ABDOMINAL ULTRASOUND FINDINGS MIMICKING HEMATOLOGICAL MALIGNANCIES INA STUDY OF 218 GAUCHER PATIENTS

Gaucher disease, the most prevalent sphingolipidosis, generally presen ts with splenomegaly, anemia, and thrombocytopenia, Hence, hematologis ts are often the specialists involved in diagnosis and management of t hese patients, We present ultrasonographic characteristics in a cohort of 218 consecutive Gaucher patients evaluated in our clinic during th e past 5 years, Our data emphasize the high prevalence of lesions mimi cking hematological malignancies in Gaucher disease, One fifth of 184 non-splenectomized patients had intra-splenic lesions, 6% of all patie nts had similar lesions in the liver, and 32% of 34 splenectomized pat ients (but none of the other patients) had marked retroperitoneal or p eri-portal lymphadenopathy, The presence of splenic lesions correlated with age and splenic size, but not with extent of bone involvement or genotype, Interestingly, they were not affected by reduction in splen omegaly following enzyme replacement therapy, The importance of these findings is to include Gaucher disease in the differential diagnosis o f splenic or hepatic lesions, especially in Ashkenazi Jews, Conversely , they are relevant for follow-up of all Gaucher patients, including a symptomatic individuals, because of the reported increased incidence o f hematological malignancies in Gaucher disease. (C) 1997 Wiley-Liss, Inc.