Pulmonary Hypertension Developing after Alglucerase Therapy in Two Patients with Type 1 Gaucher Disease Complicated by the Hepatopulmonary Syndrome
Authors: Arthur Dawson
Journal: Annals of Internal Medicine (1996)

Brief Communications1 December 1996Pulmonary Hypertension Developing after Alglucerase Therapy in Two Patients with Type 1 Gaucher Disease Complicated by the Hepatopulmonary SyndromeArthur 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, MDArthur Dawson, MDFrom 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.Search for more papers by this author, Darlene J. Elias, MDFrom 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.Search for more papers by this author, David Rubenson, MDFrom 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.Search for more papers by this author, Stephen H. Bartz, MD, PhDFrom 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.Search for more papers by this author, Paul R. Garver, MDFrom 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.Search for more papers by this author, Andrea C. Kay, MDFrom 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.Search for more papers by this author, Colin M. Bloor, MDFrom 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.Search for more papers by this author, and Ernest Beutler, MDFrom 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.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-125-11-199612010-00005 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail 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) [1, 2]. 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 ...References1. Beutler E. Gaucher's disease. N Engl J Med. 1991; 375:1354-60. Google Scholar2. Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore). 1992; 71:337-53. Google Scholar3. Beutler E, Kay A, Saven A, Garver P, Thurston D, Dawson A, et al. Enzyme replacement therapy for Gaucher disease. Blood. 1991; 78:1183-9. Google Scholar4. Krowka MJ, Tajik AJ, Dickson ER, Wiesner RH, Cortese DA. Intrapulmonary vascular dilatations (IPVD) in liver transplant candidates. Screening by two-dimensional contrast-enhanced echocardiography. Chest. 1990; 97:1165-70. Google Scholar5. Beutler E, Demina A, Laubscher K, Garver P, Gelbart T, Balicki D, et al. The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol Dis. 1995; 21:86-108. Google Scholar6. Burrows B, Knudson RJ, Cline MG, Lebowitz MD. A reexamination of risk factors for ventilatory impairment. Am Rev Respir Dis. 1988; 138:829-36. Google Scholar7. Berger M, Haimowitz A, Van Tosh A, Berdoff RL, Goldberg E. Quantitative assessment of pulmonary hypertension in patients with tricuspid regurgitation using continuous wave Doppler ultrasound. J Am Coll Cardiol. 1985; 6:359-65. Google Scholar8. Schneider EL, Epstein CJ, Kaback MJ, Brandes D. Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. Am J Med. 1977; 63:475-80. Google Scholar9. Lee RE. The pathology of Gaucher disease. In: Desnick RJ, Gatt S, Grabowski GA, eds. Gaucher disease: A Century of Delineation and Research. New York: Liss; 1982:177-217. Google Scholar10. Roberts WC, Fredrickson DS. Gaucher's disease of the lung causing severe pulmonary hypertension with associated acute recurrent pericarditis. Circulation. 1967; 35:783-9. Google Scholar11. Theise ND, Ursell PC. Pulmonary hypertension and Gaucher's disease: logical association or mere coincidence? Am J Pediatr Hematol Oncol. 1990; 12:74-6. Google Scholar12. Lee RE, Yousem SA. The frequency and type of lung involvement in patients with Gaucher's disease [Abstract]. Lab Invest. 1988; 58:54A. Google Scholar13. Kerem E, Elstein D, Abrahamov A, Bar Ziv Y, Hadas-Halpern I, Melzer E, et al. Pulmonary function abnormalities in type I Gaucher disease. Eur Respir J. 1996; 9:340-5. Google Scholar14. Krowka MJ, Cortese DA. Hepatopulmonary syndrome: an evolving perspective in the era of liver transplantation. Hepatology. 1990; 11:138-42. Google Scholar15. Lange PA, Stoller JK. The hepatopulmonary syndrome. Ann Intern Med. 1995; 122:521-9. Google Scholar16. Pelini M, Boice D, O'Neil K, LaRocque J. Glucocerebrosidase treatment of type I Gaucher disease with severe pulmonary involvement. Ann Intern Med. 1994; 121:196-7. Google Scholar17. Edell ES, Cortese DA, Krowka MJ, Rehder K. Severe hypoxemia and liver disease. Am Rev Respir Dis. 1989; 140:1631-5. Google Scholar18. Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in α 1-antitrypsin deficiency. N Engl J Med. 1986; 314:735-9. Google Scholar Author, Article, and Disclosure InformationAffiliations: 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.Corresponding Author: 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. 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