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.