Gaucher's disease

ARTICLE SECTIONS

Definition Symptoms Causes Risk factors

When to seek medical advice Tests and diagnosis Complications Treatments and drugs

Definition

Gaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances build to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, your brain. This accumulation of fatty material in tissues interferes with the normal functioning of organs, and may cause organ enlargement and bone pain.

Gaucher's disease results from an enzyme deficiency, and sometimes the term "glucocerebrosidase deficiency" is used to describe this condition.

Gaucher's disease is most common in Eastern and Central European (Ashkenazi) Jews. It can occur at any age in life, and affects males and females approximately equally.

Gaucher's disease is named after the French doctor who first described the disease in the 1880s. Treatment for Gaucher's disease may involve enzyme replacement and other therapies.

NEXT:

Symptoms