An Australian researcher wrote an evidence-based information sheet to improve the adherence of patients with lysosomal storage disorders to enzyme replacement therapy (ERT) in a systematic review published in JBI EBP Database

There are more than 50 types of lysosomal storage disorders, including lysosomal acid lipase deficiency (LAL-D). Lysosomal storage disorders are rare, inherited metabolic disorders that can cause multiorgan pathology. 

ERT has emerged as a key therapeutic tool to prevent the deterioration of symptoms in patients with lysosomal storage disorders. ERT is usually administered every few weeks via intravenous infusion in a homecare or outpatient setting. It is a form of therapy that requires continuous, lifelong administration.

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“Given that [lysosomal storage disorders] are rare diseases, there are a limited number of clinicians who are specialists in the field and also a limited number of hospitals that provide ERT,” Stephenson wrote. “This can cause challenges for patients to access the care that they require.”

Read more about LAL-D

Stephenson conducted a systematic review to explore the experiences of patients with lysosomal storage disorders receiving ERT. A total of 37 findings were extracted from 7 studies across the globe.

Stephenson found that it was important that patients be made aware that improvements in physical symptoms by ERT may take some time to manifest. In addition, it was important to customize treatment plans as much as possible to accommodate the lifestyle of patients.

The systematic review also uncovered the importance of helping patients accept the disease and cope with psychological challenges associated with it. This is because some patients may experience an altered self-image and family members may begin worrying about the implications of the disease on the patients’ future.

“Psychiatrists, genetic counselors, occupational health staff, doctors, and nurses with knowledge of hereditary diseases should be included in medical teams that help patients and their families accept the disease and negotiate the associated psychological challenges,” Stephenson recommended. 


Stephenson M. Best practice information sheet: experiences of patients with lysosomal storage disorders receiving enzyme replacement therapy. JBI EBP Database. 2022;24(3):1-4. doi:10.1111/nhs.12893