Individuals with comorbidities are at higher risk of coronavirus disease 2019 (COVID-19) and worse outcome, but little information has been available about patients with genetic diseases and COVID-19. This study aims at evaluating the presence and outcome of COVID-19 in a cohort of Italian patients with tuberous sclerosis complex (TSC) and/or lymphangioleiomyomatosis (LAM), and at reviewing the possible effects of mTOR inhibitors on SARS-CoV-2 infection. We included 102 unselected individuals with a diagnosis of TSC and/or LAM assessed between January 1, 2020 and April 24, 2020 (29% children, 71% adults). Twenty-six patients were on mTOR inhibitors. Demographic data, TSC manifestations, presence, and outcomes in individuals with confirmed or suspected SARS-CoV-2 infection were evaluated. Health status and outcomes of all patients on mTOR inhibitors were assessed. One patient with severe TSC had polymerase chain reaction (PCR)-confirmed SARS-CoV-2 infection, was admitted to ICU, and died. Nine additional patients either met the definition of suspect case or presented with at least two of the most common symptoms of SARS-CoV-2 infection. All recovered fully. None of the patients treated with mTOR inhibitors for their underlying comorbidities was diagnosed with COVID-19, and those who showed suspicious respiratory symptoms recovered fully. This cohort study provides preliminary information on COVID-19 in people with TSC in Italy and suggests feasibility to systematically evaluate the role of mTOR inhibitors in SARS-CoV-2 infection.
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy / A. Peron, F. La Briola, F. Bruschi, S. Terraneo, C. Vannicola, R. Previtali, S. Perazzoli, E. Morenghi, G. Bulfamante, A. Vignoli, M.P. Canevini. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - (2020 Aug 17). [Epub ahead of print]
Titolo: | Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy |
Autori: | |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica |
Data di pubblicazione: | 17-ago-2020 |
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Tipologia: | Article (author) |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ajmg.a.61810 |
Appare nelle tipologie: | 01 - Articolo su periodico |
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