Article    Table of Contents                    Full Text of this article Free    Figures/Tables List  Services    Send comment/rapid response letter    Notify a friend about this article    Alert me when this article is cited    Add to Personal Archive    Download to Citation Manager    ACP Search                            Get Permissions  Google Scholar    Search for Related Content  PubMed Articles in PubMed by Author:    Moirand, R.    Deugnier, Y.    Related Articles in PubMed    PubMed Citation    PubMed

ARTICLE

Clinical Features of Genetic Hemochromatosis in Women Compared with Men

Romain Moirand, MD, PhD; Paul C. Adams, MD; Valerie Bicheler, MD; Pierre Brissot, MD; and Yves Deugnier, MD

15 July 1997 | Volume 127 Issue 2 | Pages 105-110

Background: The clinical expression of hemochromatosis is presumed to be less frequent and less severe in women than in men because of the iron loss associated with menses and pregnancy, but this hypothesis has not been validated.

Objective: To compare the clinical features of women who have genetic hemochromatosis with those of men who have the disease.

Design: Cross-sectional study.

Setting: Tertiary referral centers for hemochromatosis in France and Canada.

Patients: 176 women and 176 men with hemochromatosis, matched for year of birth.

Measurements: Age at presentation, clinical symptoms, transferrin saturation, serum ferritin level, hepatic iron concentration, and hepatic iron index.

Results: Hepatic iron concentration and hepatic iron index were similar in men and women. Women had lower serum ferritin levels than men did (911 µg/L compared with 1911 µg/L; mean difference, 1000 µg/L [95% CI, 669 µg/L to 1331 µg/L]) and less iron removed by venesections (5.5 g and 8.6 g; mean difference, 3.1 g [CI, 1.5 g to 4.8 g]). Compared with women, men had a higher incidence of cirrhosis (25.6% and 13.8%; mean difference, 11.8 percentage points [CI, 3.2 to 20.4 percentage points]) and diabetes (15.9% and 7.4%; mean difference, 8.5 percentage points [CI, 1.9 to 5.2 percentage points]). Compared with men, women had a higher incidence of fatigue (64.8% and 42%; mean difference, –22.8 percentage points [CI, –32.9 to –12.5 percentage points]) and pigmentation (48% and 44.9%; mean difference, –13.1 percentage points [CI, –23.4 to 2.7 percentage points]). Hepatic iron concentration and hepatic iron index were greater in women in whom menstruation had stopped before 50 years of age. Serum ferritin levels and transferrin saturation were normal in 6.2% of women and 0% of men.

Conclusions: Women with genetic hemochromatosis can have full phenotypic expression of the disease, including cirrhosis. Recognizing the nonspecific nature of presenting symptoms in women is essential for early diagnosis and treatment.

Author and Article Information

From Clinique des Maladies du Foie et INSERM Unit 49, Hopital Pontchaillou. Rennes, France; and London Health Sciences Centre, University of Western Ontario, London, Ontario, Canada.
Note: Drs. Moirand and Adams contributed equally to this manuscript.
Acknowledgments: The authors thank Leslie Valberg and Ann Kertesz for assisting with the collection of the Canadian data and Larry Stitt for statistical analysis.
Grant Support: By the Fondation pour la Recherche Medicale, the Faculte de Medecine de Rennes, the Association pour la Recherche contre le Cancer, and the Societe Nationale Francaise de Gastro-Enterologic. Dr. Adams is the recipient of a Medical Research Council of Canada-Centre National de la Recherche Scientifique International Scientific Exchange Award, a Detweiler Fellowship of the Royal College of Physicians and Surgeons of Canada, and a grant from the Physician's Services Incorporated Foundation of Ontario.
Requests for Reprints: Yves Deugnier, MD, Clinique des Maladies du Foie, Hopital Pontchaillou, 35033 Rennes. France.
Current Author Addresses: Drs. Moirand, Bicheler, Brissot, and Deugnier: Clinique des Maladies du Foie, Hopital Pontchaillou, 35033 Rennes. France.

This article has been cited by other articles:

				M. Csete Gender Issues in Transplantation Anesth. Analg., July 1, 2008; 107(1): 232 - 238. [Abstract] [Full Text] [PDF]

				M. J. Wood, L. W. Powell, and G. A. Ramm Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis Blood, May 1, 2008; 111(9): 4456 - 4462. [Abstract] [Full Text] [PDF]

				F. Stickel, C. H. Osterreicher, C. Datz, P. Ferenci, M. Wolfel, W. Norgauer, M. R. Kraus, F. Wrba, C. Hellerbrand, and D. Schuppan Prediction of Progression to Cirrhosis by a Glutathione S-Transferase P1 Polymorphism in Subjects With Hereditary Hemochromatosis Arch Intern Med, September 12, 2005; 165(16): 1835 - 1840. [Abstract] [Full Text] [PDF]

				E Ryan, V Byrnes, B Coughlan, A-M Flanagan, S Barrett, J C O'Keane, and J Crowe Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration? Gut, July 1, 2002; 51(1): 108 - 112. [Abstract] [Full Text] [PDF]

				E. H. Hanson, G. Imperatore, and W. Burke HFE Gene and Hereditary Hemochromatosis: A HuGE Review Am. J. Epidemiol., August 1, 2001; 154(3): 193 - 206. [Abstract] [Full Text] [PDF]

				E. Lyon and E. L. Frank Hereditary Hemochromatosis Since Discovery of the HFE Gene Clin. Chem., July 1, 2001; 47(7): 1147 - 1156. [Abstract] [Full Text] [PDF]

				A. Roetto, A. Totaro, A. Piperno, A. Piga, F. Longo, G. Garozzo, A. Cali, M. De Gobbi, P. Gasparini, and C. Camaschella New mutations inactivating transferrin receptor 2 in hemochromatosis type 3 Blood, May 1, 2001; 97(9): 2555 - 2560. [Abstract] [Full Text] [PDF]

				Z. J. Bulaj, R. S. Ajioka, J. D. Phillips, B. A. LaSalle, L. B. Jorde, L. M. Griffen, C. Q. Edwards, and J. P. Kushner Disease-Related Conditions in Relatives of Patients with Hemochromatosis N. Engl. J. Med., November 23, 2000; 343(21): 1529 - 1535. [Abstract] [Full Text] [PDF]

				G. M. Brittenham, G. Weiss, P. Brissot, F. Laine, A. Guillygomarc'h, D. Guyader, R. Moirand, and Y. Deugnier Clinical Consequences of New Insights in the Pathophysiology of Disorders of Iron and Heme Metabolism Hematology, January 1, 2000; 2000(1): 39 - 50. [Abstract] [Full Text] [PDF]

				C. Mura, O. Raguenes, and C. Ferec HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis Blood, April 15, 1999; 93(8): 2502 - 2505. [Abstract] [Full Text] [PDF]

				L. W. Powell, D. K. George, S. M. McDonnell, and K. V. Kowdley Diagnosis of Hemochromatosis Ann Intern Med, December 1, 1998; 129(11_Part_2): 925 - 931. [Abstract] [Full Text]

				J. C. Barton, S. M. McDonnell, P. C. Adams, P. Brissot, L. W. Powell, C. Q. Edwards, J. D. Cook, K. V. Kowdley, and The Hemochromatosis Management Working Group* Management of Hemochromatosis Ann Intern Med, December 1, 1998; 129(11_Part_2): 932 - 939. [Abstract] [Full Text]

				Q. Yang, S. M. McDonnell, M. J. Khoury, J. Cono, and R. G. Parrish Hemochromatosis-Associated Mortality in the United States from 1979 to 1992: An Analysis of Multiple-Cause Mortality Data Ann Intern Med, December 1, 1998; 129(11_Part_2): 946 - 953. [Abstract] [Full Text]

				S. M. McDonnell, P. D. Phatak, V. Felitti, A. Hover, and G. D. McLaren Screening for Hemochromatosis in Primary Care Settings Ann Intern Med, December 1, 1998; 129(11_Part_2): 962 - 970. [Abstract] [Full Text]

				S. M. McDonnell, D. L. Witte, M. E. Cogswell, and R. McIntyre Strategies To Increase Detection of Hemochromatosis Ann Intern Med, December 1, 1998; 129(11_Part_2): 987 - 992. [Abstract] [Full Text]

				W. Burke, E. Thomson, M. J. Khoury, S. M. McDonnell, N. Press, P. C. Adams, J. C. Barton, E. Beutler, G. Brittenham, A. Buchanan, et al. Hereditary Hemochromatosis: Gene Discovery and Its Implications for Population-Based Screening JAMA, July 8, 1998; 280(2): 172 - 178. [Abstract] [Full Text] [PDF]