Transition of patients with mucopolysaccharidosis from paediatric to adult care

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.

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

“…The complex surgical procedures in MPS disorders require clinical expertise that can be limited in the adult care setting (23). Therefore, if an adult patient has not yet completed transition, and is still under some level of paediatric care, the MDT can assess if it would be most appropriate for the patient to remain in the paediatric setting during the perioperative and recovery periods, and for the surgery to be conducted by a paediatric team.…”

“…As patients with MPS reach adulthood, the responsibility for patient care is often transferred from paediatric to adult care teams, with the aim of allowing patients to become more independent and be more involved in treatment decisions if appropriate. (23) Although the transition process is a vital stage in supporting patients with MPS as they move towards increased independence, it is key to remember that patients have a progressive disease and the establishment of appropriate, individualised care plans in the adult setting is of great importance. Furthermore, an increasing number of patients with MPS are having children (24,25).…”

Critical clinical situations in adult patients with Mucopolysaccharidosis (MPS)

“…As patients with MPS reach adulthood, the responsibility for patient care is often transferred from paediatric to adult care teams, with the aim of allowing patients to become more independent and be more involved in treatment decisions if appropriate. (22) Although the transition process is a vital stage in supporting patients with MPS as they move towards increased independence, it is key to remember that patients have a progressive disease and the establishment of appropriate, individualised care plans in the adult setting is of great importance. Furthermore, an increasing number of patients with MPS are having children (23,24).…”

“…As MPS disorders have historically been considered paediatric diseases, the patient's adult care multidisciplinary team (MDT) may have less experience in managing the broad spectrum of potential critical clinical situations compared with paediatric colleagues. The continued involvement of paediatric specialists in the care of adults with MPS allows not only the provision of guidance and practical experience of the challenges of MPS, but also access to paediatric surgical equipment, which may be more suitable for adult MPS patients of small stature (4,20,22). Even within an adult metabolic setting, the rarity of MPS disorders and the high risk and low frequency of the surgical procedures in patients with MPS may limit opportunities for MDTs to gain practical experience of treating adults with MPS.…”

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

“…As patients with MPS reach adulthood, the responsibility for patient care is often transferred from paediatric to adult care teams, with the aim of allowing patients to become more independent and be more involved in treatment decisions if appropriate [23]. Although the transition process is a vital stage in supporting patients with MPS as they move towards increased independence, it is key to remember that patients have a progressive disease and the establishment of appropriate, individualised care plans in the adult setting is of great importance.…”