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Skeletal involvement is a major source of complications in patients with Type 1 Gaucher disease. To investigate the bone density and potential usefulness of bone densitometry in Gaucher disease, dual-energy X-ray absorptiometry was used to measure the density of the lumbar spine, femoral neck, trochanter, and distal radius in 61 adult patients ranging in age from 22 to 77 years. The mean bone density at each site was significantly lower than expected for age and sex. The severity of the osteopenia correlated significantly with other clinical indicators of disease severity, including the N370S/84GG genotype, prior splenectomy, and hepatomegaly. The bone density measurements also correlated significantly with the severity of skeletal disease as assessed by skeletal radiography. Vertebral density remained an independent predictor of the severity of bone involvement even after controlling for age, sex, weight, genotype, splenectomy, and hepatomegaly. These findings suggest that bone density measurements provide a quantitative assessment of bone involvement in Type 1 Gaucher disease, which may permit serial, noninvasive monitoring of bone changes in this progressive disorder.
Pastores et al. (Fri,) studied this question.