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Pulmonary Hypertension Developing after Alglucerase Therapy in Two Patients with Type 1 Gaucher Disease Complicated by the Hepatopulmonary Syndrome

Arthur Dawson, MD; Darlene J. Elias, MD; David Rubenson, MD; Stephen H. Bartz, MD, PhD; Paul R. Garver, MD; Andrea C. Kay, MD; Colin M. Bloor, MD; and Ernest Beutler, MD
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From Scripps Clinic and Research Foundation and the Scripps Research Institute, La Jolla, California; and the University of California at San Diego Medical Center, San Diego, California. Grant Support: By the General Clinical Research Center Grant M01-RR00833 and Department of Academic Affairs, Scripps Clinic and Research Foundation. Requests for Reprints: Arthur Dawson, MD, Division of Chest and Critical Care Medicine, Scripps Clinic and Research Foundation, 10666 North Torrey Pines Road, La Jolla, CA 92037. Current Author Addresses: Drs. Dawson and Elias: Division of Chest and Critical Care Medicine, Scripps Clinic and Research Foundation, 10666 North Torrey Pines Road, La Jolla, CA 92037. Drs. Rubenson and Bartz: Division of Cardiovascular Diseases, Scripps Clinic and Research Foundation, 10666 North Torrey Pines Road, La Jolla, CA 92037.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1996;125(11):901-904. doi:10.7326/0003-4819-125-11-199612010-00005
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Gaucher disease is an autosomal-recessive disorder that is caused by a deficiency of the enzyme glucocerebrosidase and results in accumulation of an insoluble glucocerebroside in macrophages. Type 1 (chronic non-neuropathic or “adult”) Gaucher disease is usually characterized by hepatosplenomegaly, thrombocytopenia, and skeletal complications (including bone pain, osteonecrosis, and pathologic fractures) [12]. With the exception of splenectomy, few options were available for treating this disorder until enzyme replacement therapy with alglucerase became available [3]. Pulmonary involvement has long been recognized as a rare complication of Gaucher disease. Pulmonary hypertension, severe hypoxemia, and infiltration of the lungs with Gaucher cells have been described in case reports and small case series.

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Grahic Jump Location
Figure 1. Chest radiograph of patient 1 after 12 months of therapy with alglucerase. Chest radiograph of patient 1 after 36 months of therapy with alglucerase. Increased prominence of the main pulmonary artery and an increase in the diameter of the right pulmonary artery from 12.5 mm to 16.5 mm can be seen ( ). Lung biopsy specimen of patient 2 obtained 3 years before treatment. A small pulmonary artery in the region of a terminal bronchiole shows medial hypertrophy. (Hematoxylin-eosin stain; original magnification, × 250.).
Grahic Jump Location




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