What do you need to know about Gaucher's disease?
Gaucher disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.
The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.
If the bone marrow is affected, it can interfere with your blood's ability to clot.
An enzyme that breaks down these fatty substances doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.
Gaucher disease is an inherited disorder. Symptoms can appear at any age.
Complications
Gaucher disease can result in:
- Delays in growth and puberty in children
- Gynecological and obstetric problems
- Parkinson's disease
- Cancers such as myeloma, leukemia and lymphoma
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
Source:
https://www.mayoclinic.org/diseases-conditions/gauchers-disease/symptoms-causes/syc-20355546
