Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
1994; American College of Physicians; Volume: 120; Issue: 2 Linguagem: Inglês
10.7326/0003-4819-120-2-199401150-00006
ISSN1539-3704
Autores Tópico(s)Peripheral Neuropathies and Disorders
ResumoBrief Reports15 January 1994Liver Transplantation as a Treatment for Familial Amyloidotic PolyneuropathyMartha Skinner, MD, W. David Lewis, MD, Lee Anna Jones, MD, Jessica Kasirsky, BA, Kelly Kane, BA, Shyr-Te Ju, PhD, Roger Jenkins, MD, Rodney H. Falk, MD, Robert W. Simms, MD, and Alan S. Cohen, MDMartha Skinner, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., W. David Lewis, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Lee Anna Jones, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Jessica Kasirsky, BAFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Kelly Kane, BAFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Shyr-Te Ju, PhDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Roger Jenkins, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Rodney H. Falk, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., Robert W. Simms, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts., and Alan S. Cohen, MDFrom the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-120-2-199401150-00006 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail No definitive treatment exists for familial amyloidotic polyneuropathy (FAP), an autosomal dominant disease associated with a mutant form of the protein transthyretin (prealbumin) [1]. Symptoms usually begin in middle life with peripheral neuropathy, autonomic dysfunction, cardiomyopathy, vitreous opacities, and occasionally renal failure. Death results from cardiomyopathy, malnutrition, or complications of autonomic neuropathy about 10 years after the onset of disease.Treatment of FAP has been limited to supportive measures including cardiac pacemakers, dialysis, parenteral nutrition, and physical therapy. In 1990, investigators in Sweden proposed liver transplantation as a treatment to remove the major source of mutant transthyretin production. Since then, ...References1. Benson MD, Wallace MR. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 1989:2439-60. Google Scholar2. Holmgren G, Ericzon BG, Groth CG, Steen L, Suhr O, Andersen O, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet. 1993; 341: 1113-6. Google Scholar3. Ewing DJ, Clarke BF. Diagnosis and management of diabetic autonomic neuropathy. Brit Med J. 1982; 285:916-8. Google Scholar4. Cohen AS, Skinner M, Anderson J, Simms RW. Hereditary Greek amyloidosis: a study of six families. In: Costa PP, de Freitas AF, Saraiva MM, eds. Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders. Arquivos de Medicina, Porto; 1990: 25-8. Google Scholar5. Skare JC, Milunsky JM, Milunsky A, Skare IB, Cohen AS, Skinner M. A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet.1991; 39:6-12. Google Scholar6. Altland K, Banzhoff A. Separation by hybrid isoelectric focusing of normal human plasma transthyretin (prealbumin) and a variant with a methionine for valine substitution associated with familial amyloidotic polyneuropathy. Electrophoresis. 1986; 7:529-33. Google Scholar Author, Article, and Disclosure InformationAffiliations: From the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts.Corresponding Author: Martha Skinner, MD, Arthritis Center, Boston University School of Medicine, 71 East Concord Street, Boston, MA 02118.Acknowledgments: The authors thank Drs. Tsuranobu Shirahama and Orville Rodgers for help with the biopsy material and Ms. Barbara Jarvis for secretarial assistance.Grant Support: Supported by grants AR 40414, AR 20613, and RR 533 from the National Institutes of Health; grant IM 676 from the American Cancer Society; and a grant from the Arthritis Foundation. 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variant protein by replacement of its normal proteinThe Systemic AmyloidosesLONG-TERM RESULTS OF LIVER TRANSPLANTATION IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY TYPE IPROGRESSION OF VENTRICULAR WALL THICKENING AFTER LIVER TRANSPLANTATION FOR FAMILIAL AMYLOIDOSIS1Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black AmericansRepercusión cardíaca de la amiloidosis y de la hemocromatosisIodine-123 Metaiodobenzylguanidine Scintigraphic Assessment of Myocardial Sympathetic Innervation in Patients With Familial Amyloid PolyneuropathyPartial liver transplantation from living donors in familial amyloid polyneuropathyFamilial amyloidotic polyneuropathy (FAP) = cardiac and circulatory function during anesthesia for liver transplantationA Dutch kindred with familial amyloidotic polyneuropathy associated with the trans thy retin Cys 114 mutantA 58-Year-Old Man With Shortness of Breath, Ascites, and Leg EdemaPeripheral Nerve AmyloidosisTransthyretin amyloidosisTreatment of amyloidosisAmyloidosisEffect of liver transplantation on autonomic dysfunction in familial amyloidotic polyneuropathy type IEditorial Liver transplantation for familial amyloidotic polyneuropathy: A potentially curative treatment 15 January 1994Volume 120, Issue 2Page: 133-134KeywordsCardiomyopathiesDiarrheaLiver transplantationNeuropathyOrthostasisPacemakersPeripheral neuropathySerum proteinsSurgeryTransplantation Issue Published: 15 January 1994 Copyright & PermissionsCopyright © 1994 by American College of Physicians. 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