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[Hereditary pancreatitis]

M M das Neves1, C V Oliveira, J M Chebli

  • 1Disciplina de Gastroenterologia Clínica da Escola Paulista de Medicina, São Paulo.

Revista Da Associacao Medica Brasileira (1992)
|October 1, 1994
PubMed
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Hereditary pancreatitis (HP) is a rare genetic disorder causing chronic pancreatitis, often presenting in childhood. Early diagnosis through familial screening is crucial, even with atypical symptoms like malnutrition.

Area of Science:

  • Gastroenterology
  • Genetics
  • Internal Medicine

Background:

  • Hereditary pancreatitis (HP) is an uncommon genetic disorder predisposing individuals to chronic pancreatitis.
  • The typical presentation involves recurrent abdominal pain starting in childhood or adolescence.

Observation:

  • A case of hereditary pancreatitis presented atypically in a non-alcoholic patient with steatorrhea and malnutrition, but no prior abdominal pain.
  • Diagnostic evaluation confirmed severe chronic pancreatitis.
  • Two close relatives were identified with early-onset calcifying pancreatitis.

Findings:

  • Hereditary pancreatitis can manifest with non-classical symptoms, including malnutrition and steatorrhea.
  • A family history of early-onset calcifying pancreatitis was noted in the affected individual's relatives.

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  • The case highlights the importance of considering HP in differential diagnoses.

    • Implications:

    • Hereditary pancreatitis should be considered in the differential diagnosis of chronic pancreatitis, especially in younger individuals.
    • Routine familial screening is recommended for suspected cases of hereditary pancreatitis.
    • Early identification can facilitate timely management and genetic counseling.