Gaucher disease is an inherited metabolic disorder that leads to the accumulation of a particular fatty substance throughout the body.
Named for Dr. Philippe C.E. Gaucher, a French physician who first described the disease in 1882, Gaucher disease (GD) is a disorder that leads to the accumulation of a particular lipid.
GD, like other similar metabolic disorders, is referred to as a storage disease, due to the accumulation, or storage, of material in the body. The accumulation is the result of a deficiency of the enzyme acid beta-glucocerebrosidase, which is necessary to break down a particular lipid, glucosyl ceramide.
As it accumulates, the glucosyl ceramide is stored in the scavenger cells of the body, which, taking on a characteristic appearance unique to those affected with this disorder, are called "Gaucher cells." This lipid, which is normally present in only small amounts, may accumulate in the spleen, liver, bone marrow, brain, and the lungs.
Ninety-nine percent of cases are Type 1, in which the brain is not involved; often, the individual seems healthy and the disorder is found when the patient is examined for an unrelated complaint.
Among the patients with Type 1 disease, the more common symptoms involve the bones. The disease causes erosion of bone tissue and fractures.
The brain is involved in Types 2 and 3 Gaucher's disease, and newborn babies with Type 2 Gaucher's disease often die at birth. In Type 2 cases, death may occur within 18 months. In Type 3 cases, the neurological symptoms do not appear until the juvenile years, and disease progression is slower.
The disorder results when an individual inherits defective gene for the enzyme glucocerebrosidase from both parents. Gaucher's disease is common in its more mild forms, especially among Jewish persons of Eastern European origin.
Adults may present with episodes of bone pain and fractures, an enlarged spleen, anemia (low red blood cell count), and thrombocytopenia (low platelet count) causing bruising and bleeding.
The medical history and physical exam often will be supplemented with a bone marrow biopsy or specific blood tests to demonstrate deficient beta-glucocerebrosidase activity in white blood cells.
Previously, severe cases of Type I Gaucher's disease were treated by spleen removal and bone marrow transplants, both of which carry substantial risks. Purification of adequate quantities of alglucerase (glucocerebrosidase-beta-glucosidase) has allowed intravenous administration on a regular basis. The drug reduces the body's total supply of glycolipid and improves symptoms. Unfortunately, it is an exceptionally expensive drug.
What tests need to be done to diagnose and to determine involvement?
What type of Gaucher's disease is it?
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