Department of Medicine, University of Vermont, Burlington, VT.
Department of Medicine, University of Colorado, Aurora, CO.
Chest. 2021 Jan;159(1):311-327. doi: 10.1016/j.chest.2020.07.088. Epub 2020 Aug 26.
The treatment, genotyping, and phenotyping of patients with World Health Organization Group 1 pulmonary arterial hypertension (PAH) have evolved dramatically in the last decade.
The United States Pulmonary Hypertension Scientific Registry was established as the first US PAH patient registry to investigate genetic information, reproductive histories, and environmental exposure data in a contemporary patient population.
Investigators at 15 US centers enrolled consecutively screened adults diagnosed with Group 1 PAH who had enrolled in the National Biological Sample and Data Repository for PAH (PAH Biobank) within 5 years of a cardiac catheterization demonstrating qualifying hemodynamic criteria. Exposure and reproductive histories were collected by using a structured interview and questionnaire. The biobank provided genetic data.
Between 2015 and 2018, a total of 499 of 979 eligible patients with clinical diagnoses of idiopathic PAH (IPAH) or familial PAH (n = 240 [48%]), associated PAH (APAH; n = 256 [51%]), or pulmonary venoocclusive disease/pulmonary capillary hemangiomatosis (n = 3 [1%]) enrolled. The mean age was 55.8 years, average BMI was 29.2 kg/m, and 79% were women. Mean duration between symptom onset and diagnostic catheterization was 1.9 years. Sixty-six percent of patients were treated with more than one PAH medication at enrollment. Past use of prescription weight loss drugs (16%), recreational drugs (27%), and oral contraceptive pills (77%) was common. Women often reported miscarriage (37%), although PAH was rarely diagnosed within 6 months of pregnancy (1.9%). Results of genetic testing identified pathogenic or suspected pathogenic variants in 13% of patients, reclassifying 18% of IPAH patients and 5% of APAH patients to heritable PAH.
Patients with Group 1 PAH remain predominately middle-aged women diagnosed with IPAH or APAH. Delays in diagnosis of PAH persist. Treatment with combinations of PAH-targeted medications is more common than in the past. Women often report pregnancy complications, as well as exposure to anorexigens, oral contraceptives, and/or recreational drugs. Results of genetic tests frequently identify unsuspected heritable PAH.
在过去十年中，世界卫生组织第 1 组肺动脉高压（PAH）患者的治疗、基因分型和表型已发生巨大变化。
美国肺动脉高压科学登记处是第一个美国 PAH 患者登记处，旨在调查当代患者群体中的遗传信息、生殖史和环境暴露数据。
15 个美国中心的研究人员连续入组了在心脏导管检查后 5 年内入组国家生物样本和数据储存库进行肺动脉高压（PAH 生物库）的符合条件的 1 组 PAH 成年患者。通过使用结构化访谈和问卷收集暴露和生殖史。生物库提供了遗传数据。
在 2015 年至 2018 年间，共有 979 名符合临床诊断特发性 PAH（IPAH）或家族性 PAH（n=240 [48%]）、相关 PAH（APAH；n=256 [51%]）或肺静脉闭塞病/肺毛细血管血管瘤病（n=3 [1%]）患者中，有 499 名患者有临床诊断 IPAH 或家族性 PAH，入组。平均年龄为 55.8 岁，平均 BMI 为 29.2kg/m2，79%为女性。症状发作和诊断性导管检查之间的平均时间为 1.9 年。66%的患者在入组时接受了一种以上的 PAH 药物治疗。过去使用处方减肥药（16%）、娱乐性药物（27%）和口服避孕药（77%）很常见。女性经常报告流产（37%），尽管很少在怀孕后 6 个月内诊断出 PAH（1.9%）。基因检测结果在 13%的患者中发现了致病性或疑似致病性变异，将 18%的 IPAH 患者和 5%的 APAH 患者重新分类为遗传性 PAH。
第 1 组 PAH 患者仍主要为中年女性，诊断为 IPAH 或 APAH。PAH 的诊断延迟仍然存在。PAH 靶向药物联合治疗比过去更为常见。女性经常报告妊娠并发症，以及接触厌食剂、口服避孕药和/或娱乐性药物。基因检测结果经常发现未被怀疑的遗传性 PAH。
