Fabry's Disease

Fabry's disease is a genetic disorder related to the lack of an enzyme needed for normal metabolism. The disease causes the enzyme to collect in many tissues.

Symptoms

In men, a rash typically appears on the lower part of the body. Other signs include:

• Opaque areas in the corneas
• Feverish episodes
• Burning pain in the hands and feet

Women who have inherited only one X-chromosome with this disorder may have no symptoms. If they do, the symptoms are much milder than for men. They may still have opaque areas in their corneas.

Causes and Risk Factors

This is a genetic condition that is inherited through an X-chromosome.

Diagnosis

Diagnosis in men is based on the appearance of the rash and other symptoms.

Prenatal diagnosis is possible through amniocentesis or chorionic villi sampling. Death can occur from kidney failure or complications involving the heart or brain due to high blood pressure or other vascular diseases.

Treatment

Treatment is supportive, especially in patients with fever or pain. Research into methods for replacing the missing enzyme is currently underway, but the effectiveness of this therapy depends on the availability of large amounts of the enzyme.

Kidney transplantation can help in treating kidney failure associated with this condition.

Resources at Cedars-Sinai

• Lysosomal Storage Disease Program
• Medical Genetics Institute