Researchers revealed the needs expressed by patients with lysosomal storage diseases, such as lysosomal acid lipase deficiency (LAL-D), in transitioning from child to adult healthcare services, in the Orphanet Journal of Rare Diseases.

Lysosomal storage diseases have seen vast improvements in patient survival, allowing many patients to progress to adulthood. This is part of a wider trend across many rare diseases. “As a result, physicians treating adults are increasingly confronted with serious, rare diseases with which they may have little or no familiarity,” the researchers said.

In recent years, increasing attention has been given to supporting patients in their transition from pediatric to adult care in a range of diseases, such as diabetes, congenital heart diseases, and rare liver diseases. A host of recommendations have been made by medical societies to support these patients during what can be a difficult transition. 

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Genevaz and colleagues hence decided to conduct a national survey to understand how patients and physicians view the transition from child to adult care in lysosomal storage diseases. Recruited patients must be aged 15 years or older, have a lysosomal storage disease diagnosed before adulthood, and have the disease currently managed in a pediatric department.

A total of 54 patients were included, with their corresponding physicians also participating. The results demonstrated that the overwhelming majority of patients (80%) knew in advance that the transition to adult healthcare would occur, but 52% were only told after they turned 18 years old. Patients also rated the following actions to be “important/very important:”

  • The provision of exploratory documents on the transition (94%)
  • The proper transmission of medical documents from pediatric to adult healthcare services (94%)
  • A joint consultation with both pediatrician and adult unit physician (91%)

“The needs expressed by patients with lysosomal storage diseases are clear. We consider it essential for all healthcare staff in referral centers caring for these patients to increase efforts to meet their expectations, with reference to a set of priority actions for improvement,” the researchers concluded.


Genevaz D, Arnoux A, Marcel C, et al. Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities — the TENALYS study, a patient perspective surveyOrphanet J Rare Dis. 2022;17(1):68. doi:10.1186/s13023-022-02232-w