Hereditary angioedema in twins – Identification of a novel variant of the SERPING1 gene mutation in twins
Year: 2026
Type: article
Study design: Case Report
Abstract: Hereditary angioedema is an inherited condition marked by recurrent, non-pitting swelling of subcutaneous tissues, abdominal pain episodes, and occasional airway involvement that may become life-threatening. The majority of affected individuals carry disease-causing alterations in the Serpin Family G Member 1 (SERPING 1) gene. Mutation in other genes contributes to a small number of cases. Because the condition is uncommon, it is frequently overlooked in early stages, and episodes are often treated as allergic angioedema using corticosteroids and antihistamines. Confirmation of diagnosis for appropriate genetic counseling of trigger avoidance and guidance regarding measures to tackle edematous attacks. We report a case of 11-year-old twins presenting with swelling of the face, positive family history, and similar complaints and a heterozygous mutation in the SERPING1 gene successfully managed with systemic tranexamic acid.
Source: Indian Journal of Skin Allergy
Authors: Santoshdev Rathod, Ashish Jagati, Jeta Buch, Divya Patel
Institution: Smt. N.H.L. Municipal Medical College
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7130516818