Splenomegaly and Gaucher Disease

Abstract

Gaucher disease is an autosomal recessive genetic disorder caused by a deficiency of a lysosomal enzyme, β-glucocerebrosidase, which is responsible for the accumulation of glucosylceramide in the lysosomes of macrophages in the liver, spleen and bone marrow. Clinical expression is highly variable from cytopenia, osteoarticular to neurological manifestations, resulting in delayed diagnosis. Diagnosis can be made by measuring the activity of β-glucocerebrosidase, the myelogram or osteomedullary biopsy, and treatment is essentially medical, based on enzyme replacement therapy. Splenectomy is considered in situations where haematological complications are in the foreground, such as hypersplenism, haemorrhagic syndrome, or a symptomatic large splenomegaly. We report the case of a 45-year-oldmalewith arthralgia and a large spleen whose myelogram and osteo-medullary biopsy was in favour of Gaucher disease. In the face of hypersplenism and symptomatic enlarged spleen, a total splenectomy was performed. The histological study showed the accumulation of substances called glucocerebrosides inside the lysosomes of cells in the macrophagic system.