Gaucher's disease: A review for the internist and hepatologist

Gaucher's disease is the autosomally recessively inherited deficiency of th e lysosomal enzyme glucocerebrosidase. Increasing storage of glucocerebrosi des leads to a multi-system disease which prevalence ranges between 1:30.00 0 and 1:50.000 in most countries. Thus only a minority of physicians are aw are of this diagnosis, of the symptoms that should lead to its consideratio n, and of the availability of specific tests that confirm it. Because Gauch er's disease often affects the liver, hepatologists may care for Gaucher pa tients. This review provides the internist and hepatologist with practical information about recent advances in the management of the non-neuronopathi c type 1 of Gaucher's disease. Gaucher's disease, type 1 should be considered when unexplained spleno- and hepatomegaly, anemia, thrombocytopenia, or skeletal disease are present, p articularly in combination. The diagnosis is established by an assay for gl ucocerebrosidase activity in peripheral leukocytes. Lack of awareness and o f widespread availability of the enzyme assay has as yet limited its applic ation in clinical practice, and led to many cases of Gaucher's disease bein g diagnosed by bone marrow and liver biopsy. Alglucerase, placental enzyme preparation of glucocerebrosidase, has proven effective in more than 1,000 patients worldwide. Recently, alglucerase has been exchanged by the recombi nant enzyme preparation imiglucerase, which is equally effective and safe. Enzyme replacement improves hematological abnormalities, hepato-splenomegal y, and quality of life in a matter of a few months. Regression of skeletal complications is usually seen only after 3-4 years. Recently gene therapy t rials, which center on autotransfusion of retrovirally transduced stem cell s, have successfully been started.