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The natural history of hereditary pancreatitis: a national series.
Gut. 2009 Jan; 58(1):97-103.Gut

Abstract

BACKGROUND AND AIMS

The prevalence and natural history of hereditary pancreatitis (HP) remain poorly documented. The aims of this study were to assess genetic, epidemiological, clinical and morphological characteristics of HP in an extensive national survey.

METHODS

A cohort comprising all HP patients was constituted by contacting all gastroenterologists and paediatricians (response rate 84%) and genetics laboratories (response rate 100%) in France (60,200,000 inhabitants). Inclusion criteria were the presence of mutation in the cationic trypsingen gene (PRSS1 gene), or chronic pancreatitis in at least two first-degree relatives, or three second-degree relatives, in the absence of precipitating factors for pancreatitis.

RESULTS

78 families and 200 patients were included (181 alive, 6673 person-years, males 53%, alcoholism 5%, smoking 34%). The prevalence was 0.3/100,000 inhabitants. PRSS1 mutations were detected in 68% (R122H 78%, N29I 12%, others 10%). Penetrance was 93%. Median age at first symptom, diagnosis and date of last news, were 10 (range 1-73), 19 (1-80) and 30 (1-84) years, respectively. HP was responsible for pancreatic pain (83%), acute pancreatitis (69%), pseudocysts (23%), cholestasis (3%), pancreatic calcifications (61%), exocrine pancreatic insufficiency (34%, median age of occurrence 29 years), diabetes mellitus (26%, median age of occurrence 38 years) and pancreatic adenocarcinoma (5%, median age 55 years). No differences in clinical and morphological data according to genetic status were observed. 19 patients died, including 10 directly from HP (8 from pancreatic adenocarcinoma).

CONCLUSION

The prevalence of HP in France is at least 0.3/100,000. PRSS1 gene mutations are found in 2/3 with a 93% penetrance. Mutation type is not correlated with clinical/morphological expression. Pancreatic adenocarcinoma is the cause of nearly half the deaths.

Authors+Show Affiliations

Pôle des Maladies de l'Appareil Digestif, Service de Gastroentérologie-Pancréatologie, APHP, Hôpital Beaujon, Clichy Cedex, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18755888

Citation

Rebours, V, et al. "The Natural History of Hereditary Pancreatitis: a National Series." Gut, vol. 58, no. 1, 2009, pp. 97-103.
Rebours V, Boutron-Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut. 2009;58(1):97-103.
Rebours, V., Boutron-Ruault, M. C., Schnee, M., Férec, C., Le Maréchal, C., Hentic, O., Maire, F., Hammel, P., Ruszniewski, P., & Lévy, P. (2009). The natural history of hereditary pancreatitis: a national series. Gut, 58(1), 97-103. https://doi.org/10.1136/gut.2008.149179
Rebours V, et al. The Natural History of Hereditary Pancreatitis: a National Series. Gut. 2009;58(1):97-103. PubMed PMID: 18755888.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The natural history of hereditary pancreatitis: a national series. AU - Rebours,V, AU - Boutron-Ruault,M-C, AU - Schnee,M, AU - Férec,C, AU - Le Maréchal,C, AU - Hentic,O, AU - Maire,F, AU - Hammel,P, AU - Ruszniewski,P, AU - Lévy,P, Y1 - 2008/08/28/ PY - 2008/8/30/pubmed PY - 2009/1/17/medline PY - 2008/8/30/entrez SP - 97 EP - 103 JF - Gut JO - Gut VL - 58 IS - 1 N2 - BACKGROUND AND AIMS: The prevalence and natural history of hereditary pancreatitis (HP) remain poorly documented. The aims of this study were to assess genetic, epidemiological, clinical and morphological characteristics of HP in an extensive national survey. METHODS: A cohort comprising all HP patients was constituted by contacting all gastroenterologists and paediatricians (response rate 84%) and genetics laboratories (response rate 100%) in France (60,200,000 inhabitants). Inclusion criteria were the presence of mutation in the cationic trypsingen gene (PRSS1 gene), or chronic pancreatitis in at least two first-degree relatives, or three second-degree relatives, in the absence of precipitating factors for pancreatitis. RESULTS: 78 families and 200 patients were included (181 alive, 6673 person-years, males 53%, alcoholism 5%, smoking 34%). The prevalence was 0.3/100,000 inhabitants. PRSS1 mutations were detected in 68% (R122H 78%, N29I 12%, others 10%). Penetrance was 93%. Median age at first symptom, diagnosis and date of last news, were 10 (range 1-73), 19 (1-80) and 30 (1-84) years, respectively. HP was responsible for pancreatic pain (83%), acute pancreatitis (69%), pseudocysts (23%), cholestasis (3%), pancreatic calcifications (61%), exocrine pancreatic insufficiency (34%, median age of occurrence 29 years), diabetes mellitus (26%, median age of occurrence 38 years) and pancreatic adenocarcinoma (5%, median age 55 years). No differences in clinical and morphological data according to genetic status were observed. 19 patients died, including 10 directly from HP (8 from pancreatic adenocarcinoma). CONCLUSION: The prevalence of HP in France is at least 0.3/100,000. PRSS1 gene mutations are found in 2/3 with a 93% penetrance. Mutation type is not correlated with clinical/morphological expression. Pancreatic adenocarcinoma is the cause of nearly half the deaths. SN - 1468-3288 UR - https://www.unboundmedicine.com/medline/citation/18755888/The_natural_history_of_hereditary_pancreatitis:_a_national_series_ L2 - https://gut.bmj.com/lookup/pmidlookup?view=long&pmid=18755888 DB - PRIME DP - Unbound Medicine ER -