D2.315 - Clinical features and Progress of Diagnosis and Therapy of Hereditary Angioedema in China: A Systemic Review of Published Cases

Hereditary angioedema (HAE) is a rare, potentially life-threatening disease characterized by the episodic attack of skin or mucosal swelling, which most commonly affects the skin, the gastrointestinal tract and respiratory tract. The extremely lack of acknowledgement of the disease in clinicians is the main reason of current misdiagnosis and postponed treatment. Here, we reviewed the literature of Chinese case reports and case series, and made a systemic review of the clinical feature of Chinese patients of HAE, and also summarized the progress of diagnosis and therapy of HAE in China. Trying to provide more information of HAE for the futreu better treatment of those patients.

An initial systematic literature search was performed by an experienced librarian collecting the case reports since the first report in 1980 till June 31, 2024. Data of demographic data and clinical manifestation were extracted from case reports after excluding the repeated or uncompleted reports.

Totally 68 reports described 107 cases with detailed age at visit, onset and the disease duration with 56 man and 51 woman. The average age of visit, onset is about 38.8±15.8,18.8±11.3 respectively. The disease duration before diagnosis is 18.3±12.9. Patients with family history is about 80%. More than half patients (62/107) showed self remission. Death due to HAE is 29/42, and edema of throat is 26, most were man. The initial symptoms are limb and facial edema, though larygoedema also could be the sole symptom at the first attack. Most people underwent the test of C4 and C1 inhibitory esterase, but seldom took gene test. Treatment of HAE in China mainly were conventional drug treatment with Danazole and surgery. Recently introduced monoclonal antibody such as icatibant significance increase the control of the attack. 

The diagnosis and treatment of HAE is still on a low level and needs more attention. The introduce of new treatment showed significant benefit for patients.