Gaucher disease

Gaucher disease

An inherited illness caused by a mutation of the gene responsible for an enzyme called glucocerebrosidase, which the body needs to break down a fat. As a result, fat accumulates, mostly in the liver, spleen and bone marrow. Results are pain, fatigue, jaundice, bone damage, anemia and even death.
Affects about one in 100,000 people in the general population. According to the National Gaucher Foundation, 2,500 Americans are afflicted.
Most common in descendants of Jewish people from Eastern Europe (1 in 450 people), although individuals from any ethnic group can be affected.
Most effective treatment uses enzyme replacement therapy that can stop and often reverse the symptoms.
Source: National Institute of Neurological Disorders and Stroke