Villanueva Bernat, Sánchez-Corral Miguel Ángel, Alba Esther, Ordi Queralt, Ruiz Yolanda, Torres-Iglesias Raquel, Portillo Alejandro, Iriarte Adriana, Monforte Cristina, Gamundí Enric, Pintó Xavier, Ribas Jesús, Riera-Mestre Antoni
HHT Unit. Hospital Universitari Bellvitge, Barcelona, Spain; Internal Medicine Department. Hospital Universitari Bellvitge, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
HHT Unit. Hospital Universitari Bellvitge, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain; Cardiology Department, Hospital Universitari Bellvitge, Barcelona, Spain.
Eur J Intern Med. 2025 Feb;132:106-112. doi: 10.1016/j.ejim.2024.12.006. Epub 2024 Dec 11.
To describe the incidence of pulmonary arteriovenous malformations (PAVM)-related complications, right-to-left shunt (RLS) progression at transthoracic contrast echocardiography (TTCE) and development of treatable PAVM during long-term follow-up in hereditary hemorrhagic telangiectasia (HHT) patients with RLS grades 0-1 at screening TTCE.
Observational prospective study including adult HHT patients with grades 0-1 RLS at screening TTCE. Those requiring previous embolization of PAVM were excluded. PAVM-related complications and RLS progression during follow-up were recorded.
183 patients were followed-up during 5.6 [IQR: 3.3-8.2] years. Seven (3.8 %) patients developed potentially PAVM-related complications, although all of them were considered unrelated to HHT after multidisciplinary assessment. Among 84 patients with a follow-up TTCE, RLS progressed to grades ≥2 in eight (9.5 %). Among patients with grade 0 RLS at screening, 31.6 % evolved to grade 1 RLS during follow-up and none progressed to grade ≥ 2. Among patients with grade 1 RLS at screening, RLS increased in 17.4 %, by one grade in most cases, and two (2.4 %) patients developed treatable PAVM. Grade 1 RLS and a higher epistaxis severity score were associated with RLS progression.
In HHT patients with grades 0-1 RLS at screening, PAVM-related complications are rare. No patient with grade 0 RLS showed an increase in RLS of more than one grade on TTCE. Among patients with grade 1 RLS, rescreening every 5 years should be recommended because treatable PAVM can develop; follow-up with TTCE could be an alternative, as it would allow a better selection of patients for chest CT.
描述遗传性出血性毛细血管扩张症（HHT）患者在筛查经胸对比超声心动图（TTCE）时右向左分流（RLS）分级为0 - 1级的情况下，肺动静脉畸形（PAVM）相关并发症的发生率、TTCE时RLS的进展情况以及长期随访期间可治疗性PAVM的发生情况。
一项观察性前瞻性研究，纳入筛查TTCE时RLS分级为0 - 1级的成年HHT患者。排除既往需要对PAVM进行栓塞治疗的患者。记录随访期间PAVM相关并发症及RLS进展情况。
183例患者接受了5.6 [四分位间距：3.3 - 8.2]年的随访。7例（3.8%）患者出现了可能与PAVM相关的并发症，尽管经过多学科评估后所有这些并发症均被认为与HHT无关。在84例接受随访TTCE的患者中，8例（9.5%）的RLS进展至≥2级。在筛查时RLS为0级的患者中，31.6%在随访期间进展至1级RLS，无患者进展至≥2级。在筛查时RLS为1级的患者中，17.4%的患者RLS增加，多数情况下增加一级，2例（2.4%）患者出现可治疗性PAVM。1级RLS和更高的鼻出血严重程度评分与RLS进展相关。
在筛查时RLS分级为0 - 1级的HHT患者中，PAVM相关并发症罕见。筛查时RLS为0级的患者在TTCE上RLS增加未超过一级。对于筛查时RLS为1级的患者，建议每5年重新筛查，因为可能会出现可治疗性PAVM；也可以选择进行TTCE随访，因为这有助于更好地选择进行胸部CT检查的患者。
