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Published on: September 20, 2018
Patients With Berardinelli-Seip and Silver-Russell Syndromes Hospitalized due to Coronavirus Disease (COVID)-19 in
Luiz Felipe Azevedo Marques1,2,3, Adriele Evelyn Ferreira Silva1,2,3, Patrícia Teixeira Costa1,2,3
1Laboratory of Molecular Biology and Genetics, Postgraduate Program in Health Sciences, Postgraduate Program in Health Data Science, São Francisco University (USF, of the Portuguese Universidade São Francisco), Bragança Paulista, São Paulo, Brazil.
Insights
This study on Berardinelli-Seip syndrome and Silver-Russell syndrome patients with COVID-19 found no consistent link between these rare diseases and severe outcomes. Most patients recovered, suggesting multidisciplinary care may improve prognosis in rare genetic disorders during pandemics.
Area of Science:
- Endocrinology
- Genetics
- Infectious Diseases
Background:
- Berardinelli-Seip syndrome and Silver-Russell syndrome are rare genetic disorders associated with metabolic complications.
- These conditions may potentially worsen outcomes for coronavirus disease (COVID)-19.
- Understanding COVID-19's impact on rare diseases is crucial for public health preparedness.
Purpose of the Study:
- To analyze the outcomes of hospitalized patients with Berardinelli-Seip syndrome or Silver-Russell syndrome who contracted COVID-19.
- To investigate potential associations between these rare genetic conditions and COVID-19 severity.
- To inform clinical management and risk stratification for rare diseases during pandemics.
Main Methods:
- Retrospective analysis of five hospitalized patients in Brazil with confirmed COVID-19.
- Two patients had Berardinelli-Seip syndrome, and three had Silver-Russell syndrome.
- Data collected on symptoms, hospitalization, intensive care needs, and outcomes.
Main Results:
- Most patients presented with respiratory symptoms and hypoxia; two required intensive care, and two needed noninvasive ventilation.
- One unvaccinated patient with Berardinelli-Seip syndrome and comorbidities died; four patients were discharged.
- Hospital stays were short, and overall progression was under two weeks, with no consistent association between syndrome type and COVID-19 severity.
Conclusions:
- Contrary to expectations, Berardinelli-Seip syndrome and Silver-Russell syndrome were not uniformly associated with poor COVID-19 outcomes in this small cohort.
- Regular multidisciplinary follow-up may have contributed to favorable outcomes, particularly in Silver-Russell syndrome patients.
- Larger studies are needed to clarify interactions between rare diseases and COVID-19 for improved risk assessment and management.
Abstract:
Berardinelli-Seip syndrome is a rare genetic disorder characterized by the near absence of subcutaneous fat and a high prevalence of metabolic complications, such as diabetes mellitus and cardiovascular disease, which may worsen coronavirus disease (COVID)-19 outcomes. Silver-Russell syndrome, also a rare genetic condition, involves intrauterine growth restriction and multiple metabolic and physical abnormalities that could potentially worsen prognosis after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This study analyzed five hospitalized patients in Brazil, two with Berardinelli-Seip syndrome and three with Silver-Russell syndrome, with confirmed COVID-19. The results showed that most patients presented respiratory symptoms and peripheral oxygen saturation below 95% at admission. Among the cases, two required intensive care and two required noninvasive ventilatory support. Four patients were discharged, while one 19-year-old patient with Berardinelli-Seip syndrome, who had multiple comorbidities and was unvaccinated, died. Symptom onset preceded hospitalization by 2-8 days in Berardinelli-Seip and 2-7 days in Silver-Russell patients. Time from symptom onset to outcome ranged from 6 to 10 days. Hospital stays were short (2-6 days). No Berardinelli-Seip patient required intensive care unit admission; two Silver-Russell patients required brief intensive care unit stays. Overall progression remained under 2 weeks. The study did not identify a consistent association between COVID-19 severity and the presence of these two syndromes, although regular multidisciplinary follow-up may have contributed to favorable outcomes in patients with Silver-Russell syndrome. Despite diagnostic and data-source limitations, the findings suggest that these rare conditions were not uniformly associated with poor outcomes, contrary to initial expectations. Further studies with larger cohorts are needed to clarify the interaction between rare diseases and COVID-19, improve risk stratification, and support clinical management in future public health emergencies.
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