From the Department of Neuromuscular Diseases (C.P., P.M.M., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London; and Wellcome Centre for Mitochondrial Research (R.H.T., G.S.G., R.M.), Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Neurology. 2022 Apr 5;98(14):576-582. doi: 10.1212/WNL.0000000000200240. Epub 2022 Feb 21.
To identify factors associated with severe coronavirus disease 2019 (COVID-19), defined by hospitalization status, in patients with primary mitochondrial diseases (PMDs), thereby enabling future risk stratification and informed management decisions.
We undertook a cross-sectional, international, registry-based study. Data were extracted from the International Neuromuscular COVID-19 Database and collected between May 1, 2020, and May 31, 2021. The database included subjects with (1) PMD diagnosis (any age), clinically/histopathologically suspected and/or genetically confirmed; and (2) COVID-19 diagnosis classified as "confirmed", "probable", or "suspected" based on World Health Organization definitions. The primary outcome was hospitalization because of COVID-19. We collected demographic information, smoking status, coexisting comorbidities, outcomes after COVID-19 infection, and PMD genotype-phenotype. Baseline status was assessed using the modified Rankin scale (mRS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS).
Seventy-nine subjects with PMDs from 10 countries were included (mean age 41.5 ± 18 years): 25 (32%) were hospitalized, 48 (61%) recovered fully, 28 (35%) improved with sequelae, and 3 (4%) died. Statistically significant differences in hospitalization status were observed in baseline status, including the NMDAS score ( = 0.003) and mRS ( = 0.001), presence of respiratory dysfunction ( < 0.001), neurologic involvement ( = 0.003), and more than 4 comorbidities ( = 0.002). In multivariable analysis, respiratory dysfunction was independently associated with COVID-19 hospitalization (odds ratio, 7.66; 95% CI, 2-28; = 0.002).
Respiratory dysfunction is an independent risk factor for severe COVID-19 in PMDs while high disease burden and coexisting comorbidities contribute toward COVID-19-related hospitalization. These findings will enable risk stratification and informed management decisions for this vulnerable population.
确定与原发性线粒体疾病（PMD）患者住院状态相关的严重 2019 年冠状病毒病（COVID-19）的相关因素，从而实现未来的风险分层和管理决策。
我们进行了一项横断面、国际、基于登记的研究。数据来自 2020 年 5 月 1 日至 2021 年 5 月 31 日期间的国际神经肌肉 COVID-19 数据库。该数据库纳入了以下人群：（1）PMD 诊断（任何年龄），临床表现/组织病理学疑似和/或基因证实；（2）根据世界卫生组织的定义，COVID-19 诊断为“确诊”、“可能”或“疑似”。主要结局是因 COVID-19 住院。我们收集了人口统计学信息、吸烟状况、并存合并症、COVID-19 感染后的结局以及 PMD 基因型-表型。使用改良 Rankin 量表（mRS）和纽卡斯尔线粒体疾病成人量表（NMDAS）评估基线状态。
纳入了来自 10 个国家的 79 名 PMD 患者（平均年龄 41.5 ± 18 岁）：25 名（32%）住院，48 名（61%）完全康复，28 名（35%）有后遗症改善，3 名（4%）死亡。在基线状态方面，包括 NMDAS 评分（ = 0.003）和 mRS（ = 0.001）、呼吸功能障碍（ < 0.001）、神经受累（ = 0.003）和存在 4 种以上合并症（ = 0.002），住院状态存在统计学显著差异。在多变量分析中，呼吸功能障碍是 COVID-19 住院的独立危险因素（比值比，7.66；95%CI，2-28； = 0.002）。
呼吸功能障碍是 PMD 患者严重 COVID-19 的独立危险因素，而高疾病负担和并存合并症导致 COVID-19 相关住院。这些发现将为这一脆弱人群提供风险分层和管理决策。
