Gaucher disease is a condition in which you are missing an enzyme that breaks down fatty substances called lipids.
Lipids start to build up in certain organs such as your spleen and liver.
Gaucher disease is a rare genetic disorder that is passed down from parents to children which means it's an inherited disease.
Major signs and symptoms of Gaucher disease include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia ), easy bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, and joint conditions such as arthritis.
The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.
Adults with the type 1 form of Gaucher disease can expect normal life expectancy with enzyme replacement therapy.
General symptoms of Gaucher disease may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes.
Gaucher disease is broken up into three common types.
The signs and symptoms of Gaucher disease include.
Enlarged spleen.
Enlarged liver.
Eye movement disorders.
Yellow spots in the eyes.
Not having enough healthy red blood cells (anemia)
Extreme tiredness (fatigue)
Bruising.
Lung problems.
Gaucher disease is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside.
Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside.