Mobarak Shahd, Tarazi Munir, Spiers Harry, Santhakumar Anjali, Forgacs Bence
Department of Transplant and Endocrine Surgery, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Department of Endocrinology, Macclesfield District General Hospital, East Cheshire NHS Trust, Macclesfield, United Kingdom.
Front Surg. 2020 Jun 16;7:30. doi: 10.3389/fsurg.2020.00030. eCollection 2020.
Hypercalcaemia can be caused by many disorders. Primary hyperparathyroidism is the leading cause with parathyroidectomy being the definitive management. Familial hypocalciuric hypercalcaemia is a rarer cause in which resection of the parathyroid tissue does not result in normalized serum calcium. We report the unusual case of a 53-year-old lady who presented with hypercalcaemia and elevated parathyroid hormone with a presumed diagnosis of primary hyperparathyroidism. She remained hypercalcaemic after parathyroidectomy and was later diagnosed with familial hypocalciuric hypercalcaemia. During the first operation, a lymph node was also removed, and the histopathology report suggested a metastasis of follicular variant papillary thyroid carcinoma (FVPTC). After multi-disciplinary team (MDT) discussion, the patient underwent a second exploration where total thyroidectomy and removal of the other parathyroid glands were performed. Hypercalcaemia completely resolved on surgical resection of the thyroid and parathyroid tissue, however histopathology revealed normal parathyroid glands and florid Hashimoto's thyroiditis. The initial diagnosis of FVPTC in the lymph node was revisited and the final histopathology report suggested an accessory thyroid nodule with florid Hashimoto's thyroiditis mimicking a lymph node. Our case demonstrates the diagnostic dilemma in hypercalcaemia that may lead a patient to undergo unnecessary invasive procedures; the misdiagnosis of FVPTC after the first operation resulted in a second more extensive procedure. Patients with no clear surgical target and urine CCCR in the gray/non-diagnostic area should be routinely offered genetic testing despite negative family history.
高钙血症可由多种疾病引起。原发性甲状旁腺功能亢进是主要病因，甲状旁腺切除术是确定性治疗方法。家族性低钙尿性高钙血症是一种较罕见的病因，切除甲状旁腺组织并不能使血清钙恢复正常。我们报告了一例不寻常的病例，一名53岁女性出现高钙血症和甲状旁腺激素升高，初步诊断为原发性甲状旁腺功能亢进。甲状旁腺切除术后她仍有高钙血症，后来被诊断为家族性低钙尿性高钙血症。在第一次手术中，还切除了一个淋巴结，组织病理学报告提示为滤泡型乳头状甲状腺癌（FVPTC）转移。经过多学科团队（MDT）讨论，患者接受了第二次探查，进行了全甲状腺切除术和切除其他甲状旁腺。切除甲状腺和甲状旁腺组织后高钙血症完全缓解，但组织病理学显示甲状旁腺正常，并有明显的桥本甲状腺炎。重新审视了淋巴结中FVPTC的最初诊断，最终组织病理学报告提示为一个副甲状腺结节，伴有明显的桥本甲状腺炎，酷似淋巴结。我们的病例展示了高钙血症诊断中的困境，这可能导致患者接受不必要的侵入性手术；第一次手术后FVPTC的误诊导致了第二次更广泛的手术。对于没有明确手术靶点且尿CCCR处于灰色/非诊断区域的患者，即使家族史阴性，也应常规进行基因检测。
