Gaucher’s Disease
Gaucher’s disease is caused by a build-up of particular fatty substances, especially the glycolipid glucocerebrosides, mostly in the liver and spleen. The build-up of these fatty substances causes these organs to enlarge and disrupt their functions. However, Gaucher’s disease can also cause fatty substances to build up in bone tissues, weakening the bones and increasing the risk of bone fractures. Likewise, the disease could affect the bone marrow. The disease will interfere with the system’s blood-clotting ability if that happens.
The disease is a rare genetic disorder that children can inherit from their parents. A person with Gaucher’s disease lacks an enzyme called glucocerebrosidase, which could break down lipids (fatty substances), causing them to build up in the liver and spleen, enlarging them and preventing them from working normally. Gaucher’s disease can also affect the eyes, brain, and lungs.
Aside from having an abnormally large liver or spleen, a person with Gaucher’s disease may have skeletal abnormalities, low levels of platelets or thrombocytopenia, and anemia or low levels of circulating red blood cells. Due to these conditions, which affect blood clotting, the patient may have bleeding problems.
