Summary
It is generally believed that idiopathic haemochromatosis is exclusively a disease of middle age, affecting primarily men. We describe here four cases of idiopathic haemochromatosis having onset of symptoms before or around the age of 20 years. Other similar cases have previously been reported. In this juvenile form, males and females appear to be equally affected. These subjects may have a history of unexplained abdominal pain, present with hypogonadotropic hypogonadism, and, unless proper treatment is started, die early because of cardiac dysfunction. In this regard, their clinical course is very similar to that of well-transfused thalassaemia major. Thus, early diagnosis is even more important in the juvenile form than in the adult form of idiopathic haemochromatosis. We suggest that evaluation of body iron stores should be performed as a screening procedure in young subjects with hypogonadotropic hypogonadism and/or cardiac dysfunction.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bothwell TH, Alper T (1951) The cardiac complications of haemochromatosis. Report of a case with a review of the literature. Sth Afr J Clin Sci 2:226–238
Bothwell TH, Charlton RW, Cook JD, Finch CA (1979) Iron metabolism in man. Blackwell Scientific Publications Oxford
Brand DL, Ray JG Jr, Hare DB, Kayhoe DE, McClelland JD (1970) Preliminary trials toward standardization of leukocyte typing. In: Histocompatibility Testing 1970. Munksgaard, Copenhagen, pp 357–361
Buja LM, Roberts WC (1971) Iron in the heart. Etiology and clinical significance. Am J Med 51:209–221
Case Records of the Massachusetts General Hospital (1983) Case 25-1983. N Engl J Med 308:1521–1529
Charlton RW, Abrahams C, Bothwell TH (1967) Idiopathic hemochromatosis in young subjects. Arch Pathol 83:132–140
Cook JD, Finch CA (1980) Ferrokinetic measurements. In: Cook JD (ed) Iron. Churchill Livingstone, New York, pp 134–147
Fairbanks VF, Fahey JL, Beutler E (1971) Clinical disorders of iron metabolism, 2nd edn, Grune & Stratton, New York
Felts JH, Nelson JR, Herndon CR, Spurr CL (1967) Hemochromatosis in two young sisters. Case studies and a family survey. Ann Intern Med 67:117–123
Finch SC, Finch CA (1955) Idiopathic hemochromatosis, an iron storage disease. Iron metabolism in hemochromatosis. Medicine (Baltimore) 34:381–430
Gatter KC, Brown G, Trowbridge IS, Woolston R-E, Mason DY (1983) Transferrin receptors in human tissues: their distribution and possible clinical relevance. J Clin Pathol 36:539–545
Kletsky OA, Costin G, Harrss RP, Bernstein G, March CM, Mishell DR Jr (1979) Gonadotropin insufficiency in patients with thalassemia major. J Clin Endocrinol Metab 48:901–905
Kravitz K, Skolnick M, Cannings C, Carmelli D, Baty B, Amos DB, Johnsson A, Mendell N, Edwards C, Cartwright G (1979) Genetic linkage between hereditary hemochromatosis and HLA. Am J Hum Genet 31:601–619
Lamon JM, Marynick SP, Roseblatt R, Donnelly S (1979) Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology 76:178–183
Milder MS, Cook JD, Stray S, Finch CA (1980) Idiopathic hemochromatosis, an interim report. Medicine (Baltimore) 59:34–49
Perkins KW, McInnes IWS, Blackburn CRB, Beal RW (1965) Idiopathic hemochromatosis in children. Report of a family. Am J Med 39:118–126
Powell LW, Halliday JW (1980) Idiopathic haemochromatosis. In: Jacobs A, Worwood M (eds) Iron in biochemistry and medicine, II. Academic Press, London, pp 461–498
Sheldon JH (1935) Haemochromatosis. Oxford University Press, London
Simon M, Bourel M, Genetet B, Fauchet R (1977) Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 297: 1017–1021
Spitz IM, Hirsch HJ, Trestion S (1983) The prolactine response to thyrotropin-releasing hormone differentiates isolated gonadotropin deficiency from delayed puberty. N Engl J Med 308: 575–579
Stefanelli M, Barosi G, Cazzola M (1982) Iron kinetics. In: Cramp DG (ed) Quantitative approaches to metabolism. John Wiley & Sons, Chichester, pp 143–183
Svejgaard A, Platz P, Ryder LP (1983) HLA and disease 1982 — A survey. Immunol Rev 70:193–218
Weatherall DJ, Clegg JB (1981) The thalassaemia syndromes, 3rd edn. Blackwell Scientific Publications Oxford
Werner EE, Kaltwasser JP, Bechstein P-B (1978) Untersuchungen zur Regulation des Eisenhaushalts. In: Oeff K, Schmidt HAE (eds) Nuclearmedizin in Biokybernetik, Band II. Medico-Informationsdienste, Berlin, pp 122–125
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cazzola, M., Ascari, E., Barosi, G. et al. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 65, 149–154 (1983). https://doi.org/10.1007/BF00286653
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00286653