Impact of gastrointestinal symptoms on quality of life in MEN2

Abstract

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.

Functional gastrointestinal and somatoform symptoms five months after SARS‐CoV‐2 infection: A controlled cohort study

“…(1) The response rate to the questionnaire was far from optimal in particular for the control group and younger subjects, more prone to respond to an online survey, and female subjects perhaps more interested to take part in a study on functional for the assessment of the severity and impact of a wide spectrum of gastrointestinal and selected extraintestinal symptoms in an outpatient settings and, in comparison to other questionnaires, 49,50 it is characterized by a limited number of questions that better suit an internet-based survey, as already shown. 51 In conclusion, our study shows that acute SARS-CoV-2 infection may affect the brain-gut axis. Five months after the acute infection, mild gastroenterological symptoms persist, in particular in patients reporting diarrhea in the acute phase of the infection.…”

“…(6) A standardized questionnaire 25 was used, albeit not previously validated for an online survey on a target Italian population. However, this questionnaire has shown to represent a reliable valid tool for the assessment of the severity and impact of a wide spectrum of gastrointestinal and selected extraintestinal symptoms in an outpatient settings and, in comparison to other questionnaires, 49,50 it is characterized by a limited number of questions that better suit an internet‐based survey, as already shown 51 …”

RET Signaling Persists in the Adult Intestine and Stimulates Motility by Limiting PYY Release from Enteroendocrine Cells

“…These include multiple endocrine neoplasia type 2 (MEN2), irritable bowel syndrome (IBS), and cancer chemotherapy with RET kinase inhibitors 6,7 . In the postnatal mouse intestine, there are at least 3 cell types with important roles in homeostasis that are potentially vulnerable to disruptions in RET signaling: immune cells, epithelial cells and neurons.…”

“…Identifying these functions is crucial, not just for understanding the chronic complications of HSCR, but also for addressing the prominent gastrointestinal (GI) symptomatology in the many settings in which RET signaling is disrupted. These include multiple endocrine neoplasia type 2 (MEN2), irritable bowel syndrome (IBS), and cancer chemotherapy with RET kinase inhibitors 6,7 . In the postnatal mouse intestine, there are at least 3 cell types with important roles in homeostasis that are potentially vulnerable to disruptions in RET signaling: immune cells, epithelial cells and neurons.…”

Psychosocial Characteristics and Experiences in Patients with Multiple Endocrine Neoplasia Type 2 (MEN2) and Medullary Thyroid Carcinoma (MTC)

“…Psychological symptoms may include inability to concentrate, depression, or anxiety. As MTC in association with MEN 2 is an inheritable disease, unique psychosocial stresses associated with this disease have been noted as important to investigate [ 27 , 28 ].…”