Ulus Travma Acil Cerrahi Derg. 2022; 9(4): 391-396

Impact of COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine.

Merve Yoldas Celik, Ebru Canda, Havva Yazıcı, fehime erdem, Sema Kalkan Uçar, Mahmut Coker
Ege University Faculty Of Medicine, Department Of Pediatrics, Division Of Pediatric Metabolism And Nutrition, Izmir, Turkey

INTRODUCTION: During the COVID-19 pandemic, visiting the hospital and getting regular infusions can be compelling for patients with chronic illnesses. Telemedicine may offer a good option for managing chronic diseases such as lysosomal storage diseases (LSD).
METHODS: The LSD patients were contacted by phone from April 2020 to March 2021 at the Unit of Metabolic Diseases of the Ege University during the COVID-19 pandemic. Telemedicine visits were performed at intervals every month or three months, depending on the patients' compliance with treatment.
RESULTS: 92 LSD patients (Mucopolysaccharidosis(MPS) I, MPS II, MPS IVA, MPS VI, MPS VII, Gaucher, Fabry, and Pompe) were included in the study. The total skipped treatment rate within one year was 17.1%. Most of the months of interruption were consonant with the time of social isolation. The treatment interruption in patients under 18 years was lower than in patients over 18 years. A positive correlation was detected between the age of patients and the interruption of treatment.
DISCUSSION AND CONCLUSION: The curfew periods might be one of the causes of missed treatment intervals. Telemedicine is a good option for increasing the continuity of treatments. This study showed that the number of interrupted enzyme replacement treatments could be decreased with ongoing telemedicine visits.

Keywords: Inherited metabolic diseases, Gaucher, Fabry, COVID-19, enzyme replacement treatment, telemedicine


Merve Yoldas Celik, Ebru Canda, Havva Yazıcı, fehime erdem, Sema Kalkan Uçar, Mahmut Coker. Impact of COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine.. Ulus Travma Acil Cerrahi Derg. 2022; 9(4): 391-396

Corresponding Author: Merve Yoldas Celik, Türkiye


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