COVID-19 in Fabry disease: a reference center prospective study.

Area of Science:

• Rare diseases
• Infectious diseases
• Genetics

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder associated with chronic kidney disease, cardiomyopathy, pneumonopathy, and strokes.
• The impact of SARS-CoV-2 infection on FD patients remains largely unknown, necessitating identification of at-risk populations during the COVID-19 pandemic.

Purpose of the Study:

• To investigate the risk and clinical outcomes of SARS-CoV-2 infection in unvaccinated patients with Fabry disease.
• To identify factors contributing to severe COVID-19 in the FD population.

Main Methods:

• A cohort of 104 unvaccinated FD patients was monitored between February 2020 and March 2021.
• Serum antibody titers against SARS-CoV-2 were measured in 61 patients, and PCR testing was performed for symptomatic individuals or those with family exposure.
• Clinical data on COVID-19 symptoms, duration, and severity were collected from patients and physicians.

Main Results:

• 12.5% (13/104) of FD patients were diagnosed with SARS-CoV-2 infection.
• Two kidney transplant recipients experienced severe COVID-19, requiring hospitalization and high-flow oxygen.
• The majority of infected patients had mild (61.5%) or asymptomatic (23.1%) disease; 15.4% reported Fabry pain crises and 23.1% experienced long COVID-19 symptoms.

Conclusions:

• The risk of severe COVID-19 in FD patients appears primarily influenced by immune system status, similar to the general population.
• Immunosuppression, particularly in kidney transplant recipients, represents the most significant risk factor for severe COVID-19 in this cohort.