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

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 experienc...

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and their family members: a qualitative systematic review

“…A previous review of patients with similar rare diseases and their family members showed the burden of symptoms and treatment owing to disease progression. 35 Another review noted the challenges of living as patient with a rare disease and the challenges in the health care system. 36 …”

“… 33 , 42 In addition, lack of knowledge on the part of health care providers could lead to patient and family concerns. 35 Furthermore, as the disease progresses, patients with leukodystrophy have reduced ADLs and require multiple supports. Patients and families are required to select and combine these support services.…”

“… 13 , 31 This lack of knowledge extends to other lysosomal diseases besides leukodystrophy. 35 For patients and their families to receive appropriate care, there must be a system in which leukodystrophy specialists and other health care providers can work together. Proper coordination among supporters leads to smooth service delivery.…”

“…The lack of experts leads to delays in diagnosis and provision of appropriate treatment 33,42 . In addition, lack of knowledge on the part of health care providers could lead to patient and family concerns 35 . Furthermore, as the disease progresses, patients with leukodystrophy have reduced ADLs and require multiple supports.…”

Experiences of patients with lysosomal storage disorders receiving enzyme replacement therapy

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Evidence-based information sheets for health professionals

Information sourceThis Best Practice Information Sheet is a summary of evidence derived from a systematic review published in 2022 in JBI Evidence Synthesis. [1] Note: The information contained in this Best Practice Information Sheet must only be used by people who have the appropriate expertise in the field to which the information relates. While care has been taken to ensure that this Best Practice Information Sheet summarizes available research and expert consensus, any loss, damage, cost or expense or liability suffered or incurred as a result of reliance on this information (whether arising in contract, negligence, or otherwise) is, to the extent permitted by law, excluded.

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