Fabry disease

Fabry disease is a metabolic disorder that is part of a group known as lysosomal storage diseases. It causes fatty substances to build up in the blood and blood vessels. The buildup slows or blocks blood flow to the organs. It can cause problems in the skin, kidneys, heart, and nervous system.

Causes

Fabry disease is caused by low levels of an enzyme called alpha galactosidase-A due to a problem in the genes. This enzyme is needed to break down fatty substances. The specific genes that create the enzymes are faulty. The faulty gene is inherited from the parents. Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms, but they can pass the gene to their offspring. However, some women do have symptoms. Women may sometimes be as severely affected as men too.

Risk Factors

Factors that may increase the risk of Fabry disease include:

• Having family members with the disease
• Having a family history of kidney failure

Symptoms

Symptoms may begin in childhood or early adulthood. Common symptoms include:

• Pain and burning sensations in the hands and feet—often worse during exercise, fatigue, or fever.
• Spotted, dark reddish-purple skin lesions between the belly button and the knees.
• Decreased sweating
• Vision problems
• Hearing loss
• Delayed puberty or delayed growth

As adults, both male and female may have the following complications due to blood vessel blockage:

• Severe kidney problems
• Early stroke or heart attack
• High blood pressure
• Heart failure, left ventricular hypertrophy
• Mitral valve prolapse or insufficiency
• Frequent bowel movements after eating
• Diarrhea Joint or back pain
• Ringing in the ears or vertigo
• Chronic bronchitis or shortness of breath
• Osteoporosis

Diagnosis

• Analysis of the symptoms and medical history.
• A physical examination will be done.
• Diagnosis is usually made based on the symptoms listed above.
• A test to measure the alpha galactosidase - A enzyme or DNA test can confirm Fabry disease.

Tests

• Electrocardiography
• Microscopic examination of urine
• Cardiomegaly Brain MRI or computed tomography (CT) scans
• MR angiography (MRA)
• CT angiography (CTA) neurologic examination

Treatment

There is no cure for Fabry disease. There is medication to treat the condition. 

Outlook (Prognosis)

Patients with Fabry disease often survive into adulthood but are at increase risk of strokes, heart attack and heart disease and kidney failure.

Prevention

There is no known way to prevent Fabry disease. Genetic counseling can be considered if there is family history of the disorder.

Resources

Fabry disease Organization