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  1. HOMEPAGE
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  4. GAUCHER DISEASE
Gaucher disease
Last Updated on August 3, 2023
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.

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Prepared by Koc University Hospital Medical Editorial Board.

Update Date:

26 July 2024

Publication Date:

26 July 2024
For your questions and suggestions, you can contact our editorial team using the e-mail address below.
kuhinfo@kuh.ku.edu.tr
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