Fabry Disease – Causes and Symptoms of Fabry Disease

                                                                                         

Fabry disease is one of several genetically inherited diseases called lysosomal storage disorders. It causes a wide range of signs and symptoms that can range from mild to severe and life threatening. This site connects the Fabry community to information about the causes, diagnosis and management of Fabry disease. The site also provides support to patients, families, and healthcare providers.

Causes of Fabry Disease
The gene that encodes a-Gal A has been isolated and sequenced, and more than 245 different mutations (missense, nonsense, splice, deletion, and insertion errors) have been reported. Attempts to correlate genotype with clinical presentation have been confounded by the fact that very few recurrent mutations have been reported. The typical interfamilial variability of the disease phenotype may be due to other modifying factors, which may be genetically or environmentally derived.

Fabry disease is inherited as an X-linked disorder, meaning that the defective gene is carried on the X (female) chromosome. This means that for a mother who carries the defective gene, each of her sons has a 50% chance of inheriting the disorder and each of her daughters has a 50% chance of being a carrier

All of our hereditary information is contained on genes. We have genes that determine our physical characteristics like our hair color, eye color, height, etc. We also have genes that are responsible for specific functions such as our metabolism and growth.

The deficiency in this enzyme causes certain lipid molecules, called glycosphingolipids, to accumulate in the body's tissues, particularly the heart, kidneys, eyes and nerve tissue.

Symptoms of Fabry Disease
Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea.

The symptoms depend on an individual's level of enzyme deficiency. If the deficiency is severe, symptoms may develop during childhood or adolescence. If it's less severe, they'll probably develop later in life.

Red, raised lesions known as angiokeratomas occur on the skin and within the mouth. The ability to sweat is decreased. The cornea and lens of the eye become clouded. Later, kidney failure occurs which secondarily causes hypertension. Heart function can also be impaired.

The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with metoclopramide or Lipisorb (a nutritional supplement). Early experiments have indicated that enzyme replacement may be useful.

Kidney complications are a common and serious effect of the disease; renal insufficiency and renal failure may worsen throughout life. Proteinuria is often the first sign of kidney involvement. Cardiac complications occur when Gb3 builds up in different heart cells; heart related effects worsen with age and may lead to increased risk of heart disease.

Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment. Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications. Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males. A milder form of the disease has been identified in females.

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