Familial Emphysema
Authors: BEN V. HOLE
Journal: Annals of Internal Medicine (1965)

Article1 December 1965Familial EmphysemaBEN V. HOLE, M.D., KARLMAN WASSERMAN, PH.D., M.D.BEN V. HOLE, M.D.Search for more papers by this author, KARLMAN WASSERMAN, PH.D., M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-63-6-1009 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe possibility of hereditary predisposition to pulmonary emphysema has been entertained for at least 60 years (1), but remarkably little has been done by way of studying the contributing genetic factors. Cases of emphysema in the same family have been reported previously (1-3). However, it is difficult to understand the exact incidence of the disease within some of the families described because the total number of siblings is omitted or there is no statement regarding history of the disease in previous generations.The purpose of this communication is to report a family of eight siblings with an extraordinary incidence of...References1. WEST S: Diseases of the Organs of Respiration. C. Griffin & Co., London, 1902, p. 205. Google Scholar2. HURST A: Familial emphysema. Amer. Rev. Resp. Dis. 80: 179, 1959. MedlineGoogle Scholar3. WIMPFHEIMERSCHNEIDER FL: Familial emphysema. Amer. Rev. Resp. Dis. 83: 697, 1961. MedlineGoogle Scholar4. COMROEFORSTERDUBOISBRISCOECARLSEN JHREABWAE: The Lung. Clinical Physiology and Pulmonary Function Tests, 2nd ed. Year Book Medical Publishers, Inc., Chicago, 1962. Google Scholar5. LAENNEC RT: Emphysema of the lungs, in A Treatise on the Diseases of the Chest, 3rd ed. Thomas & George Underwood, London, 1829, p. 152. Google Scholar6. ADDISON J: The pathology of phthisis, in A Collection of the Published writings of Thomas Addison, M.D., edited by WILKS, S., DALDY, T. M. The New Syndenham Society, London, 1868, p. 62. Google Scholar7. GAENSLERLINDGREN EAI: Chronic bronchitis as an etiologic factor in obstructive emphysema. Amer. Rev. Resp. Dis. 80: 185, 1959. MedlineGoogle Scholar8. ANDERSONFERRIS DOBG: Role of tobacco smoking in the causation of chronic respiratory disease. New Eng. J. Med 267: 787, 1962. CrossrefMedlineGoogle Scholar9. CHILDSYOUNG BWJ: Genetic variance in man. Amer. J. Med. 34: 663, 1963. CrossrefMedlineGoogle Scholar10. ROBERTS JA: Multifactorial inheritance in relation to normal and abnormal human traits. Brit. Med. Bull. 17: 241, 1961. CrossrefMedlineGoogle Scholar11. MCKUSICKGOODMANDANKS VARMDM: Genetic aspects of respiratory disease. Arch. Environ. Health. (Chicago) 6: 25, 1963. CrossrefMedlineGoogle Scholar12. Report of the Advisory Committee to the Surgeon General of the Public Health Service on Smoking and Health. Public Health Service Publication, No. 1103. U. S. Government Printing Office, Washington, D. C., 1963. Google Scholar13. LOWELL FC: The relationship of allergy to emphysema. Amer. Rev. Resp. Dis. 80: 181, 1959. MedlineGoogle Scholar14. MITCHELL RS: Theories of pathogenesis of emphysema. Ibid., p. 2. Google Scholar15. BRINKMANCOATES GLEO: The effect of bronchitis, smoking, and occupation on ventilation. Amer. Rev. Resp. Dis. 87: 684, 1963. MedlineGoogle Scholar16. FERRISANDERSON BGDO: The prevalence of chronic respiratory disease in a New Hampshire town. Amer. Rev. Resp. Dis. 86: 165, 1962. MedlineGoogle Scholar17. WOODFISHMANREEMTSMABARKERDI SANT AGNESE JAAPKHGPA: A comparison of sweat chlorides and intestinal fat absorption in chronic obstructive pulmonary emphysema, fibrocystic disease of the pancreas. New Eng. J. Med. 260: 951, 1959. CrossrefMedlineGoogle Scholar18. MIELKEDURRANCE JEFY: Sweat electrolytes in familial pulmonary disease. Dis. Chest. 39: 601, 1961. CrossrefMedlineGoogle Scholar19. TOIGODIETZCRANEREISNER AAAJBD: Sweat electrolytes in chronic pulmonary disease. Ann. Intern. Med. 58: 961, 1963. LinkGoogle Scholar20. COATESBRINKMAN EOCL: Sweat chloride in patients with chronic bronchial disease and its relation to mucoviscidosis (cystic fibrosis). Amer. Rev. Resp. Dis. 87: 673, 1963. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: BEN V. HOLE, M.D.; KARLMAN WASSERMAN, PH.D., M.D.Affiliations: Palo Alto, CaliforniaFrom the Department of Medicine, Stanford University School of Medicine, Palo Alto, Calif.Requests for reprints should be addressed to Karlman Wasserman, M.D., Respiratory Function Laboratory, Department of Medicine, Stanford University School of Medicine, Palo Alto, Calif. 94304.*The authors are grateful to Dr. D. M. Pitcairn and Dr. M. S. Edwards, of the University of Oregon School of Medicine, who kindly studied this sibling in Portland for us. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byDiseases of the airwaysTen-Year Changes of Protease Inhibitors in the Sons of Patients with COPDFamily resemblance for normal pulmonary functionGenetic Influences in the Development of Emphysema in Persons with Normal Serum ProteinsFamilial prevalence of chronic obstructive pulmonary disease in a matched pair studyGenetic and Environmental Determinants of Chronic Obstructive Pulmonary DiseaseROGER K. LARSON, M.D., F.A.C.P., MARTIN L. BARMAN, M.D., FRIEDRICH KUEPPERS, M.D., H. HUGH FUDENBERG, M.D.Pulmonary emphysema and alpha1-antitrypsin deficiencyPHARMACOGENETICS IN THE DETECTION OF THE HYPERSUSCEPTIBLE WORKERPHARMACOGENETICS IN THE DETECTION OF THE HYPERSUSCEPTIBLE WORKERManagement of patients with cor pulmonale—Acute and chronicFamilial Emphysema and Alpha 1 -Antitrypsin Deficiency 1 December 1965Volume 63, Issue 6Page: 1009-1017KeywordsCystic fibrosisEmphysemaGenetic predispositionGeneticsInhalationLaboratory tests ePublished: 1 December 2008 Issue Published: 1 December 1965 PDF downloadLoading ...