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Hereditary pancreatitis in childhood: course of disease and complications

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Summary

Background

Hereditary pancreatitis is rare. Pain therapy for juvenile symptom onset, child development and the risk of pancreatic carcinoma in adulthood must be considered.

Patients, material and methods

Data from a cohort of 11 patients with disease onset in childhood (< 16 years) were analyzed retrospectively. The gene encoding cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes were investigated as genetic factors. Treatment concept and complications were registered. Prognosis, treatment success and quality of life were objectified using the chronic pancreatitis prognosis score and a standardized questionnaire (KIDSCREEN-10 index).

Results

The mean age of symptom onset was 7.5 ±4.2 years. The PRSS1 and SPINK1 mutations each occurred with 36.4%, 3 patients had a pancreas divisum and 2 a long common channel. The course of pancreatitis was obstructive in 90.9%. Exocrine pancreatic insufficiency occurred in seven patients so far (mean age 12.5 years). Stenting was performed in 72.7% and 18.2% needed pancreatic surgery. Currently the chronic prognosis score is on average 7.5 points, pain on numerical rating scale 0 (no pain). The mean KIDSCREEN‑T score of 66.9 confirms a very good quality of life.

Conclusion

Patients with genetically caused chronic pancreatitis are rare. Their care ranges from pain therapy in childhood and adolescence to questions concerning family planning and pancreatic cancer prevention from mid-adulthood onward. The disease is challenging for the interdisciplinary cooperation. We found the step-up strategy to be a good option for pain therapy. A national registry monitored by scientific societies with active recruitment for screening examinations will further improve and ensure care in the long term.

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Acknowledgements

Sincere thanks are owed to Wolfgang Pumberger, the former head of the department of pediatric surgery at the Kepler University Hospital in Linz, for the development of the step-up concept for the treatment of hereditary pancreatitis in children.

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Authors and Affiliations

  1. Department of Gastroenterology and Hepatology, Ordensklinikum Linz—Hospital of the Sisters of Charity, Linz, Austria

    Regina Prommer & Melanie Kienbauer

  2. Department of Pediatric Surgery, Kepler University Hospital Linz, Med Campus IV, Linz, Austria

    Simon Kargl

  3. Internal Department of Gastroenterology and Hepatology, Metabolic and Nutritional Medicine, Endocrinology, Ordensklinikum Linz—Hospital of the Sisters of Charity, Seilerstätte 4, 4010, Linz, Austria

    Rainer Schöfl

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  1. Regina Prommer
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  2. Melanie Kienbauer
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Contributions

This draft of the manuscript was written by Regina Prommer and Rainer Schöfl commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Rainer Schöfl.

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Conflict of interest

R. Prommer, M. Kienbauer, S. Kargl and R. Schöfl declare that they have no competing interests.

Ethical standards

All procedures performed in studies involving human participants or on human tissue were in accordance with the ethical standards of the institutional and/or national research committee and with the 1975 Helsinki declaration and its later amendments or comparable ethical standards. This analysis of our cohort of patients with HP was approved by the ethics committee of the Land Oberösterreich (State of Upper Austria 1124/2019, 22 July 2019) and by the ethics committee of the hospitals of the Sisters of Charity and the Brothers of Charity Linz (40/19, 29 July 2019). Informed consent was obtained from all patients who participated in the last follow-up investigation (prospective part) or their legal representatives. According to the ethics committees, no declaration of consent was required for purely retrospective data analysis.

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This study is based on the master’s thesis (master’s course in human medicine) of Regina Prommer.

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Prommer, R., Kienbauer, M., Kargl, S. et al. Hereditary pancreatitis in childhood: course of disease and complications. Wien Klin Wochenschr 133, 669–673 (2021). https://doi.org/10.1007/s00508-021-01869-0

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  • DOI: https://doi.org/10.1007/s00508-021-01869-0

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