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Frequency and impact of musculoskeletal symptoms on quality of life in MEN2B.

OBJECTIVE
To investigate the impact of musculoskeletal (MSK) related symptoms on the quality of life of patients with MEN2B.


DESIGN
An online survey was distributed by the Association for Multiple Endocrine Neoplasia Disorders (AMEND) to their members and worldwide via a social media group for MEN2B patients.


METHODS
The survey consisted of a detailed questionnaire analysing the MSK related symptoms and structural deformities of MEN2B patients and their impact on patient's lives.


PARTICIPANTS
Forty-eight participants completed the survey.


RESULTS
Participants reported several musculoskeletal complaints; the most prevalent being musculoskeletal weakness at 73% (n=35) and pain 58% (n=28). The median pain score was 7 (IQR 5-8) and the frequency of pain was daily in 44% (n=15) and constant in 21% (n=7). Structural complaints were common with 63% (n=30) stating their physique was 'different' and 40% (n=19) describing marfanoid body features. Spinal curvature and foot deformities were the commonest structural abnormalities with scoliosis 70% (n= 16) and pes cavus 63% (n=22) prevailing. Dental problems were mentioned by 69% (n=33) with interdental spacing being the most common complaint at 61% (n=20). The musculoskeletal symptoms of MEN2B had a median impact of 6 (IQR 3-9) on quality of life (QOL) with structural deformities 53% (n=18) and pain 26% (n=9) listed as having the highest impact. Poor MSK health affected exercise, work, and mobility.


CONCLUSIONS
We report a high prevalence of musculoskeletal related complaints in MEN2B which significantly affects QOL. This suggests a need to provide better holistic care including a multidisciplinary team with physiotherapist, orthopaedic and dental specialist input. This article is protected by copyright. All rights reserved.