Gaucher disease

Updated: 2023-08-03

Description

An inherited condition in which an enzyme that breaks down fat doesn't work properly.

Overview

Gaucher (go-SHAY) disease is a condition in which an enzyme that breaks down fat doesn't work properly. As a result, fat builds up in organs such as the spleen and liver, affecting their functions.

Symptoms

Most people who have Gaucher disease have abdominal complaints, weakened bones and blood disorders that can cause fatigue, easy bruising and nosebleeds. Fat may build up in bones, making them prone to breaks.

Treatments

Treatments to control symptoms include medicines, bone marrow transplants and spleen removal.