Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

backgroundThe process of transition from pediatric to adult care is crucial, especially in rare diseases such as lysosomal acid lipase deficiency (LAL-D). Unfortunately, this process is associated with poor outcomes, and many challenges still await to be addressed. This document provides recommendations on the pediatric to adult care transition in patients with LAL-D, based on available evidence and the experience of a panel of experts, which include specialists in the management of patients with LAL-D, and representative patients of the AELALD patient organization. Additionally, the main uncertainties and/or challenges encountered by the different stakeholders during the process are defined. MAIN BODY: A total of 43 consensus recommendations were developed across 5 areas. The consensus recommendations reflect the personal opinions and experiences of the participating experts supported with evidence when available. Overall, the main uncertainties and/or challenges faced comprise the patient's mistrust in the new medical team, the insufficient information received, or the lack of time, resources and institutional support. The management of adolescents/young adults during the transition to adulthood should be a joint effort between the patient, clinical center, and parents/caregivers. The objective of the transition process should be to empower patients and progressively encourage the self-management of their disease, and therefore patients and their families should be involved in all phases of the transition. Facilitating elements, such as standardized protocols, arose as important tools to ease the transition process.

conclusionsThis multidisciplinary consensus provides information on the main obstacles found by patients and their families, pediatricians and adult physicians during the transition from pediatric to adult care in LAL-D. To overcome these barriers, the scientific committee highlights the need for different facilitating elements, which include an effective collaboration between healthcare teams, the elaboration of standardized protocols, the implementation of education for patients, or the individual evaluation of the need for psychological support. The recommendations provided by the experts are the basis to facilitate and improve the transition process.