Rozenberg Dmitry, Leek Eva, Faughnan Marie E
Division of Respirology, Department of Medicine, University of Toronto, Toronto General Hospital, Canada.
Toronto HHT Centre, Division of Respirology, Department of Medicine, University of Toronto, St. Michael's Hospital, Toronto, Canada.
Respir Med. 2015 Jun;109(6):768-77. doi: 10.1016/j.rmed.2015.04.003. Epub 2015 Apr 15.
Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder associated with pulmonary AVMs (PAVMs), present in about 30-50% of patients. Dyspnea is frequently reported by about one-half of patients with PAVMs and has been related to the degree of right to left shunting. However, many HHT patients with PAVMs remain asymptomatic and those without PAVMs have been observed to have dyspnea, the cause of which has not been characterized. The study objectives were to determine the prevalence of dyspnea and its etiology in the HHT population.
Retrospective review of over 1000 patients at an HHT Center of Excellence from 1997 to 2010. Patients were categorized as definite HHT if they met ≥3 clinical diagnostic criteria or had a positive genetic diagnosis. Patients were unlikely to have HHT (non-HHT) if they had 1 or fewer diagnostic criteria. Data on dyspnea prevalence (MMRC ≥ 1), PAVMs, underlying cardio-pulmonary disease, symptomatic liver venous malformations, anemia and obesity was reviewed.
506 patients were categorized as having HHT, of which 202 (40%) had confirmed PAVMs. Dyspnea prevalence was 35% (178/506) vs. 18% (50/284, p < 0.0001) in the HHT and non-HHT patients, respectively. With multivariable logistic regression, the odds of dyspnea (MMRC ≥1) was 3.45 (95% CI 2.08-5.71) with the presence of PAVMs in HHT patients. Other independent predictors of dyspnea were older age, underlying cardio-pulmonary disease, anemia, and obesity.
Prevalence of dyspnea is significant, evident in about one-third of HHT patients, often associated with PAVMs. It is important to consider other etiologies for dyspnea when assessing patients with HHT.
遗传性出血性毛细血管扩张症（HHT）是一种与肺动静脉畸形（PAVM）相关的血管疾病，约30%-50%的患者存在该病症。约半数PAVM患者经常报告有呼吸困难，且这与右向左分流的程度有关。然而，许多患有PAVM的HHT患者仍无症状，而未患PAVM的患者也被观察到有呼吸困难，其病因尚未明确。本研究的目的是确定HHT人群中呼吸困难的患病率及其病因。
对1997年至2010年在一家卓越HHT中心的1000多名患者进行回顾性研究。如果患者符合≥3项临床诊断标准或基因诊断呈阳性，则被归类为确诊HHT。如果患者有1项或更少的诊断标准，则不太可能患有HHT（非HHT）。回顾了关于呼吸困难患病率（改良英国医学研究委员会呼吸困难量表≥1级）、PAVM、潜在心肺疾病、有症状的肝静脉畸形、贫血和肥胖的数据。
506例患者被归类为患有HHT，其中202例（40%）确诊有PAVM。HHT患者和非HHT患者的呼吸困难患病率分别为35%（178/506）和18%（50/284，p<0.0001）。通过多变量逻辑回归分析，HHT患者中存在PAVM时，呼吸困难（改良英国医学研究委员会呼吸困难量表≥1级）的几率为3.45（95%置信区间2.08-5.71）。呼吸困难的其他独立预测因素包括年龄较大、潜在心肺疾病、贫血和肥胖。
呼吸困难的患病率很高，在约三分之一的HHT患者中很明显，且常与PAVM相关。在评估HHT患者时，考虑呼吸困难的其他病因很重要。
