Hereditary angioedema in twins – Identification of a novel variant of the <i>SERPING1</i> gene mutation in twins

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.