Frontiers in Medicine
Isolated gastrointestinal hereditary angioedema associated with a pathogenic SERPING1 variant arising de novo: a case report
Hereditary angioedema (HAE) is a rare genetic disorder typically characterized by cutaneous and submucosal edema. Cases presenting exclusively with gastrointestinal symptoms, devoid of concurrent or historical cutaneous or upper airway manifestations, are uncommon. This atypical presentation poses a considerable diagnostic challenge and often leads to a marked delay in diagnosis, particularly in patients without a family history. We report the case of a 28-year-old female with an over 6-year history of recurrent, s …