Unusual Cardiac, Renal and Pulmonary Involvement in Gaucher’s Disease Interstitial Glucocerebroside Accumulation, Pulmonary Hypertension and Fatal Bone Marrow Embolization ROBER R. L. SMITH, M.D. GROVER M. HUTCHINS, M.D. GEORGE H. SACK, Jr., M.D., Ph.D’ REN L. RIDOLFI, M.D. zyxwvutsrqponmlkjihgfedcbaZYXWVUTSRQPONMLKJIHGFEDCBA Ba ltim o re , Maryland From the Depamnents of Pathology and Medicine, The Johns Hopkins Medical Institution, Baltimore, Maryland. This study was supported by Grants P50-HL-1765504, HL-14153 and 1 RO 1 CA zyxwvutsrqponmlkjihgfedcbaZYXWVUTSRQPONMLKJIHGFEDCBA 20619-01 from The National Institutes of Health, Public Health Service, Department of Health, Ed- ucation and Welfare. Requests for reprints should be addressed to Dr. Grover M. Hutchins, Depart- ment of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland 21205. Manuscript accepted March 2, 1979. l Andrew Mellon Scholar in Medicine. A 25 year old black woman who had manlfestations of Gaucher’s disease since one year of age is described. This patient had clinically significant cardiac, renal and pulmonary involvement with Gaucher’s dlsease. Interstitial infiltration of the myocardium by Gaucher cells caused decreased left ventricular compliance and decreased car- diac output. In the kidney, Gaucher cells were present in the mesangium of the glomeruli and the interstitium of the cortex. Also, electron dense, intramembranous granular deposits were seen in glomeruli on electron mlcroscopy. The pulmonary findings included pulmonary arterial hypertension, accentuated basilar deposition of glucocerebroside in the interstitium of alveolar septums and fatal bone marrow embolization. Gaucher’s disease, an inherited disorder of glucocerebroside me- tabolism, is uncommon. A deficiency in the activity of the enzyme /3-glucocerebrosidase is responsible for the excess accumulation of glucocerebroside in the cells of the reticuloendothelial system with phagocytic properties [ 1,2]. Gaucher [3], in 1882, first described this entity and considered it a primary epithelioma of the spleen. In 1918, Mandlebaum and Downey [4] proved that the involved cells were reticulum cells and suggested that a metabolic disturbance caused the disease. In 1924, it was demonstrated that the substance deposited in the cells was a cerebroside. The etiology of this familial disorder was finally elucidated in 1965 when Brady and co-workers [5] showed reduced fl-glucocerebrosidase activity in patients with Gaucher’s disease. In addition, three clinical forms of Gaucher’s disease have been described: type 1 or chronic nonneuronopathic (adult), type 2 or acute neuronopathic, and type 3 or subacute neuronopathic (ju- venile) [I]. This grouping is based primarily on the age of onset and the extent of neurologic involvement. The spleen, liver, bone marrow, lymph nodes and, in the type 2 and 3, the brain are the principal organs involved in Gaucher’s disease. Also, cardiac, renal and pulmonary involvement have been described in this disease [6-161. Gaucher’s disease occurs most frequently in Ashkenazic Jews, but it has also been encountered in other ethnic groups [ 17,181 and in blacks [ 191. In this paper we describe a black woman with type 1 Gaucher’s dis- ease who had significant cardiac, renal and pulmonary involve- ment. 352 August 1978 The American Journal of Medlclne Volume 85