A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; p. 439
• Main Authors: Meier, Maartje E, Hagelstein-Rotman, Marlous, van de Ven, Annenienke C, Van der Geest, Ingrid C M, Donker, Olav, Pichardo, Sarina E C, Hissink Muller, Petra C E, van der Meeren, Stijn W, Dorleijn, Desirée M J, Winter, Elizabeth M, van de Sande, Michiel A J, Appelman-Dijkstra, Natasha M
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 17.12.2022; BioMed Central; BMC
• Subjects: Care and treatment; Care pathway; Chronic pain; Comorbidity; Critical Pathways; Diagnosis; Disease; Dysplasia; Female; Fibrous dysplasia; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Genetic aspects; Health aspects; Humans; Illnesses; McCune-Albright syndrome; Medical research; Mental health; Methods; Middle Aged; Multidisciplinary care; Mutation; Observational studies; Orthopedics; Outcome and process assessment (Health Care); Pain; Patients; Quality of Life; Questionnaires; Rare bone disease; Rare diseases; Tertiary referral hospital; Netherlands; McCune-Albright syndrome; Pain; Fibrous dysplasia; Multidisciplinary care; Tertiary referral hospital; Care pathway; Rare bone disease; Patient reported outcome measure; Quality of life
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02588-z

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) may cause pain, impaired ambulation and decreased quality of life (QoL). International guidelines advocate management of FD/MAS in a tertiary multidisciplinary care pathway, but no longitudinal data are available to support this recommendation. This multicenter prospective observational study aimed to evaluate effects of 1 year of treatment in the FD/MAS care pathway in 2 tertiary clinics on QoL and pain, assessed by change in Short Form 36 and Brief Pain Inventory between baseline and follow-up. Patients completing baseline questionnaires < 1 year after intake were classified as new referrals, others as under chronic care. 92 patients were included, 61 females (66%). 22 patients (24%) had monostotic disease, 16 (17%) isolated craniofacial FD, 27 (40%) polyostotic FD and 17 (19%) MAS. 26 were new referrals (28%) and 66 chronic patients (72%). Median age at baseline was 47 years (Q1-Q3 36-56). Skeletal burden correlated with baseline Physical Function (r  = - 0.281, p = 0.007). QoL was in all domains lower compared to the general population. New referrals reported clinically important differences (CID) over time in domains Physical Function (mean 67 ± SD24 to 74 ± 21, effect size (ES) 0.31, p = 0.020), Role Physical (39 ± 41 to 53 ± 43, ES 0.35, p = 0.066), Social Functioning (64 ± 24 to 76 ± 23, ES 0.49, p = 0.054), and Health Change (39 ± 19 to 53 ± 24, ES 0.76, p = 0.016), chronic patients in Physical Function (52 ± 46 to 66 ± 43, ES 0.31, p = 0.023) and Emotional Wellbeing (54 ± 27 to 70 ± 15, ES 0.59, p < 0.001). New referrals reported a CID of 1 point in maximum pain, average pain and pain interference, chronic patients reported stable scores. Change in pain interference and Role Physical were correlated (r  = - 0.472, p < 0.001). Patients with limited disease extent improved more than patients with severe disease. Patients receiving FD-related therapy had lower baseline scores than patients not receiving therapy and reported improvements in QoL after 1 year. Yet also patients without FD-related therapy improved in Physical Function. All FD-subtypes may induce pain and reduced QoL. A multidisciplinary care pathway for FD/MAS may improve pain and QoL, mainly in new referrals without MAS comorbidities with low baseline scores. Therefore, we recommend referral of patients with all subtypes of FD/MAS to specialized academic centers.