LAUSR

Mucopolysaccharidoses (MPS) are rare disorders associated with enzyme deficiencies, resulting in glycosaminoglycan (GAG) accumulation in multiple organ systems. Because of improvements to the diagnosis and treatment of MPS, patients are increasingly surviving to adulthood, and a smooth transition into adult care is essential. We present transition challenges and resolutions through case studies and share best practice strategies in order to optimise transition for MPS patients. Six cases were provided by four leading European metabolic disease centres, including patients with MPS I, II, IIIC and VI, aged 15-18 years at first transition visit (age at transfer to adult care: 16-19 years). Transition processes were based on national guidelines and institutional regulations. Strategies varied in duration of transition periods, healthcare providers involved and methods used to support the patient and monitor their readiness for transfer to adult care. At one centre, adult care was coordinated in a paediatric setting at others, patient care was transferred from paediatric- to adult-care teams in different hospital departments or at different sites. Challenges included attachment to paediatricians and unwillingness to attend appointments with unfamiliar healthcare professionals. Limited knowledge of MPS in adult-care teams also concerned patients and parents. Challenges were resolved by preparing for transfer at an early stage, regularly communicating with and reassuring the patient and family, coordinating the process through MPS experts, and including multidisciplinary input from MPS adult-care experts. These cases highlight the strategies that can be employed to manage transfer from paediatric to adult care. Transition plans should be comprehensive but flexible to accommodate each patient’s needs. Sufficient time should be provided to allow patients to understand the process and how the adult-care system differs from the paediatric setting. Effective communication between adult and paediatric teams, as well as between patients and carers, is key to ensuring a smooth transition.