Massive hepatic fibrosis in Gaucher's disease: Clinicopathological and radiological features

Hepatomegaly is frequent in patients with type 1 Gaucher's disease and is a ssociated with infiltration of the liver with pathological macrophages. Mos t patients suffer no significant clinical consequences, but a few develop p ortal hypertension which may progress to parenchymal liver failure. We desc ribe four patients with Gaucher's disease who have developed portal hyperte nsion. We have reviewed their clinical histories and all available histolog ical and radiological material. All had severe Gaucher's disease with multi -organ involvement, and had undergone splenectomy in childhood. Histologica lly, this advanced liver disease was characterized by a picture of extreme and advanced confluent fibrosis occupying the central region of the liver. This massive fibrosis is associated with characteristic radiological appear ances. The liver histology in these cases is highly unusual and virtually u nknown in other conditions. Our studies indicate that without specific trea tment the liver disease is progressive and rapidly fatal. However, institut ion of enzyme replacement therapy with imiglucerase may have beneficial eff ects even when the condition is far advanced.