Advanced Care Research Centre, Usher Institute, University of Edinburgh, Edinburgh, UK.
Institute of Health Informatics, University College London, London, UK.
Orphanet J Rare Dis. 2022 Apr 12;17(1):166. doi: 10.1186/s13023-022-02312-x.
Several common conditions have been widely recognised as risk factors for COVID-19 related death, but risks borne by people with rare diseases are largely unknown. Therefore, we aim to estimate the difference of risk for people with rare diseases comparing to the unaffected.
To estimate the correlation between rare diseases and COVID-19 related death, we performed a retrospective cohort study in Genomics England 100k Genomes participants, who tested positive for Sars-Cov-2 during the first wave (16-03-2020 until 31-July-2020) of COVID-19 pandemic in the UK (n = 283). COVID-19 related mortality rates were calculated in two groups: rare disease patients (n = 158) and unaffected relatives (n = 125). Fisher's exact test and logistic regression was used for univariable and multivariable analysis, respectively.
People with rare diseases had increased risk of COVID19-related deaths compared to the unaffected relatives (OR [95% CI] = 3.47 [1.21- 12.2]). Although, the effect was insignificant after adjusting for age and number of comorbidities (OR [95% CI] = 1.94 [0.65-5.80]). Neurology and neurodevelopmental diseases was significantly associated with COVID19-related death in both univariable (OR [95% CI] = 4.07 [1.61-10.38]) and multivariable analysis (OR [95% CI] = 4.22 [1.60-11.08]).
Our results showed that rare disease patients, especially ones affected by neurology and neurodevelopmental disorders, in the Genomics England cohort had increased risk of COVID-19 related death during the first wave of the pandemic in UK. The high risk is likely associated with rare diseases themselves, while we cannot rule out possible mediators due to the small sample size. We would like to raise the awareness that rare disease patients may face increased risk for COVID-19 related death. Proper considerations for rare disease patients should be taken when relevant policies (e.g., returning to workplace) are made.
已经广泛认识到一些常见疾病是 COVID-19 相关死亡的危险因素，但罕见病患者的风险却知之甚少。因此，我们旨在评估罕见病患者与未受影响者之间的风险差异。
为了估计罕见病与 COVID-19 相关死亡之间的相关性，我们对在英国 COVID-19 大流行第一波（2020 年 3 月 16 日至 2020 年 7 月 31 日）期间经基因泰克英国 10 万基因组计划参与者检测出 SARS-CoV-2 阳性的 283 名患者进行了回顾性队列研究。在两组中计算 COVID-19 相关死亡率：罕见病患者（n=158）和未受影响的亲属（n=125）。分别使用 Fisher 确切检验和逻辑回归进行单变量和多变量分析。
与未受影响的亲属相比，患有罕见病的人患 COVID19 相关死亡的风险增加（OR[95%CI] = 3.47[1.21-12.2]）。然而，在调整年龄和合并症数量后，该效果并不显著（OR[95%CI] = 1.94[0.65-5.80]）。神经科和神经发育疾病在单变量（OR[95%CI] = 4.07[1.61-10.38]）和多变量分析（OR[95%CI] = 4.22[1.60-11.08]）中均与 COVID19 相关死亡显著相关。
我们的结果表明，在英国 COVID-19 大流行第一波期间，基因泰克英国队列中的罕见病患者，尤其是受神经科和神经发育障碍影响的患者，COVID-19 相关死亡的风险增加。这种高风险可能与罕见疾病本身有关，由于样本量小，我们不能排除可能的中介因素。我们希望提高人们的认识，即罕见病患者可能面临 COVID-19 相关死亡的风险增加。在制定相关政策（例如重返工作岗位）时，应适当考虑罕见病患者。
