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 multiple endocrine neoplasia Type 2b (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 (interquartile range [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.

Impact of gastrointestinal symptoms on quality of life in MEN2.

CONTEXT: Besides medullary thyroid carcinoma and other endocrinopathies, people with Multiple Endocrine Neoplasia Type 2 (MEN2) are at risk of gastrointestinal (GI) symptoms. OBJECTIVE: To investigate the impact of GI symptoms on the daily lives of patients with MEN2. DESIGN: An online survey was conducted among patients with MEN2 via the Association for Multiple Endocrine Neoplasia Disorders (AMEND). METHODS: The survey incorporated two validated questionnaires for the assessment of GI symptoms (SAGIS, PAC-QoL). PARTICIPANTS: There were 91 respondents, MEN2A (n = 57), MEN2B (n = 34). RESULTS: People in the MEN2A group reported a high level of GI symptoms, the most prevalent being abdominal pain 85% (n = 49), diarrhoea 85% (n = 49) and constipation 75% (n = 43) with one patient having a SAGIS score > 10/12 in the constipation domain. People in the MEN2B group reported constipation in 79% (n = 27) with one quarter of these scoring > 10/12 in the constipation domain. Other GI symptoms included diarrhoea 62% (n = 21), excessive gas and flatulence (79%), epigastric pain (59%) abdominal cramps (76%) and dysphagia (41%). The effect of constipation on quality of life was severe in all MEN2 patients as measured by PAC-QOL and all patients reported dissatisfaction of with their current treatment for constipation. There was a trend towards higher severity of GI symptoms in MEN2B. CONCLUSIONS: We report unmet needs of patients with MEN2 syndromes. The GI symptoms, especially constipation, had a severe impact on quality of life in people with MEN2. This suggests that there is room for improvement in the quality of care offered for these patients.

Patient quality of life and prognosis in multiple endocrine neoplasia type 2.

Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal-dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid cancer (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing. Nevertheless, metastatic MTC, ganglioneuromatosis and a variety of other negative clinical and psychosocial impacts on quality of life and/or prognosis in MEN2 persist. In the absence, at the time of writing, of any large-scale research into quality of life specifically in MEN2, this review includes data from patient surveys and anonymised patient anecdotes from the records of the Association for Multiple Endocrine Neoplasia Disorders (AMEND), for whom the authors work. We recommend that these patients are cared for only in centres of expertise able to provide expert diagnosis, treatment and continuity of care, including psychological and transition support. Only in this way can the clinical advances of the last two and half decades be built upon further to ensure that the care of these complex, lifelong patients can be considered truly holistic.