A YOUNG MALE WITH ACUTE ABDOMEN: HEREDITARY ANGIOEDEMA

Authors

  • Mustajab Alam Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi Pakistan
  • Muhammad Hussain Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi Pakistan
  • Hamid Nawaz Tipu Combined Military Hospital, Lahore Pakistan
  • Muhammad Aftab Hassan Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi Pakistan
  • Usama Bin Khalid Combined Military Hospital, Dera Nawab Shah Pakistan
  • Hafiza Monaza Batool Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi Pakistan

DOI:

https://doi.org/10.55629/pakjpathol.v34i4.762

Abstract

Hereditary angioedema (HAE) is a freak, life-threatening genetic disorder caused by insufficiency or impaired function of the C1 inhibitor. HAE is difficult to diagnose due to its rarity, unusual symptoms similar to other conditions, and lack of C1 inhibitor in tertiary centers. This case is being reported due to its uncommon appearance with symptoms mostly affecting the gastrointestinal tract.

We present a case of young boy who presented with abdominal pain and dysentery. History revealed its periodic nature since puberty, only abdominal tenderness was positive on clinical examination. Blood complete picture, ESR, CRP, Stool investigations for WBCs, ova/parasites, stool culture, occult blood, Clostridium difficile toxin and antigen were also negative. CT scan of abdomen revealed edema of bowel wall and acute extensive colitis involving the ascending and transverse colon. Complement C4 levels <0.05 and very low values of C1 esterase inhibitor <0.2 led to diagnosis of HAE type I.

Keywords: Abdominal pain, Complement levels, C1 inhibitor, Hereditary angioedema

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Published

29-12-2023

How to Cite

1.
Alam M, Hussain M, Tipu HN, Hassan MA, Khalid UB, Batool HM. A YOUNG MALE WITH ACUTE ABDOMEN: HEREDITARY ANGIOEDEMA . Pak J Pathol [Internet]. 2023 Dec. 29 [cited 2024 Dec. 22];34(4):133-5. Available from: https://pakjpath.com/index.php/Pak-J-Pathol/article/view/762

Issue

Vol. 34 No. 4 (2023): PAKISTAN JOURNAL OF PATHOLOGY

Section

Case Report

License

Copyright (c) 2024 Mustajab Alam, Muhammad Hussain, Hamid Nawaz Tipu, Muhammad Aftab Hassan, Usama Bin Khalid, Hafiza Monaza Batool

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