Gaucher’s disease Type I effect

Thursday, June 7, 2012

Gaucher’s disease Type I effect (or non-neuropathic type) is the most common form of the disease, occurring in approximately 1 in 50,000 live births. It occurs most often among persons of Ashkenazi Jewish heritage. Symptoms may begin early in life or in adulthood and include enlarged liver and grossly enlarged spleen (together hepatosplenomegaly); the spleen can rupture and cause additional complications.
Skeletal Gaucher’s disease Type I effect and bone disease may be extensive.  Spleen enlargement and bone marrow replacement cause anemia, thrombocytopenia and leukopenia. The brain is not affected pathologically, but there may be lung and, rarely, kidney impairment.

Patients in this group usually bruise easily (due to low levels of platelets) and experience fatigue due to low numbers of red blood cells. Depending on disease onset and severity, type 1 patients may live well into adulthood. Many patients have a mild form of the disease or may not show any symptoms. ( Definition wikipedia about Gaucher’s disease Type I effect ).
Gaucher disease type 1 effect pictures