Yavropoulou Maria P, Vlachou Sofia, Tsoli Marina, Fostira Florentia, Kaltsas Gregory, Kassi Eva
Endocrinology Unit, First Department of Propaedeutic and Internal Medicine, Centre of Expertise for Rare Endocrine Disease (C.E.R.E.D.), Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Molecular Diagnostics Laboratory, National Center for Scientific Research "Demokritos", Institute of Nuclear & Radiological Sciences & Technology, Energy & Safety, 15341 Athens, Greece.
J Clin Med. 2022 Apr 1;11(7):1967. doi: 10.3390/jcm11071967.
Primary hyperparathyroidism (PHPT) in the most common and earliest manifestation of multiple endocrine neoplasia type-1 (MEN1). Epidemiological data have been reported in MEN1 patients but data on long-term follow-up focusing on PHPT are scarce.
In this retrospective cohort study, we included patients diagnosed with MEN1-related PHPT that were under regular follow-up in our institution.
Data on 68 patients (39 males), with a mean age at MEN1-diagnosis of 39 ± 13.06 years, were analyzed. Pancreatic neuroendocrine tumors were encountered in 82% (71% nonsecreting) followed by pituitary adenomas in 66% (49% nonsecreting). Mean age at PHPT diagnosis was 35.2 ± 4.0 years. Parathyroidectomy was performed in 57 patients (82.3%), of whom 56% achieved long-term remission, while 12.2% and 31.5% had persistent and recurrent disease, respectively (median follow-up of 4 years; range 1-21 years). Cinacalcet restored serum calcium levels in 33.8%, both as first and as a second line treatment. Permanent hypoparathyroidism occurred in 19.2%. pathogenic variants were identified in 77.2% of the tested individuals, but no genotype-phenotype associations were reported.
MEN1-related PHPT involves a multiglandular disease and its management remains a therapeutic challenge, as recurrent disease can develop even after 20 years of follow-up. Prolonged follow-up of these patients at referral centers is critical for their optimal management.
原发性甲状旁腺功能亢进症（PHPT）是多发性内分泌腺瘤1型（MEN1）最常见和最早出现的表现。已有关于MEN1患者的流行病学数据报道，但针对PHPT的长期随访数据却很稀少。
在这项回顾性队列研究中，我们纳入了在我们机构接受定期随访、被诊断为与MEN1相关的PHPT患者。
分析了68例患者（39例男性）的数据，其MEN1诊断时的平均年龄为39±13.06岁。82%的患者出现胰腺神经内分泌肿瘤（其中71%为无功能性），其次是66%的患者出现垂体腺瘤（其中49%为无功能性）。PHPT诊断时的平均年龄为35.2±4.0岁。57例患者（82.3%）接受了甲状旁腺切除术，其中56%实现了长期缓解，而分别有12.2%和31.5%的患者疾病持续存在和复发（中位随访4年；范围1 - 21年）。西那卡塞作为一线和二线治疗均使33.8%的患者血清钙水平恢复正常。19.2%的患者发生永久性甲状旁腺功能减退。77.2%的受检个体检测到致病变异，但未报告基因型与表型的关联。
与MEN1相关的PHPT是一种多腺体疾病，其治疗仍然是一项治疗挑战，因为即使在随访20年后仍可能发生疾病复发。在转诊中心对这些患者进行长期随访对于其最佳治疗至关重要。
