A YOUNG MALE WITH ACUTE ABDOMEN: HEREDITARY ANGIOEDEMA
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 r...
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Veröffentlicht in: | Pakistan journal of pathology : a journal of the Pakistan Association of Pathologists. 2023-12, Vol.34 (4), p.133-135 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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 |
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ISSN: | 1024-6193 |
DOI: | 10.55629/pakjpathol.v34i4.762 |