Gaucher disease cardiovascular type

Overview

Type of disease: Rare conditions

Gaucher disease is an inherited condition that affects many different systems of the body. It results from a mutation or error in a person’s DNA or genes.There are five forms of Gaucher disease, but Gaucher disease cardiovascular type (sometimes called Gaucher-like disease) is the most rare. Gaucher disease is considered a lysosomal storage disorder because people affected by Gaucher disease have lysosomes (the recycling center of each cell) that cannot break down certain types of fats. This causes undigested fat molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms. Gaucher disease cardiovascular type affects the heart, causing bone pain, easily broken bones, and eye abnormalities. This disorder can be treated with enzyme replacement therapy to help improve organ function, and in some cases joint replacement surgery to improve movement and lessen bone pain. If detected early, individuals with Gaucher disease cardiovascular type can lead healthier lives. This condition is autosomal recessive which means an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease.

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