Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

ABSTRACT Objective: The objective of this review was to investigate the experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members. Introduction: Lysosomal storage disorders are rare diseases caused by mutations in the genes that encode proteins required for lysosomal function. The age of onset of these disorders varies from infancy to adulthood, depending on the specific disease and type. Enzyme-replacement therapy is the standard treatment for some lysosomal storage disorders. However, patients’ adherence to this treatment is affected not only by the resultant changes (or lack thereof) in their symptoms, but also by the scheduling of the frequent hospital visits necessary to receive this treatment. No previous qualitative systematic review has examined the experiences of these patients and their families. Inclusion criteria: Qualitative studies on the experiences of patients with lysosomal storage disorders who were receiving enzyme-replacement therapy and/or the experiences of the family members of these patients were included. These experiences could include satisfaction/dissatisfaction with diagnosis, difficulties and expectations regarding continuing treatment, advantages/disadvantages concerning school and work life, the psychological burden on families, and the support provided by families. This review considered studies in all settings because relevant experiences may occur outside medical institutions. Methods: MEDLINE, CINAHL Plus, APA PsycINFO, Scopus, and Igaku Chuo Zasshi were searched for articles published between January 1991 and May 13, 2021. No language restrictions were applied. The study selection, critical appraisal, data extraction, and data synthesis were performed in accordance with the JBI methodology for systematic reviews of qualitative evidence. Results: Seven studies were included in this review, from which 37 findings with narrative illustrations were extracted; of these, 33 were assessed as unequivocal and four as credible. These findings were integrated into 10 categories and three synthesized findings. The first synthesized finding was encouraging awareness of the minor changes in physical symptoms caused by the treatment, which contains categories such as physical change caused by treatment. The second synthesized finding was supporting acceptance of the disease and coping with associated psychological challenges, which contains categories such as concerns regarding the future. The third synthesized finding was customization of treatment plans to minimize restrictions on the lives of patients and their families, which contains categories such as restrictions on patients’ lives. According to the ConQual criteria, all three synthesized findings had low confidence levels. Conclusion: Evidence obtained through the synthesized findings produced in this review identified the primary experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and their family members. These experiences concerned challenges regarding physical, psychological, and social health. When supporting patients with lysosomal storage disorders and their families, it is necessary to consider not only the symptoms and treatments but also the mental and social aspects. Systematic review registration number: PROSPERO CRD42019147751