[Hereditary pancreatitis]

Area of Science:

• Gastroenterology
• Genetics
• Endocrinology

Background:

• Recurrent acute pancreatitis (RAP) poses a significant clinical challenge, often lacking identifiable causes.
• Familial aggregation of RAP suggests a potential genetic component.
• Diabetes mellitus is a known comorbidity and potential consequence of recurrent pancreatitis.

Observation:

• Three siblings (one female, two male) presented with recurrent necrotic acute pancreatitis, with initial episodes around age 35.
• All affected siblings exhibited high serum triglyceride levels upon admission, unrelated to diagnosed lipid disorders.
• Two siblings have insulin-dependent diabetes mellitus.
• Two siblings experienced recurrent abdominal pain episodes without biochemical or imaging evidence of acute pancreatitis in the past year.

Findings:

• The absence of common etiological factors (gallstones, alcohol, drugs, lipid disorders) points towards an unusual cause for RAP in this family.
• The familial clustering and presentation at a similar age suggest a possible hereditary pancreatitis syndrome.
• Elevated triglycerides, while noted, may be a consequence rather than the primary cause, given the lack of a pre-existing lipid disorder.

Implications:

• This case series highlights the importance of considering genetic factors in unexplained recurrent acute pancreatitis.
• Further investigation into familial pancreatitis syndromes is warranted to understand the underlying mechanisms.
• Early identification and management of potential genetic predispositions could improve patient outcomes and prevent complications like diabetes mellitus.