Hereditary angioedema and gastrointestinal complications: Case report

Journal Title: Medpulse International Journal of Microbiology - Year 2019, Vol 9, Issue 1

Abstract

Background: Hereditary angioedema (HAE) caused by C1-esterase inhibitor(C1-INH) deficiency is an autosomal dominant disease resulting from mutation in the C1-inhibitor gene. In classic HAE, abdominal attacks are mostly characterized by pain, vomiting and diarrhea. Case presentation: A 34 year old female presented with a 12 years history of episodic severe cramping abdominal pain, associated with vomiting and diarrhea. Each episode lasted for a few days and would resolve spontaneously. All the laboratory investigations performed during the episodes were normal except C4 level (< 8 mg/dl) and C 1 esterase inhibitor functional activity (5%) and normal C1 inhibitor level (0.41 G/L) supporting diagnosis type II HAE. Discussion: Hereditary angioedema is a rare genetic disorder. Gastrointestinal tract involvement is an important feature and one of the most common in HAE. Patients suspected of having angioedema should be screened by measuring C4 levels which are typically low except between episodic phases. If the C4 level is decreased, antigenic and functional levels of C1-INH should be measured to confirm the diagnosis. Conclusion: In summary, the diagnosis of angioedema should be considered in any patient with recurrent abdominal pain of obscure origin. There may not be any abnormal findings between attacks, therefore a comprehensive history and physical examination is of utmost importance

Authors and Affiliations

V V Chincholkar, V J Dhole

Keywords

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  • EP ID EP486234
  • DOI 10.26611/1008911
  • Views 79
  • Downloads 0

How To Cite

V V Chincholkar, V J Dhole (2019). Hereditary angioedema and gastrointestinal complications: Case report. Medpulse International Journal of Microbiology, 9(1), 1-4. https://europub.co.uk/articles/-A-486234