Q J Med 2001; 94: 399-402
© 2001 Association of Physicians
Editorial |
Gaucher's disease—an exemplary monogenic disorder
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge
It perhaps comes as no surprise that continued study of any defined clinical disorder will reveal diverse manifestations hitherto considered to be unimportant or rare. The paper by Goitein and colleagues from Jerusalem in this issue of QJM focuses on the life-threatening pulmonary manifestations of the inherited multi-system disorder, Gaucher's disease. Pulmonary fibrosis and other signs of lung infiltration, pulmonary arterial hypertension, and hepatopulmonary syndrome with cyanosis and intrapulmonary arterio-venous shunting, are now well-documented in this lysosomal disease.
How do these unusual manifestations come about? Earlier clinical descriptions drew attention to cells of macrophage origin as the principal pathological focus of this condition; infiltration of the spleen, liver and bone marrow has always been considered to dominate the clinical picture of the established disorder in adults, which is typically accompanied by hepatosplenomegaly, pancytopenia and recurrent episodes of bone infarction crises. Gaucher's disease is a monogenic disease but, as with most
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