Fabry disease Dr Rob Hicks This rare genetic condition affects the body's ability to break down certain fats (lipids), leading to symptoms including burning sensations in the hands and feet, skin lesions and heart problems.

In this article

What causes it? Who's affected?

What are the symptoms? What's the treatment?

Advice and support

Fabry disease is a type of lipid storage disease caused by a defect in the gene that controls an enzyme called alpha-galactosidase A (also known as ceramide trihexosidase). This enzyme is involved in the breakdown of certain lipids (fats).

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.

The gene that's altered is on the X chromosome, making its transmission X-linked. So boys have a 50 per cent chance of inheriting the disorder, while girls have a 50 per cent chance of becoming a carrier. The gene responsible can be detected.

Despite being an X-linked disorder, meaning usually men and not women are affected, in Fabry disease women can be affected. But men are usually more severely affected than women.

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.

Symptoms include:

• Abnormal sensations, such as burning and pain, in the hands and feet
• Red-purple raised lesions, called angiokeratomas, on the skin and in the mouth
• Decreased ability to sweat
• Clouding of the cornea and lens

Kidney failure, heart attacks and strokes are more likely to occur at a younger age.

There's no cure for Fabry disease, although it may be treated by enzyme replacement.

Specific symptoms, such as pain, and complications, such as high blood pressure, can be treated with the appropriate medication. Some of those affected need kidney dialysis or a kidney transplant.

In the future it's hoped gene therapy will be effective in overcoming the problems caused by the disease.

Other therapies being investigated include using small molecules to reduce production of the specific fats within cells, and using small molecules to increase the activity of the enzyme that's still present.

Society for Mucopolysaccharide Diseases

Tel: 0845 389 9901
Email:mps@mpssociety.co.uk
Website: www.mpssociety.co.uk

This article was last medically reviewed by Dr Rob Hicks in April 2008