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Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach

Journal of Gastrointestinal Cancer volume 45, pages 22–26 (2014)Cite this article

Introduction

Hereditary pancreatitis (HP) is a rare, heterogeneous familial disease and should be suspected in any patient who has suffered at least two attacks of acute pancreatitis for which there is no underlying cause and unexplained chronic pancreatitis with a family history in a first- or second-degree relative. Genetic factors have been implied in cases of familial chronic pancreatitis. The most common PRSS1 mutations worldwide are the R122H and N29I variants.

Clinical Features

HP usually appears with an acute, a recurrent acute, and a chronic phase, referring to the inflammation of the pancreas and the symptoms’ onset and duration. The clinical features of acute pancreatitis begin in childhood and last less than 6 months. HP carries a 50–70-fold increased risk of pancreatic cancer within 7–30 years of disease onset. HP diagnosis is defined by the presence of a detected cationic trypsinogen gene mutation (with or without clinical or radiological manifestations of chronic pancreatitis) or when the patient’s family satisfies the requirements of the EUROPAC.

Treatment

With regard to the therapeutic approach, pancreatic enzyme replacement therapy and analgesics are offered to control pain. In addition, endoscopic and surgical intersections are reserved for all relevant complications. Unfortunately, surgical removal of affected pancreatic tissue does not necessarily guarantee the patient’s long-term survival. Furthermore, the prognostic factors and the efficacy of extended resection remain controversial.

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Conflict of Interest

The authors declare that they have no conflict of interest.

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Affiliations

  1. 4th Department of Surgery, ATTIKON University Hospital, Athens University Medical School, 1 Rimini str., Chaidari, 124 62, Athens, Greece

    Aikaterini Mastoraki, Adelais Tzortzopoulou, Smaragda Tsela, Nikolaos Danias, George Sakorafas, Vasilios Smyrniotis & Nikolaos Arkadopoulos

  2. Gr. Lambraki 112-114, Piraeus, Athens, Greece

    Aikaterini Mastoraki

Authors
  1. Aikaterini Mastoraki
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  2. Adelais Tzortzopoulou
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Correspondence to Aikaterini Mastoraki.

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Mastoraki, A., Tzortzopoulou, A., Tsela, S. et al. Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach. J Gastrointest Canc 45, 22–26 (2014). https://doi.org/10.1007/s12029-013-9559-6

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  • DOI: https://doi.org/10.1007/s12029-013-9559-6

Keywords

  • Hereditary pancreatitis
  • Familial clustering
  • Specific mutations
  • Therapeutic management