pain, bowel movements right after eatingFabry disease can lead to more serious problems, especially in men. These can include:Higher chance of heart attack or strokeSerious kidney problems, including kidney failureHigh blood pressureHeart failureEnlarged heartOsteoporosisGetting a DiagnosisIt can take a long time to get diagnosed with Fabry disease. That's because the symptoms are common and can affect so many different parts of the body.Many people who have Fabry disease don't get diagnosed until years after they first had symptoms. They have often seen several different doctors for various symptoms and sometimes get the wrong diagnosis.If your family history suggests you could be at risk for Fabry disease you may want to ask your doctor about getting genetic testing. Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system. Many people who have Fabry disease don't get diagnosed until years after they first had symptoms. They have often seen several different doctors for various symptoms and sometimes get the wrong diagnosis. Fabry disease can lead to more serious problems, especially in men. These can include:Higher chance of heart attack or strokeSerious kidney problems, including kidney failureHigh blood pressure Heart failureEnlarged heart steoporosis
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