The Natural Course of Hereditary Angioedema in a Chinese Cohort

Abstract

Background Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. Until now, few studies have focused on the natural course of HAE, which is essential for practitioners and patients to predict disease progression and avoid possible risk factors. Objectives Describe the natural course of HAE and explore possible risk factors, providing new clues for guiding clinical prevention and treatment. Methods A web-based survey was conducted in 103 Chinese patients with type 1 HAE. Disease progression under therapy-free conditions was collected at different age stages. The demographic characteristics, lifestyles, disease severity and family history were also provided by each participant. Results Among 103 patients, 14 (13.6%) had their first HAE attack before ten 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. Conclusions We summarized HAE progression patterns in therapy-free conditions, showing the natural course of disease 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.

Gut microbiome alterations in hereditary angioedema

“…About half of patients had not experienced edema for at least 1 month prior to sampling. All the patients were stratified based on the annual mean frequency of abdominal attacks and laryngeal edema, and the proportion of the patients with frequent gastrointestinal angioedema (49.1%) was higher than in our previous study 10 .…”

“…Thus, natural questions include whether alterations of the gut microbiome occur in HAE patients, whether bacterial biomarkers can be identified to detect recent HAE episodes, and whether there are differences in the microbiomes of patients with mild and severe HAE. The interquartile range for gastrointestinal and laryngeal edema in Chinese HAE patients was 0-5 and 0-2 times per year respectively 10 . Therefore, patients were divided into two groups based on the average number of abdominal attacks per year prior to medication: those with significant gastrointestinal angioedema (≥5 attacks per year) and those with infrequent gastrointestinal angioedema (<5).…”

“…Once diagnosed, all patients with HAE must be mindful of sudden abdominal pain or suffocation, as edema may occur at any time. Frustratingly, there is also significant intra-individual variability in symptoms over time 10 . Considering its unpredictability and the absence of effective medications in the acute phase, patients in China are recommended to take danazol (over 16 years old) or tranexamic acid (under 16) for life, which may lead to acne, weight gain, menstrual disorders, joint pain, liver damage, and other side effects 11 .…”

The prevalence of hereditary angioedema in a Chinese cohort with decreased complement 4 levels

“…25 The mean delay in diagnosis of HAE for Chinese patients could be even longer (12.64 years). 26 A study showed the Chinese HAE patients usually needed to consult 6 doctors before getting a confirmed diagnosis; their most frequently visited departments included emergency (90.6%), dermatology (71.9%), allergy (61.5%), gastroenterology (52.1%), rheumatology (34.4%), and otolaryngology (34.4%). 27 For the 2 HAE patients identified in our cohort, they both had received systemic corticosteroids for many times and had delayed diagnosis up to 25 years.…”