Developmental Disorders of the Lymphatics

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Sunday, December 18, 2005

Fabry's Disease

Alternative Titles: Fabry Disease


Fabry's Disease

What is Fabry's Disease?

Is there any treatment?

What is the prognosis?

What research is being done?


What is Fabry's Disease?

Fabry disease is a lipid storage disorder caused by the deficiency of an enzyme involved in the biodegradation of fats. The enzyme is known as ceramidetrihexosidase, also called alpha-galactosidase A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which then build up in the body and cause a number of symptoms. The gene that is altered in this disorder is on the X-chromosome. If a woman has the mutated gene, her sons have a 50 percent chance of having the condition, and her daughters have a 50 percent chance of being a carrier. Symptoms of the disorder include burning sensations in the hands and feet that get 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. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys may become progressively involved, and require kidney transplantation or dialysis. A number of individuals have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. Some female carriers may also exhibit symptoms of the disorder.

Is there any treatment?

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). Recent experiments indicate that enzyme replacement is effective therapy for patients with this disorder.

What is the prognosis?

Patients with Fabry 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.

What research is being done?

NINDS supports research to find ways to treat and prevent lipid storage disorders such as Fabry disease.

Select this link to view a list of all studies currently seeking patients.

Tel: 660-463-1355 Fax: 660-463-1356

National Tay-Sachs and Allied Diseases Association, 2001 Beacon StreetSuite 204,Brighton, MA 02135 Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134

National Organization for Rare Disorders (NORD), P.O. Box 1968(55 Kenosia Avenue)Danbury, CT 06813-1968 Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)Fax: 203-798-2291


Fabry disease

What is Fabry disease?

Fabry disease is an inherited disorder caused by a buildup of a particular type of fat (lipid) in the body's cells. This buildup results in pain and potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and only affect the heart.

How common is Fabry disease?

This condition affects an estimated 1 in 40,000 to 117,000 live births. Milder forms of the disorder may be more common.

What genes are related to Fabry disease?

Mutations in the GLA gene cause Fabry disease.

The GLA gene makes an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures inside cells that digest and recycle particles that the cell doesn't need. The enzyme normally breaks down a particular molecule called globotriaosylceramide. Mutations in the GLA gene prevent alpha-galactosidase A from breaking down globotriaosylceramide, allowing it to build up in the body's cells. Over time, this buildup damages cells throughout the body, particularly blood vessels in the skin, kidneys, heart, and nervous system.

How do people inherit Fabry disease?

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex chromosomes). In males, who have only one X chromosome, one altered copy of the gene is sufficient to cause the condition. In females, who have two X chromosomes, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In some cases, females with one altered copy of the GLA gene may have mild signs and symptoms related to the condition. Other women with one altered copy of the gene experience severe features of the disorder and require treatment.

Where can I find information about Fabry disease?

You may find the following resources about Fabry disease helpful.

NIH Publications - National Institutes of Health Fabry's Disease Information Page (National Institute of Neurological Disorders and Stroke)

MedlinePlus - Health Information Health Topic: Genetic Brain Disorders

Educational resources - Information pages (2 links)

Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary

Gene Tests - DNA tests ordered by healthcare professionals - Linking patients to medical research

PubMed - Recent literature

What other names do people use for Fabry disease?

Alpha-galactosidase A deficiency
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma diffuse
Ceramide trihexosidase deficiency
Fabry's Disease
GLA deficiency
Hereditary dystopic lipidosis

See How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Fabry disease?

See How can I find a genetics professional in my area? in the Handbook.

Ask the Genetic and Rare Diseases Information Center.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will have the condition?
Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

Genetics and health
Resources for Patients and Families
Resources for Health Professionals

What glossary definitions help with understanding Fabry disease?

ceramides ; chromosome ; complication ; deficiency ; enzyme ; gene ; heart attack ; lipid ; lysosome ; molecule ; mutation ; nervous system ; recessive ; sign ; symptom ; X-linked recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (3 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.

See How can I find a genetics professional in my area? in the Handbook.

National Institutes of Health


See Also:

Fabry Disease


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