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The natural history of hereditary pancreatitis: A national series
  1. Vinciane Rebours (vinciane.rebours{at}bjn.aphp.fr)
  1. Pôle des Maladies de l'Appareil Digestif Hôpital Beaujon, France
    1. Marie Christine Boutron-Ruault
    1. Inserm E3N Institut Gustave Roussy, France
      1. Matthieu Schnee
      1. Centre Hospitalier Départemental, La Roche sur Yon, France
        1. Claude Férec
        1. Inserm-0115, Génétique Moléculaire et Génétique Epidémiologique, Brest, France
          1. Cédric Le Maréchal
          1. Inserm-0115, Génétique Moléculaire et Génétique Epidémiologique, Brest, France
            1. Olivia Hentic
            1. Pôle des Maladies de l'Appareil Digestif Hôpital Beaujon, France
              1. Frédérique Maire
              1. Pôle des Maladies de l'Appareil Digestif Hôpital Beaujon, France
                1. Pascal Hammel
                1. Pôle des Maladies de l'Appareil Digestif Hôpital Beaujon, France
                  1. Philippe Ruszniewski
                  1. Pôle des Maladies de l'Appareil Digestif Hôpital Beaujon, France
                    1. Philippe Lévy (philippe.levy{at}bjn.aphp.fr)
                    1. Pôle des Maladies de l'Appareil Digestif Hôpital Beaujon, France

                      Abstract

                      Background and Aims: 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 pts 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 PRSS1 gene mutation, or chronic pancreatitis in at least 2 first-degree relatives, or 3 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 of the deaths.

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