Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida)

Amedeo Lonardo, Daniela Medicina, Marco Leonelli, Alberto Bagni, Francesco Callea

Research output: Contribution to journalArticlepeer-review

Abstract

Alpha-1-antitripsyn neutralizes the tissue damaging effects of proteases. Alpha-1-antitripsyn deficiency manifests with necrotizing vasculitis. Wegener's granulomatosis is a systemic necrotizing vasculitis that uncommonly affects the gut. The molecular genetics of patients with Wegener's granulomatosis of the gastrointestinal tract have never been characterized. A 63-year-old man with emphysema was admitted with a fever of unknown origin. Initially, this fever was linked to ileocolic Crohn's disease and later attributed to antineutrophil cytoplasm antibody-positive systemic vasculitis. Genetic analysis revealed that the alpha-1-antitripsyn deficiency was due to a previously unreported compound heterozygosity for two mutations (PiZ and PiMProcida). Our findings appear to support the concept that severe alpha-1-antitripsyn deficiency is implicated in the pathogenesis of the Crohn's disease-like milder intestinal manifestations belonging to the spectrum of Wegener's granulomatosis.

Original languageEnglish
Pages (from-to)1389-1392
Number of pages4
JournalEuropean Journal of Gastroenterology and Hepatology
Volume14
Issue number12
DOIs
Publication statusPublished - Dec 1 2002

Keywords

  • Alpha-1-antitrypsin deficiency
  • ANCA
  • Emphysema
  • Fever of unknown origin
  • Ileocolic Crohn's disease
  • PiM
  • PiZ
  • Renal failure
  • Systemic vasculitis
  • Wegener's granulomatosis

ASJC Scopus subject areas

  • Gastroenterology

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