{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T12:44:15Z","timestamp":1772628255846,"version":"3.50.1"},"reference-count":19,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,6]]},"abstract":"<jats:p>Information from 72 patients from 7 families in England and Wales confirms that hereditary pancreatitis is inherited as an autosomal dominant conditions with limited penetrance. The degree of penetrance is approximately 80%. These patients have had recurrent attacks of abdominal pain starting from childhood or young adult life. The mean age of onset in the 7 families studied was 13.6 years. There were two peaks, with maximum numbers at 5 years and 17 years. The second peak was thought to represent genetically susceptible individuals having pain brought on by alcohol rather than representing evidence of genetic heterogeneity. Five of the 7 families had members with both childhood and adult ages of onset. Only 4 patients out of 72 had life-threatening disease and in the majority of cases the attacks of pain were of nuisance value only. Hereditary pancreatitis was implicated in only 1 patient's death and this was not definite. Patients appear to get better after a period of symptoms usually as they approach middle age, or after a severe attack. In older patients alcohol, emotional upsets, and fatty food appear to precipitate attacks. Pancreatic insufficiency (5.5%), diabetes mellitus (12.5%), pseudocysts (5.5%), and haemorrhagic pleural effusion are uncommon complications. Portal vein thrombosis occurred definitely in 2 patients and was suspected in 3 others. Carcinoma of the pancreas was not found in any of 72 patients studied in detail; however, 2 members from a family not visited personally had chronic pancreatitis and malabsorption going on to carcinoma. They may have suffered from a different disease. Genetic linkage information was too slight for many definite conclusions. However, there was no suggestion of linkage with any of the markers tested.<\/jats:p>","DOI":"10.1136\/jmg.15.3.189","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"189-201","source":"Crossref","is-referenced-by-count":74,"title":["Hereditary pancreatitis in England and Wales."],"prefix":"10.1136","volume":"15","author":[{"given":"J R","family":"Sibert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1007\/BF02239206","article-title":"Elevated serum trypsin binding activity in patients with hereditary pancreatitis","volume":"13","author":"Adham, N.F.; Dyce, B.; Haverback, B.J.","year":"1968","unstructured":"Adham, N. F., Dyce, B., and Haverback, B. J. (1968). Elevated serum trypsin binding activity in patients with hereditary pancreatitis. American Journal ofDigestive Diseases, 13, 8-15.","journal-title":"American Journal ofDigestive Diseases"},{"key":"ref_2","article-title":"Les pancreatites chroniques familiales. (A propos de 14 cas operes dans une meme famille.) These pour le Doctoraten Medecine,. Universite de Nantes, Faculte mixte de medecine et de pharmacie de Nantes","author":"Bon, G.","year":"1971","unstructured":"Bon, G. (1971). Les pancreatites chroniques familiales. (A propos de 14 cas operes dans une meme famille.) These pour le Doctoraten Medecine,. Universite de Nantes, Faculte mixte de medecine et de pharmacie de Nantes."},{"key":"ref_3","first-page":"8","article-title":"Familial pancreatitis","year":"1971","unstructured":"Choudhry, V. P., Srivastava, R. N., and Ghai, 0. P. (1971). Familial pancreatitis. Indian Pediatrics, 8,466-468.","journal-title":"Indian Pediatrics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S0016-5085(52)80120-9","article-title":"Pedigree of a family with hereditary chronic relapsing pancreatitis","volume":"21","author":"Comfort, M.W.; Steinberg, A.G.","year":"1952","unstructured":"Comfort, M. W., and Steinberg, A. G. (1952). Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology, 21, 54-63.","journal-title":"Gastroenterology"},{"key":"ref_5","first-page":"527","article-title":"Pancreatite chronique familiale primitive avec ectasies canalaires","volume":"84","author":"Comet, E.; Dupon, H.; Hardy, M.; Gordeef, A.","year":"1962","unstructured":"Comet, E., Dupon, H., Hardy, M., and Gordeef, A. (1962). Pancreatite chronique familiale primitive avec ectasies canalaires. 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Report on two additional families","volume":"32","author":"Gross, J.B.; Comfort, M.W.","year":"1957","unstructured":"Gross, J. B., and Comfort, M. W. (1957). Hereditary pancreatitis. Report on two additional families. Gastroenterology, 32, 829854.","journal-title":"Gastroenterology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/9780470719268.ch14","article-title":"Further observations on the hereditary form of pancreatitis","volume-title":"CIBA Foundation Symposium. Normal and Abnormal Findings of the Exocrine Pancreas","author":"Gross, J.B.; Ulrich, J.A.; Maher, F.T.","year":"1962","unstructured":"Gross, J. B., Ulrich, J. A., and Maher, F. T. (1962). Further observations on the hereditary form of pancreatitis. In CIBA Foundation Symposium. Normal and Abnormal Findings of the Exocrine Pancreas, pp. 278-309. J. and A. Churchill, London."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1542\/peds.51.1.55","article-title":"Hereditary pancreatitis. Three new kindreds and a critical review of the literature","volume":"51","author":"Kattwinkel, I.; Lapey, A.; di Sant'Agnese; Edwards, W.A.","year":"1973","unstructured":"Kattwinkel, I., Lapey, A., di Sant'Agnese, and Edwards, W. A. (1973). Hereditary pancreatitis. Three new kindreds and a critical review of the literature. Pediatrics, 51, 55-69.","journal-title":"Pediatrics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"903","DOI":"10.7326\/0003-4819-75-6-903","article-title":"Extrahepatic portal hypertension caused by chronic pancreatitis","volume":"75","author":"Longstreth, G.F.; Newcomer, A.D.; Green, P.A.","year":"1971","unstructured":"Longstreth, G. F., Newcomer, A. D., and Green, P. A. (1971). Extrahepatic portal hypertension caused by chronic pancreatitis. Annals ofInternal Medicine, 75, 903-908.","journal-title":"Annals ofInternal Medicine"},{"issue":"229-24","key":"ref_12","first-page":"1","article-title":"Hereditary pancreatitis in a kinship associated with portal vein thrombosis","volume":"52","author":"McElroy, R.; Christiansen, P.A.","year":"1972","unstructured":"McElroy, R., and Christiansen, P. A. (1972). Hereditary pancreatitis in a kinship associated with portal vein thrombosis. American Journal ofMedicine, 52, 229-24 1.","journal-title":"American Journal ofMedicine"},{"key":"ref_13","first-page":"602","article-title":"Une nouvelle famille avec pancreatite chronique hereditaire","volume":"101","author":"Moretti, G.E.; Nussle, D.","year":"1971","unstructured":"Moretti, G. E., and Nussle, D. (1971). Une nouvelle famille avec pancreatite chronique hereditaire. 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Gut, 16,81-88."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.3.189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:52:07Z","timestamp":1760773927000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.3.189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1978,6,1]]},"published-print":{"date-parts":[[1978,6]]}},"alternative-id":["10.1136\/jmg.15.3.189"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.3.189","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,6]]}}}