Abstract:
Mucopolysaccharidoses (MPS) are rare disorders associated with enzyme deficiencies, resulting in glycosaminoglycan
(GAG) accumulation in multiple organ systems. As patients increasingly survive to adulthood, the need
for a smooth transition into adult care is essential. Using case studies, we outline strategies and highlight the
challenges of transition, illustrating practical solutions that may be used to optimise the transition process for
patients with MPS disorders.
Seven MPS case studies were provided by four European inherited metabolic disease centres; six of these
patients transferred to an adult care setting and the final patient remained under paediatric care. Of the patients
who transferred, age at the start of transition ranged between 14 and 18 years (age at transfer ranged from 16 to
19 years).
While there were some shared features of transition strategies, they varied in duration, the healthcare professionals
involved and the management of adult patients with MPS. Challenges included complex symptoms,
patients' unwillingness to attend appointments with unfamiliar team members and attachment to paediatricians.
Challenges were resolved by starting transition at an early age, educating patients and families, and providing
regular communication with and reassurance to the patient and family. Sufficient time should be provided to
allow patients to understand their responsibilities in the adult care setting while feeling assured of continued
support from healthcare professionals. The involvement of a coordinated multidisciplinary team with expertise
in MPS is also key. Overall, transition strategies must be comprehensive and individualised to patients' needs.
