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Nationwide survey of hereditary pancreatitis in Japan

  • Original Article—Liver, Pancreas, and Biliary Tract
  • Published:
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Abstract

Background

Hereditary pancreatitis (HP) is a rare cause of chronic pancreatitis. We here report a nationwide survey to clarify the epidemiological, genetic, and clinical features of HP in Japan.

Methods

Target subjects were patients with HP and their family members who had visited selected hospitals between 2005 and 2014. This study consisted of two-stage surveys; patients with HP were identified by the first questionnaire and their clinical features were assessed by the second questionnaire.

Results

Two hundred seventy-one patients (153 males and 118 females) in 100 families diagnosed based on the Japanese criteria or 231 patients (131 males and 100 females) patients in 80 families based on the EUROPAC criteria were reported. Of the families undertaking genetic tests, 41% had the PRSS1 mutations (p.R122H 33%, p.N29I 8%) and 36% had the SPINK1 mutations (p.N34S 22%, c.194+2T>C 14%, p.P45S 1%). The mean age at symptom onset was 17.8 years. The cumulative rates of pancreatic exocrine insufficiency and diabetes mellitus were 16.1 and 5.5% at 20 years old, and 45.3 and 28.2% at 40 years, respectively. Forty-four percent of the patients underwent endoscopic treatment and/or surgery. The cumulative rate of pancreatic cancer diagnosis was 2.8% at 40 years old, 10.8% at 60 years, and 22.8% at 70 years.

Conclusions

HP was characterized by early disease onset, frequent development of pancreatic exocrine insufficiency and diabetes mellitus, requirement of endoscopic treatment and/or surgery, and increased risk of pancreatic cancer. PRSS1 and SPINK1 mutations serve as genetic background for HP in Japan.

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Abbreviations

CI:

Confidence interval

CP:

Chronic pancreatitis

DM:

Diabetes mellitus

HP:

Hereditary pancreatitis

EUROPAC:

European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer

PC:

Pancreatic cancer

PEI:

Pancreatic exocrine insufficiency

RAP:

Recurrent acute pancreatitis

SD:

Standard deviation

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Acknowledgements

The authors are grateful to the doctors who replied to the questionnaires. This work was supported in part by JSPS KAKENHI Grant Number 16K15421 (to A Masamune), the Smoking Research Foundation (to A Masamune), and by the Ministry of Health, Labour, and Welfare of Japan (to Y Takeyama and M Nio).

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Authors and Affiliations

  1. Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan

    Atsushi Masamune, Kazuhiro Kikuta, Shin Hamada, Eriko Nakano, Kiyoshi Kume & Tooru Shimosegawa

  2. Department of Pediatric Hepatology and Gastroenterology, Eastern Yokohama Hospital, Yokohama, Japan

    Ayano Inui

  3. Department of Pediatrics, Juntendo University, Tokyo, Japan

    Toshiaki Shimizu

  4. Department of Surgery, Faculty of Medicine, Kindai University, Osaka, Japan

    Yoshifumi Takeyama

  5. Department of Pediatric Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan

    Masaki Nio

Authors
  1. Atsushi Masamune
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  2. Kazuhiro Kikuta
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  3. Shin Hamada
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  4. Eriko Nakano
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  5. Kiyoshi Kume
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  6. Ayano Inui
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  7. Toshiaki Shimizu
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  8. Yoshifumi Takeyama
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  9. Masaki Nio
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  10. Tooru Shimosegawa
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Correspondence to Atsushi Masamune.

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Masamune, A., Kikuta, K., Hamada, S. et al. Nationwide survey of hereditary pancreatitis in Japan. J Gastroenterol 53, 152–160 (2018). https://doi.org/10.1007/s00535-017-1388-0

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  • DOI: https://doi.org/10.1007/s00535-017-1388-0

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