Impact of COVID-19 Pandemic on quality of life of patients with lysosomal storage disorders receiving treatment at a tertiary care public health Institute in Mumbai, India

Background: The COVID-19 pandemic had an unprecedented impact on the health infrastructure in Mumbai which was the worst-hit city in India. Care of non-covid diseases, particularly chronic diseases would have been compromised in designated covid care centres. The study institute has been a referral centre for lysosomal storage disorders (LSDs) in India and treating patients with weekly or bi-weekly enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). The Institute served as a tertiary covid care centre during the COVID-19 pandemic. The strict lockdown measures to curb the infection spread resulted in restricted healthcare provisions and had a negative impact on general health, mental health and social well- being of the population. We therefore hypothesized that quality of life of lysosomal storage disorders patients under treatment was significantly impacted and the healthcare needs affected due to diversion of resources and infrastructure towards covid care at the Institute during the pandemic. The objectives of the study were to assess the impact of COVID-19 pandemic on the quality of life (QoL) of patients with LSDs receiving enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) during the pandemic. Also, to determine factors impacting treatment of patients with LSDs during the COVID-19 pandemic.
Methods: A prospective, observational study was conducted over period of 3 months from January 2022 to March 2022 in the Genetic Clinic. Consenting parents/patients with confirmed diagnosis of LSDs and have received treatment for at least 6 months before March 2020 were included after obtaining institutional ethics committee approval. Impact on quality of life was assessed by using the WHOQOL-BERF questionnaire which involves four domains, physical health, social life, psychological and environmental health. The questionnaire comprises of 26 questions on the individual’s perception of their health and well-being over the previous four weeks as well as two separate questions on individual’s overall perception of their health and quality of life.Information about infusion practices (site of infusion, dose of infusion, missed infusions, missed monitoring visits) during a 15 months period before onset of pandemic (January 2019 to March 2020) and during the pandemic (April 2020 to March 2022) was also recorded telephonically.
Results: Fifteen (14 patients of Gaucher disease and 1 patient of MPS II) out of 17 patients with LSDs that were treated at the Institute could be enrolled in the study. Overall quality of life was regarded as good by 66.7% patients and 80% were satisfied with their health. Lowest scores were observed in the social domain (median score of 50, range 19 to 69), followed by the physical domain (median score of 69, range 31 to 94 ) & psychological domain (median score of 69, range 44 to 100) and the highest scores were recorded in the environmental domain (median score of 75, range 31 to 100). Poor QoL was reported by 20% of respondents in the psychological domain and 13.4% each in physical, social, and environmental domains. Out of the fifteen patients, thirteen patients received ERT and two were on SRT (eliglustat tartrate). Before the pandemic, six (46%) patients were receiving ERT at the Institute with an average distance of 113.28 km to travel to the Institute. On an average 3.3 missed infusions/patient/year were recorded. During the pandemic years 2020-2021, five (38.4%) patients opted for home infusions and four (30.7%) opted to receive ERT at a local healthcare facility. Thus the average travel distance reduced to 102.7 km in 2020-2021. The average number of missed infusions increased to 10.1 per patient/year. The most frequently cited reasons for disrupted treatment were inability to travel to the Institute (69%), fear of getting COVID-19 infection (38.46%), relocation to village temporarily (30.7%), delay in import of medication (23%) and monetary issues (23%).
Conclusions: The overall health and quality of life of the patients was not significantly impaired but the social domain was maximally affected. The psychological well-being of the patients had been interrupted leading to anxiety, depression and sleep disturbances. The chronic stressors in the form of nation-wide lockdowns and subsequently restrictions on mass movement of people and gatherings, need to be considered. The environmental domain was least affected possibly with the restricted travel and slowing down of economic activities leading to decrease in air pollution as well as noise pollution. Thus, in the wake of the COVID-19 pandemic, the study highlights the need for strengthening of mental health services with emphasis on yoga and meditation to decrease levels of stress. Improvement in telemedicine and mobile health technologies would be helpful in frequent follow ups and care of such chronic, progressive disorders. There is a need for development of home-based therapies for LSDs and strengthening of logistics of drug procurement and delivery in low-middle income countries like India. This would ensure uninterrupted treatment during periods of health crisis.