The results were published in the journal Molecular Genetics and Metabolism, in the study “Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York.”
Gaucher disease is caused by mutations in the gene GBA, resulting in the abnormal buildup of the fat molecule glucocerebroside in organs. One of the biological consequences of this abnormal buildup is increased inflammation.
Because inflammation has also been linked with SARS-CoV-2 infection, researchers have hypothesized that people with Gaucher disease might be at higher risk of severe disease if they become infected.
In the new study, researchers at the Lysosomal Storage Disease Program at the Icahn School of Medicine at Mount Sinai report results from a survey of 181 people with Gaucher disease living in the New York City metropolitan area. The survey was conducted between June and August 2020.
“To our knowledge, this is the first study to systematically evaluate SARS-CoV-2 infections in GD [Gaucher disease] patients during the peak of the 2020 pandemic,” the investigators wrote.
Of the survey respondents, 150 were adults (mean age 50 years) and 31 were children with a mean age of 9. Most had type 1 Gaucher, while three patients had type 3 disease. The majority (85%) reported Ashkenazi Jewish ancestry, and most of the adults (78%) were receiving treatment with enzyme replacement or substrate reduction therapies for Gaucher disease.
In total, 25% of respondents reported experiencing at least one symptom of COVID-19, and 10% reported three or more symptoms. The most commonly reported symptoms in adults were fever, cough, and fatigue. In children, the most frequent symptom was fever.
Of the adults, 45 reported exposure to someone with COVID-19; most (62%) of them did not have any symptoms. Among exposed adults, 33 were tested for SARS-CoV-2 infection, of whom 10 tested positive.
“One third of adults with GD included in this study reported being exposed to SARS-CoV-2, however it is reassuring that the majority of them did not report any symptoms,” the researchers wrote.
Of 88 adults who were tested, 16 (18%) were positive for SARS-CoV-2 infection, as well as two of six tested children. Individuals who tested positive reported significantly more symptoms on average than those who tested negative (4.4 vs. 0.3). Two people (one adult and one child) who did not experience any symptoms tested positive for antibodies against the virus, which suggests they had been infected previously.
Statistical analyses indicated that respondents who reported feeling very tired were significantly more likely to test positive. No association was found between sex, age, body mass index, or number of coexisting conditions and the risk of testing positive. Specific GBA mutations and Gaucher-related treatment also were not associated with an increased risk of experiencing symptoms or of testing positive.
No COVID-19-related deaths, hospitalizations, or emergency room visits were reported. None of the survey respondents required specific treatment for COVID-19, and all were treated at home with over-the-counter medications.
“We are reassured to find that GD with its chronic metabolic inflammatory state does not seem to be associated with severe outcomes of SARS-CoV-2 infection,” the researchers concluded.
According to the team, limitations of this study include the fact that it was conducted at a single location, that virus exposure data were self-reported by patients, and that most of the respondents were not tested for infection.