Aims
Multiple Endocrine Neoplasia Type 1 (MEN1) is a hereditary tumour syndrome characterised by primary hyperparathyroidism, duodenopancreatic neuroendocrine tumours (pNETs), and pituitary adenomas(1). Given the chronic disease burden and lifelong surveillance requirements, patients with MEN1 are at risk of impaired health-related quality of life (HRQOL). This study aimed to assess HRQOL and cancer-specific distress in MEN1 patients and explore contributing factors.
Methods
This cross-sectional study recruited patients through the Hereditary Endocrine Neoplasia Clinic at Royal North Shore Hospital. Demographics were obtained from medical records. Participants completed the SF-36(2), Cancer Worry Scale (CWS)(3), and Impact of Event Scale–Revised (IES-R)(4). SF-36 scores were compared to Australian normative data. CWS and IES-R outcomes were compared with data from other hereditary cancer syndromes.
Results
Of 28 eligible patients, 24 (86%) completed the questionnaires. The cohort was mostly female (67%), with a mean (± standard deviation) age of 43(±15) years and mean duration of 16(±11) years since diagnosis. All had primary hyperparathyroidism, 67% had pNETs (50% receiving Lanreotide), and 38% had pituitary tumours. Compared to the general Australian population, MEN1 patients had significantly lower HRQOL across all SF-36 domains except Physical Functioning. Cancer-related worry was pronounced, with a mean CWS score of 19.5(±5.5). 91% scored ≥14, indicating significant fear of disease occurrence (FDO)–higher than rates reported in other hereditary cancer syndromes such as Li-Fraumeni, Von Hippel-Lindau, and familial adenomatous polyposis(5–7). IES-R mean score was 23.7(±18.4), suggesting mild distress overall, though 32% had scores ≥33, consistent with clinically significant post-traumatic stress symptoms. Intrusion was the highest scoring subdomain. HRQOL was lowest in patients with pNETs and post-parathyroidectomy hypocalcaemia.
Conclusion
Patients with MEN1 face significant psychosocial challenges, including impaired HRQOL and elevated cancer-specific worry. These findings highlight the need for integrated psychological support and routine mental health screening in multidisciplinary MEN1 care.