COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study

Neurology. 2022 Apr 5;98(14):576-582. doi: 10.1212/WNL.0000000000200240. Epub 2022 Feb 21.


Background and objectives: 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.

Methods: 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).

Results: 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 (p = 0.003) and mRS (p = 0.001), presence of respiratory dysfunction (p < 0.001), neurologic involvement (p = 0.003), and more than 4 comorbidities (p = 0.002). In multivariable analysis, respiratory dysfunction was independently associated with COVID-19 hospitalization (odds ratio, 7.66; 95% CI, 2-28; p = 0.002).

Discussion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • COVID-19 Testing
  • COVID-19* / epidemiology
  • Cross-Sectional Studies
  • Hospitalization
  • Humans
  • Mitochondrial Diseases* / complications
  • Mitochondrial Diseases* / epidemiology
  • Mitochondrial Diseases* / therapy
  • SARS-CoV-2