Gauchier’s disease

DEFINITION

Gaucher’s (go-SHAYZ) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to become much larger than normal and can affect their function.

The fatty substances associated with Gaucher’s disease also can build up in bone tissue. This weakens the bone and increases the risk of fractures. If the bone marrow is affected, it can interfere with your blood’s ability to clot.

An enzyme that breaks down these fatty substances doesn’t work properly in people who have Gaucher’s disease. Treatment often includes enzyme replacement therapy.

An inherited disorder, Gaucher’s disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.

CAUSES

Gaucher’s disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher’s genetic mutation for their child to inherit the condition.

SYMPTOMS

Signs and symptoms of Gaucher’s disease can vary widely. Siblings, even identical twins, with the disease may have different levels of severity. Some people who have Gaucher’s disease have no symptoms at all.

Most people who have Gaucher’s disease experience varying degrees of the following problems:

• Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
• Skeletal abnormalities. Gaucher’s disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
• Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher’s disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.

More rarely, Gaucher’s disease can affect the brain, which may cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher’s disease begins in infancy and typically results in death by the age of 2.

When to see a doctor

If you or your child has any of the signs and symptoms associated with Gaucher’s disease, make an appointment with your doctor.