Learn About Fabry Disease

What is the definition of Fabry Disease?

Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Additional signs and symptoms are possible, which can vary among affected individuals.

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What are the causes of Fabry Disease?

Fabry disease is caused by variants (also known as mutations) in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Variants in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.

How prevalent is Fabry Disease?

Fabry disease affects an estimated 1 in 1,000 to 9,000 people. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.

Is Fabry Disease an inherited disorder?

This condition is inherited in an X-linked pattern. A condition is considered X-linked if the altered gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the GLA gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or rarely may cause no symptoms at all.

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What are the latest Fabry Disease Clinical Trials?
A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease
Summary: This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease.
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Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI
Summary: This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.
Who are the sources who wrote this article ?

Published Date: July 29, 2022Published By: National Institutes of Health

What are the Latest Advances for Fabry Disease?
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Summary: Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Membranous nephropathy without vacuolated podocytes in Fabry disease treated with agalsidase-β and carbamazepine: A case report.
Summary: Membranous nephropathy without vacuolated podocytes in Fabry disease treated with agalsidase-β and carbamazepine: A case report.
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Chaperone Therapy in Fabry Disease.
Summary: Chaperone Therapy in Fabry Disease.