Service d’hématologie clinique, Institut de cancérologie et d’hématologie, CHU de Brest, Service d’hématologie biologique, CHU de Brest
Physiological hemolysis (1/10 of the total erythrocyte mass per day) needs glucocerebrosidase lysosomal enzymatic activity into macrophages. Such an activity is critical for degradation of glucosylceramide, which is an important constituent of biological membranes. When glucocerebrosidase activity is lacking, layers of crystallized glucosylceramide accumulates into macrophage tubular structures as characteristic storage inclusions of Gaucher’s cells. Splenic macrophages, being impaired in catabolism of erythrocytes, accumulate and determine splenomegaly, occasionally painful (abdominal pain), asthenia and peripheral thrombocytopenia leading to the diagnosis of the disorder as soon as cutaneous and mucous bleeding are manifested. Bone marrow examination shows typical medullary Gaucher large macrophages expressing granular or fibrillar distented cytoplasm of “wrinkled tissue paper” appearance and eccentric nuclei. The diagnostic is confirmed by the intraleucocytic activity of the β-glucocerebrosidase, which reached 10-30 % of the normal value.