Fabry's Disease

Introduction: Fabry's Disease

Fabry's Disease: Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. (Source: excerpt from NINDS Fabry's Disease Information Page: NINDS) ... more about Fabry's Disease.

Fabry's Disease: Genetic fat storage disorder. More detailed information about the symptoms, causes, and treatments of Fabry's Disease is available below.

Symptoms of Fabry's Disease

• Eye symptoms
• Cloudiness of the cornea
• Burning sensations in hands and feet - worse with exercise and hot weather
• Reddish-purple skin blemishes - small and raised
• Gastrointestinal problems

See full list of 45 symptoms of Fabry's Disease

Causes of Fabry's Disease

Read more about causes of Fabry's Disease.

Treatments for Fabry's Disease

• Pain relief - for hand and feet pain
  • Tegretol (carbamazepine)
  • Dilantin
• Treatments for gastrointestinal symptoms:
  • Metoclopramide

See full list of 7 treatments for Fabry's Disease

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Patient Surveys for Fabry's Disease

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Prognosis for Fabry's Disease

Prognosis for Fabry's Disease: Patients with Fabry's disease usually survive into adulthood, but they are at risk for strokes, heart attacks, and kidney damage. It is anticipated that enzyme replacement and eventually gene therapy will eliminate these difficulties. (Source: excerpt from NINDS Fabry's Disease Information Page: NINDS)

More about prognosis of Fabry's Disease

Reseach about Fabry's Disease

Visit our research pages for current research about Fabry's Disease treatments.

Clinical Trials for Fabry's Disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Fabry's Disease include:

• Alternative Dosing and Regimen of Replagal to Treat Fabry Disease - This study has been completed (Current: 23 Nov 2006) - Replagal
• Replagal Enzyme Replacement Therapy for Children With Fabry Disease - This study is no longer recruiting patients (Current: 23 Nov 2006) - Replagal (Galactosidase Alfa)
• Replagal Enzyme Replacement Therapy for Adults With Fabry Disease - This study has been completed (Current: 23 Nov 2006) - Replagal (Agalsidase Alfa),Replagal
• AT1001 to Treat Fabry Disease - This study is currently recruiting patients (Current: 23 Nov 2006) - AT1001
• Vasodilation in Patients With Fabry's Disease - This study has been completed (Current: 23 Nov 2006)

See full list of 31 Clinical Trials for Fabry's Disease

Statistics for Fabry's Disease

• Medical statistics for Fabry's Disease
• Prevalence and incidence statistics for Fabry's Disease
• Death and Mortality statistics for Fabry's Disease
• Society statistics for Fabry's Disease

Types of Fabry's Disease

• Fabry's Disease of female carrier - milder form in some carrier females

Read more about Types of Fabry's Disease

Stories from Users Related to Fabry's Disease

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Article Excerpts about Fabry's Disease

Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. (Source: excerpt from NINDS Fabry's Disease Information Page: NINDS)

Definitions of Fabry's Disease:

Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems. - (Source - Diseases Database)

Fabry's Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Fabry's Disease, or a subtype of Fabry's Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Fabry's Disease as a "rare disease".
Source - Orphanet