"Frugoni" Internal Medicine and Geriatrics Unit, Centro Sovraziendale per le Malattie Rare, DIM-Interdisciplinary Department of Medicine, HHT Interdepartmental Center, VascERN HHT Reference Center, Policlinico Hospital, University of Bari, Bari, Italy.
Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Intern Emerg Med. 2023 Jun;18(4):1109-1118. doi: 10.1007/s11739-023-03287-8. Epub 2023 May 4.
Rare Disease patients manifested high concern regarding the possible increased risk of severe outcomes and worsening of disease-specific clinical manifestation due to the impact of COVID-19. Our aim was to assess the prevalence, outcomes, and impact of COVID-19 in patients with a rare disease such as Hereditary Hemorrhagic Telangiectasia (HHT) in Italian population. A nationwide, multicentric, cross-sectional observational study was conducted on patients with HHT from five Italian HHT centers by online survey. The association between COVID-19-related signs and symptoms and nosebleeds worsening, the impact of personal protective equipment on nosebleeds pattern, and the relationship between the presence of visceral AVMs and severe outcomes were analyzed. Out of 605 total survey responses and eligible for analysis, 107 cases of COVID-19 were reported. A mild-course COVID-19 disease, not requiring hospitalization, was observed in 90.7% of patients, while the remaining eight cases needed hospitalization, two of them requiring intensive-care access. No fatal outcome was recorded and 79.3% of patients reported a complete recovery. No difference in infection risk and outcome between HHT patients and general population was evidenced. No significative interference of COVID-19 on HHT-related bleeding was found. The majority of patients received COVID-19 vaccination, with relevant impact on symptoms and need for hospitalization in case of infection. COVID-19 in HHT patients had an infection profile similar to the general population. COVID-19 course and outcome were independent from any specific HHT-related clinical features. Moreover, COVID-19 and anti-SARS-CoV-2 measures did not seem to affect significantly HHT-related bleeding profile.
罕见病患者对 COVID-19 可能导致严重后果和疾病特定临床表现恶化的风险增加表示高度关注。我们的目的是评估 COVID-19 在意大利人群中患有遗传性出血性毛细血管扩张症（HHT）等罕见病患者中的患病率、结局和影响。通过在线调查，对来自意大利五个 HHT 中心的 HHT 患者进行了一项全国性、多中心、横断面观察性研究。分析了 COVID-19 相关症状与鼻出血恶化之间的关系、个人防护设备对鼻出血模式的影响，以及内脏动静脉畸形的存在与严重结局之间的关系。在总共 605 份调查回复中，有 107 例符合分析条件。90.7%的患者观察到 COVID-19 为轻度病程，无需住院治疗，而其余 8 例需要住院治疗，其中 2 例需要进入重症监护病房。未记录到死亡病例，79.3%的患者报告完全康复。未发现 HHT 患者与一般人群之间的感染风险和结局存在差异。未发现 COVID-19 对 HHT 相关出血有明显干扰。大多数患者接种了 COVID-19 疫苗，感染后症状和住院需求有明显影响。HHT 患者的 COVID-19 感染谱与一般人群相似。COVID-19 病程和结局与任何特定的 HHT 相关临床特征无关。此外，COVID-19 和抗 SARS-CoV-2 措施似乎并没有显著影响 HHT 相关出血的特征。
