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[Two cases of C1INH deficiency with paroxysmal abdominal pain]

Kazuto Takamura1, Keiko Arai, Naoya Otsu

  • 1Department of Internal Medicine, Fukushima Co-op Hospital.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-Enterology
|June 6, 2007
PubMed

Insights

C1 inhibitor deficiency (C1INH deficiency) can cause long-term abdominal pain in young adults. Diagnosing this rare condition is crucial for effective treatment of recurrent gastrointestinal symptoms.

Area of Science:

  • Immunology
  • Gastroenterology
  • Rare Diseases

Background:

  • Hereditary angioedema is associated with C1 inhibitor deficiency.
  • Abdominal pain is an uncommon presentation of C1 inhibitor deficiency.

Observation:

  • Two young adults presented with chronic, severe paroxysmal abdominal pain.
  • Initial diagnostic workup, including imaging, revealed intestinal wall thickening and ascites, complicating diagnosis.

Findings:

  • Serum C4 levels and C1 inhibitor functional activity were decreased in both patients.
  • These biochemical markers confirmed the diagnosis of C1 inhibitor deficiency.

Implications:

  • C1 inhibitor deficiency should be considered in the differential diagnosis of young patients with unexplained recurrent abdominal pain.
  • Early diagnosis of C1 inhibitor deficiency can prevent diagnostic delays and guide appropriate management.
  • This case series highlights the gastrointestinal manifestations of C1 inhibitor deficiency.

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