DIM-Interdisciplinary Department of Medicine, "Frugoni" Internal Medicine and Geriatrics Unit, HHT Interdepartmental Center, VascERN HHT Reference Center, Policlinico Hospital, University of Bari, P.zza Giulio Cesare, 70124, Bari, Italy.
Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Orphanet J Rare Dis. 2021 Sep 8;16(1):378. doi: 10.1186/s13023-021-02000-2.
Coronavirus Disease 2019 (COVID-19) continues to have a devastating impact across the world. A number of pre-existing common clinical conditions were reported to represent risk factors for more severe COVID-19 outcomes. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular heritable disorders, characterized by complications secondary to visceral Arterio-Venous Malformations. The impact of HHT, as well as for many Rare Diseases (RDs) on infection susceptibility profile and clinical adverse outcome risk is an unresolved issue.
The main objectives were: to assess the clinical features and outcomes of HHT patients infected with COVID-19; to compare the relative infection risk in these patients with the Italian general population throughout the first pandemic wave; to investigate the factors potentially associated with severe COVID-19 outcome in HHT patients, and the possible impact of COVID-19 infection on HHT-related symptoms/complications. Finally, we aimed to estimate how the lockdown-associated wearing of personal protective equipment/individual protection devices could affect HHT-related telangiectasia bleeding frequency.
The study is a nation-wide questionnaire-based survey, with a multi-Center retrospective cross-sectional design, addressed to the whole Italian HHT population. COVID-19 cases, occurring throughout the first pandemic wave, were collected by a questionnaire-based semi-structured interview. Only the cases ascertained by laboratory confirmation (molecular/serological) were included for epidemiological estimates. Information concerning eventual SarS-Cov-2 infection, as well as regarding HHT-related manifestations and HHT-unrelated co-morbidities were collected by the questionnaire. Prevalence data were compared to Italian general population in the same period.
The survey disclosed 9/296 (3.04%) COVID-19 cases, 8/9 of them being resident in Lombardy, the main epidemic epicenter. Pneumonia was reported by 4/9 patients, which prompted hospital admission and intensive care management in 2 cases. No fatal outcome was recorded. After careful refinement of epidemiological analysis, the survey evidenced overlapping infection risk in HHT compared to general population.
COVID-19 infection profile parallels geographical distribution of epidemic foci. COVID-19 in HHT patients can lead to highly variable clinical profile, likely overlapping with that of general population. The HHT disease does not seem to involve a different approach in terms of hospital admission and access to intensive care with respect to general population.
2019 年冠状病毒病（COVID-19）继续在全球范围内造成破坏性影响。据报道，一些现有的常见临床疾病是 COVID-19 更严重结果的危险因素。遗传性出血性毛细血管扩张症（HHT）是一种罕见的血管遗传性疾病，其特征是继发于内脏动静脉畸形的并发症。HHT 以及许多罕见疾病（RDs）对感染易感性特征和临床不良后果风险的影响是一个未解决的问题。
主要目的是：评估感染 COVID-19 的 HHT 患者的临床特征和结局；将这些患者的相对感染风险与整个第一波大流行期间的意大利普通人群进行比较；探讨与 HHT 患者严重 COVID-19 结局相关的潜在因素，以及 COVID-19 感染对 HHT 相关症状/并发症的可能影响。最后，我们旨在估计与大流行相关的佩戴个人防护设备/个人防护装置如何影响 HHT 相关毛细血管扩张出血的频率。
该研究是一项全国范围内的问卷调查，采用多中心回顾性横断面设计，面向意大利所有 HHT 人群。通过基于问卷的半结构化访谈收集整个第一波大流行期间发生的 COVID-19 病例。仅包括通过实验室确认（分子/血清学）确定的病例进行流行病学估计。通过问卷收集有关 HHT 相关表现和 HHT 无关合并症的信息。比较流行期间意大利普通人群的患病率数据。
该调查披露了 9/296（3.04%）例 COVID-19 病例，其中 8/9 例居住在伦巴第，这是主要的疫情中心。9 例患者中有 4 例报告有肺炎，其中 2 例需要住院和重症监护管理。未记录到死亡病例。经过仔细的流行病学分析细化后，调查表明 HHT 与普通人群的感染风险重叠。
COVID-19 感染情况与流行中心的地理分布相吻合。HHT 患者中的 COVID-19 可能导致高度可变的临床特征，与普通人群的特征相似。与普通人群相比，HHT 疾病在住院和获得重症监护方面似乎不需要采取不同的方法。
