Radiologic evaluation of osseous compromise in Gaucher’s disease

Abstract

Gaucher disease is the most frequent lisosomal storage disease. It is an inherited and autosomal recessive disorder caused by mutations in the GBA1 gene. The decreased catalytic activity and /or stability of the glucocerebrosidase enzyme cause the accumulation of glucosylceramide in organs rich in monocytes such as spleen, liver bone marrow and lungs causing organ dysfunction and progressive disability. Skeletal manifestations are common even before diagnosis of GD. Radiological evidence of bone disease rang up to 94% of patients in the ICGG registry. Skeletal complications have a high impact on patients’ quality of life. Radiological imaging plays a fundamental roll in the evaluation at base line and followup of these patients. Three studies must be done to complete this task: simple radiology will give us information on bone structure and deformities, dual X-ray absorptiometry (DXA) in gr/cm2 bone to determine bone mineral density and finally MR for the evaluation of bone marrow infiltration. The aim of this article is to present a resume of Gaucher images and the correct protocol to apply.