Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients

Medicine (Baltimore). 1992 Nov;71(6):337-53.


We have reviewed our experiences with the clinical, laboratory, radiologic, and genetic features of 53 patients with Gaucher disease. Most were evaluated during early adult life, with a mean age of 33 years. Our patients were evaluated in a referral center, and therefore the data need to be interpreted with caution when applied to the general patient population, which includes a greater proportion of very mild cases. Thirty-nine patients were Ashkenazi Jews, 13 were non-Jewish and 1 was half-Jewish. The most common presenting symptom was bleeding related to splenomegaly and thrombocytopenia. The chronic symptoms, evaluated an average of 20 years after the diagnosis had been established, were mainly skeletal. Splenectomy had been performed in 43% of our patients and there was no evidence that this procedure accelerated the progression of liver and bone involvement. DNA from the patients was examined for 20 different mutations. The association between the 1226G/1226G genotype and a milder clinical course, and between the 1226G/84GG and 1226/1448C genotypes with more severe clinical manifestations, was confirmed. Repeated follow-up examinations in 29 patients revealed that in the majority of the patients, progression of the disease occurs during childhood, adolescence, or early adulthood with a marked tendency for stabilization thereafter. This observation suggests that Gaucher disease in most of the patients is not a relentless progressive disorder but a rather stable disorder during adulthood. The indications for the newly introduced intravenous enzyme replacement therapy as well as of future experimental treatments should be examined in the light of the natural history of the disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Bone Diseases, Metabolic / etiology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Gaucher Disease* / complications
  • Gaucher Disease* / diagnosis
  • Gaucher Disease* / diagnostic imaging
  • Gaucher Disease* / genetics
  • Genotype
  • Humans
  • Infant
  • Liver Diseases / etiology
  • Lung Diseases / etiology
  • Male
  • Middle Aged
  • Radiography
  • Severity of Illness Index
  • Splenectomy