D1.471 - From Grandmother to Granddaughter: A Case Report of Hereditary Angioedema Diagnosed in the Third Generation

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling in various parts of body. Due to its rarity, HAE presents a diagnostic challenge, mainly when it mimics other disorders. Since 2019, the Armenian HAE Initiative has been included in the global HAE platform, and the patient database is being collected. We present an interesting case of HAE type 1 which was identified only in the third generation.

A 12-year-old girl was referred to a pediatric clinic with bilateral swelling of the periorbital area and lips that had persisted for three days. The swelling began suddenly, and despite receiving antihistamines, her symptoms did not improve. Medical history revealed recurrent short-time episodes of angioedema occurring three to four times annually since age six, affecting arms, legs, and eyes, for which the patient has never been examined. Notably, the paternal grandmother died from laryngeal edema, and the father experienced similar recurrent episodes. Upon examination, vital signs were stable. Laboratory results showed normal CRP level and ESR, with no leukocytosis. A physical exam indicated no wheezing and clear lung auscultation. Initially, the patient was treated with antihistamines and systemic corticosteroids, which were ineffective. Due to this and the fact that HAE was suspected based on familial history, 300 ml fresh frozen plasma was promptly administered. The next day, laboratory tests revealed a low complement C4 level and decreased C1-INH activity, along with low C1-INH concentration. Based on these findings, the patient was diagnosed with HAE type I and discharged from the clinic three days later in stable condition with appropriate follow-up instructions.

Thus, this case emphasizes the importance of recognizing familial patterns and raising awareness among healthcare providers regarding the presentation of HAE, especially in pediatric populations. This can be significantly facilitated by the widespread introduction of guidelines for the management of patients with HAE in the practice of primary healthcare providers and periodic information campaigns among healthcare workers, which, in addition to registration and specialized observation of the patients, are the most important tasks of the Armenian HAE Initiative as a part of global HAE platform.

The parents of the patient have given their written informed consent for publication.