GI symptoms negatively affect quality of life in multiple endocrine neoplasia type 2
More than half of patients with multiple endocrine neoplasia type 2, or MEN2, reported abdominal pain, diarrhea and constipation, and said gastrointestinal symptoms negatively affect their quality of life, according to survey data.
“This study provided an in-depth view of the long-standing issue of gastrointestinal (GI) symptoms in MEN2 patients under the care of different centers,” Maralyn Druce, MA, MBBS, PhD, MMed, FRCP, professor of endocrine medicine at the Barts and the London School of Medicine, and colleagues wrote in a study published in Clinical Endocrinology. “We incorporated a mixed-methods design by using well-validated GI questionnaires and a thematic analysis.”
Researchers created a survey regarding GI symptoms for people with MEN2 from two GI questionnaires. The Structured Assessment of Gastrointestinal Symptoms Scale (SAGIS) measures epigastric pain, constipation, diarrhea, nausea and vomiting, and gas and flatulence using a 4-point Likert scale. The Patient Assessment of Constipation Quality of Life (PAC-QoL) assesses physical discomfort, psychological discomfort, worries and concerns, and satisfaction, with a lower score indicating a better quality of life. Participants were recruited through the Association for Multiple Endocrine Neoplasia Disorders’ social media channels. All respondents were presented with questions from SAGIS, but only those who reported having constipation received the PAC-QoL portion of the survey.
There were 137 responses, of which 91 completed the SAGIS questionnaire and 47 went on to complete PAC-QoL. There were 76 initial participants with MEN2A (median age, 48.1 years) and 61 with MEN2B (median age, 31.9 years). Four children aged 5 to 18 years were in the MEN2A group, and 17 children were in the MEN2B cohort. There were 15 countries represented in the study population, with 38% coming from the United States and 37% from the United Kingdom.
GI symptoms common in MEN2
More than 70% of MEN2A participants reported loose stools, bloating and excessive gas and flatulence, whereas more than 70% in the MEN2B group reported pain or discomfort before defecation, difficulty defecating, loose stools, abdominal cramps, bloating and excessive gas and flatulence. A higher proportion of participants in the MEN2B group reported more severe constipation (79% vs. 75%), abdominal cramps (76% vs. 61%) and excessive gas and flatulence (94% vs. 74%) compared with the MEN2A cohort.
About 70% of participants in both groups reported at least moderate upper GI symptoms. The prevalence of severe to very severe dysphagia was higher in the MEN2B group compared with MEN2A (21% vs. 12%). Severe loss of appetite was reported by 18% of respondents in the MEN2B group and 11% in MEN2A, according to the study.
The MEN2B cohort had more than double the prevalence of severe to very severe abdominal cramps (35% vs. 15%) and severe bloating (50% vs. 22%) compared with the MEN2A cohort. Moderate to very severe diarrhea was reported by 41% of MEN2B participants and 32% of the MEN2A cohort. Diarrhea and constipation were reported by 75% of those in MEN2A and 71% in MEN2B, with 38% in MEN2B and 26% in MEN2A reporting at least moderate constipation.
Quality of life affected by constipation
The quality of life portion of the survey was completed by 26 people in the MEN2A group and 21 in the MEN2B cohort. About 80% of participants in both groups reported feeling upset about their constipation; 81% of MEN2A participants and 66% of MEN2B respondents said they felt embarrassed to spend a long time in the bathroom when away from home. About two-thirds of participants reduced the amount of food they ate due to constipation. Twenty-seven percent of the MEN2A group and 52% of MEN2B said they were “not at all satisfied” with their bowel function, and all respondents were dissatisfied with their current constipation treatment. Depression was reported by 38% of the MEN2A group and 44% in the MEN2B cohort.
“Constipation severely impaired the physical, psychological and social functioning of the patients with both MEN2 syndromes,” the researchers wrote. “The normalized mean score of the PAC-QoL was 2.09, which is much higher than that reported elsewhere for patients with severe functional chronic constipation. The patients report that their current treatments for GI symptoms do not provide sufficient relief.”
The researchers said future studies assessing the GI tract and conducting histochemical investigations could clarify how those with specific MEN2 mutations should be classified based on phenotype, and it could help researchers optimize treatment to improve quality of life.