Hereditary angio-oedema in Denmark: a nationwide survey
Hereditary angio-oedema in Denmark: a nationwide survey
复制标题
DOI：
10.1111/j.1365-2133.2009.09366.x
复制
发表时间：
2009-11-01
影响因子：
10.3
通讯作者：
Bygum, A.
中科院分区：
文献类型：
--
作者：
Bygum, A.
背景遗传性血管水肿(HAE)是一种由于补体C1抑制物(C1Inhibitor)缺乏而引起的罕见疾病。由于该病可能有多种临床表现，因此诊断具有挑战性。2001年，丹麦建立了国家HAE综合护理中心，并开始寻找这些患者。目的识别和描述丹麦所有HAE患者的特征，提高对这种疾病的认识。方法从医院科室、私人诊所皮肤科医生、罕见病中心、丹麦患者组织和国家参考实验室招募患者。进行了家庭访谈并对医疗记录进行了评估。信息通过讲座、流行杂志上的文章和电视传播。结果确诊患者82例。平均诊断延迟16.3年。5名患者患有II型HAE。45名患者报告了一种特征性的锯齿状皮疹(边缘红斑)。超过90%的患者在皮肤和粘膜肿胀之前就注意到了诱发因素。4名患者接受了8次气管切开手术，5个家庭召回了11名死于HAE的亲属。结论丹麦HAE的最低患病率类似于1.41/10万居民。上呼吸道阻塞的风险突出了诊断这些患者的重要性。诱发因素，先前或伴随的浆液性红斑和皮肤肿胀和/或腹痛发作和/或喉部水肿是诊断的线索。作为这项调查的结果，信息已传播给患者、家庭和医生。
Background Hereditary angio-oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated.Objectives To identify and characterize all patients with HAE in Denmark and increase awareness of the disease.Methods Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published.Results Eighty-two patients were identified. The mean diagnostic delay was 16.3 years. Five patients had HAE type II. Forty-five patients reported a characteristic serpiginous rash (erythema marginatum). More than 90% of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE.Conclusions The minimal prevalence of HAE in Denmark is similar to 1.41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.