INTRODUCTION Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome characterized by the triad of primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (pNETs), and pituitary tumors. Patients are confronted with substantial morbidity and are consequently at risk for an impaired quality of life (QOL). Meticulous assessment of QOL and associated factors in a representative population is needed to understand the full spectrum of the burden of the disease. PATIENTS AND METHODS A cross-sectional study was performed using the national Dutch MEN1 cohort. Patients with a confirmed MEN1 mutation received the SF-36 Health Related Quality of Life questionnaire and questions regarding sociodemographic and medical history. RESULTS A total of 227 of 285 (80%) eligible MEN1 patients returned the questionnaires. Health-related QOL scores (HRQOL) in MEN1 patients were significantly lower for the majority of subscales of the SF-36 in comparison with the general Dutch population. The most consistent predictor for HRQOL was employment status, followed by the presence of a pituitary tumor. 16% of patients harboring a pNET and 29% of patients with a pituitary tumor according to the medical records, reported that they were unaware of such a tumor. These subgroups of patients had several significant better QOL scores than patients who were aware of their pNET or pituitary tumors. CONCLUSION Patients with MEN1 have an impaired QOL in comparison with the general Dutch population warranting special attention within routine care. For daily practice, physicians should be aware of their patients' impaired QOL and of the impact of unemployment on QOL.

中文翻译：

---

1 型多发性内分泌肿瘤患者的健康相关生活质量。

引言 1 型多发性内分泌肿瘤 (MEN1) 是一种遗传性内分泌肿瘤综合征，其特征是原发性甲状旁腺功能亢进、十二指肠胰腺神经内分泌肿瘤 (pNET) 和垂体肿瘤的三联征。患者面临着大量的发病率，因此面临着生活质量 (QOL) 受损的风险。需要对代表性人群的 QOL 和相关因素进行细致评估，以了解疾病负担的全部范围。患者和方法 使用荷兰全国 MEN1 队列进行横断面研究。确诊 MEN1 突变的患者接受了 SF-36 健康相关生活质量问卷以及有关社会人口学和病史的问题。结果 共有 285 名 (80%) 符合条件的 MEN1 患者中有 227 名返回了问卷。与荷兰一般人群相比，MEN1 患者的健康相关 QOL 评分 (HRQOL) 在 SF-36 的大多数分量表中显着降低。HRQOL 最一致的预测因素是就业状况，其次是垂体瘤的存在。根据医疗记录，16% 的 pNET 患者和 29% 的垂体瘤患者报告说他们不知道这种肿瘤。这些患者亚组的 QOL 评分明显优于了解其 pNET 或垂体肿瘤的患者。结论 与一般荷兰人群相比，MEN1 患者的 QOL 受损，需要在常规护理中给予特别关注。在日常实践中，医生应该了解患者的 QOL 受损情况以及失业对 QOL 的影响。