Abstract
BackgroundHereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and patients to avoid possible risk factors and guide treatment.ObjectivesDescribe the natural course of HAE and explore possible risk factors, providing new clues for guiding clinical prevention and treatment.MethodsA web-based survey was conducted in 103 Chinese patients with type 1 HAE. Disease progression at different age stages was provided by each participant. The data for exploring the natural course of HAE composed of two parts: one came from the participants who had never adopted any prophylactic drug for HAE; the other was from the patients with a history of medication, but only the periods before they got confirmed diagnosis and received medications were analyzed. The demographic characteristics, lifestyles, disease severity, and family history were also collected.ResultsAmong 103 patients, 14 (13.6%) had their first HAE attack before 10 years old and 51 (49.5%) between 10 and 19. The disease worsened in 83.3% of the patients in their twenties. The proportion of patients with symptoms alleviated increased after the age of 30 years old, but the disease maintained relatively severe in most cases before 50. The participants also reported 233 members shared similar symptoms of angioedema in their family and 30 had died of laryngeal edema with the median death age of 46 years old. The disease severity was not observed to be affected significantly by gender, BMI, alcohol or smoking.ConclusionsWe summarized HAE progression patterns under therapy-free conditions, showing the natural course of HAE development along with aging. Long-term prophylaxis and symptomatic treatment are recommended for all HAE patients, especially young and middle-aged and might be adjusted depending on the disease progression.
Highlights
Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks
We proposed a new severity scoring system to evaluate the severity of HAE before confirmed diagnosis according to the edema frequency and locations to explore the possible risk factors
Of the 103 patients we surveyed, 223 family members were reported to share similar angioedema symptoms and 30 have died of laryngeal edema to date, with the median age of death of 46 (IQR, 35–53) years old, indicating that HAE may severely affect the lifespan of patients
Summary
Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and patients to avoid possible risk factors and guide treatment. Hereditary angioedema is a rare, autosomal dominant disease and is characterized by unpredictable and recurring episodes of subcutaneous and submucosal edema, which may affect the face, extremities, trunk, genitals, upper airways and gastrointestinal tract [1]. Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is caused by mutations in the SERPING1 gene (OMIM 106100), the C1-INH encoding gene. Type 1 HAE with low C1-INH expression and function accounts for the majority of HAE patients in China. A minority of Chinese patients developed type 2 HAE with normal levels but dysfunctional C1-INH protein [6]. Other types of HAE due to the defects in factor XII (HAE-FXII), plasminogen (HAEPLG) or angiopoietin-1 (HAE-ANGPT1) have not been reported in China to date
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