Servicio de Clínica Médica, Hospital Italiano de Buenos Aires, Argentina. E-mail:
Unidad de Telangiectasia Hemorrágica Hereditaria, Hospital Italiano de Buenos Aires, Argentina.
Medicina (B Aires). 2024;84(2):221-226.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia that might affect 1/5000-10 000 individuals worldwide. It is a rare and underdiagnosed condition. Population-based epidemiological studies are crucial for comprehending and quantifying the impact of this disease. We aim to estimate the prevalence in a Prepaid Health Care System of Buenos Aires, Argentina.
A descriptive cross-sectional study was designed, which included all patients over 18 years of age affiliated with the Hospital Italiano Medical Care Program (IHMCP), a prepaid health maintenance organization (HMO) of Buenos Aires. For case inclusion, individuals were required to have a clinical diagnosis of HHT. Case detection included the search in our Institutional Registry. The prevalence was calculated by dividing the number of cases of HHT by the total number of all active affiliates at January 2023. Age and gender specific prevalence rates were estimated.
48 cases were reported. The prevalence was 3.2 in 10 000 (IC 95% 2.4-4.2). Specific prevalence in women was 3.9 in 10 000 (IC 95% 2.8-5.5) and in men 2.1 in 10 000 (IC 95% 1.2-3.6). The average age was 54.8 (19), 35 patients were women (72.9%) with an average age of 55 (19.9), and 55 (17.2) for men. The most common referrals were physicians (60.4%) followed by family history (18.7%). The 48 patients corresponded to 39 families.
The prevalence identified in our study is higher than the one documented in other studies.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性血管发育不良疾病，可能影响全球每 5000-10000 人中的 1 人。这是一种罕见且未被充分诊断的疾病。基于人群的流行病学研究对于理解和量化这种疾病的影响至关重要。我们旨在估计阿根廷布宜诺斯艾利斯预付医疗保健系统中的患病率。
设计了一项描述性的横断面研究，该研究纳入了所有年龄在 18 岁以上的隶属于布宜诺斯艾利斯 IHMC（意大利人医院医疗保健计划）的患者。IHMC 是一家预付医疗保险组织（HMO）。为了纳入病例，要求患者有 HHT 的临床诊断。病例检测包括在我们的机构注册表中进行搜索。患病率是通过将 HHT 的病例数除以 2023 年 1 月所有活跃会员的总数计算得出的。估计了年龄和性别特异性患病率。
报告了 48 例病例。患病率为每 10000 人中有 3.2 例（95%置信区间为 2.4-4.2）。女性的特定患病率为每 10000 人中有 3.9 例（95%置信区间为 2.8-5.5），男性为每 10000 人中有 2.1 例（95%置信区间为 1.2-3.6）。平均年龄为 54.8（19），35 名女性（72.9%）的平均年龄为 55（19.9），55 名男性（17.2）。最常见的转诊医生（60.4%），其次是家族史（18.7%）。48 名患者对应 39 个家庭。
我们的研究中确定的患病率高于其他研究中的患病率。
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