Introduction: Besides medullary thyroid carcinoma and other endocrinopathies, people with MEN 2B have intestinal ganglioneuromatosis. A recent MEN2B cohort study reported high rates of gastrointestinal (GI) symptoms: we hypothesized these might have a major impact on patients daily lives.
Methods: An online survey was conducted among patients from Association for Multiple Endocrine Neoplasia Disorders (AMEND). This incorporated relevant elements from clinical history plus 2 well-validated questionnaires: SAGIS assessment of GI symptoms on quality of life; PAC-QoL for the impact of constipation on daily activities.
Results: There were 85 respondents, MEN2B (n=28), MEN2A (n=57). In MEN2B, 85% reported two or more GI symptoms. Epigastric pain was reported by 92% (n=26), with 50% (n=14) scoring >7/28 in the SAGIS epigastric pain domain. Abdominal cramps were a problem for 71.4% (n=10) and half of these described cramps as very severe. Difficulties with swallowing affected 43% (n=12). Diarrhoea affected 82.1% (n=23), of whom half (n=11) had high calcitonin levels. There was a trend for higher SAGIS scores in MEN2B than MEN2A (not statistically significant in our small cohort). In MEN2B, constipation was a major problem, reported by 75% (n=21) with 38.8% (n=7) of these reporting a SAGIS score >10/12 in the constipation domain. In contrast, in MEN2A group, only one person (2.3%) scored >10/12. The effect of constipation on quality of life is severe in MEN2B; as measured by PAC-QOL. All patients reported dissatisfaction with their current treatment for constipation.
Conclusions: We report unmet needs of patients with MEN2B syndrome. The GI symptoms, especially constipation, had a severe impact on the quality of life in people with MEN2B. This suggests that there is room for improvement in the quality of care offered for these patients.