Gaucher disease

Description

A rare, inherited condition that leads to the buildup of a fatty substance that damages tissues and organs.

Overview

Gaucher (go-SHAY) disease is a condition in which a fatty substance in cells isn't broken down correctly and builds up in tissues. The disease usually affects the spleen, liver and bones. Enzymes don't break down the fatty substance because of inherited, irregular genes.

Symptoms

Most people who have Gaucher disease have enlarged spleens and livers. Blood disorders can cause fatigue, easy bruising and nosebleeds. Bones are weakened and may break easily without any injury.

Treatments

Medicines can replace the irregular enzyme or limit production of the fatty substance. Bone marrow transplants and spleen removal are rare treatments.