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.