Meng Jassy, Aboznadah Wedyan M, Pusztaszeri Marc, Larouche Vincent
Endocrinol Diabetes Metab Case Rep. 2024 Dec 19;2024(4). doi: 10.1530/EDM-24-0054. Print 2024 Oct 1.
Primary hyperparathyroidism (PHPT) is a disorder in which excessive parathyroid hormone (PTH) is secreted from the parathyroid glands. The cause of PHPT is most commonly parathyroid lesions such as parathyroid adenoma. The clinical manifestations of PHPT include hypercalcemia, nephrolithiasis, bone disease and rarely pathological fractures and brown tumors, which arise within the foci of osteitis fibrosa. Brown tumors are benign intraosseous tumors that occur because of excessive osteoclast activity. Because of advances in medical care, early diagnosis and treatment have meant that diagnosing PHPT in the setting of multiple brown tumors is particularly rare. Here, we present a case of a young man with prolonged PHPT from a giant parathyroid adenoma with multiple brown tumors causing pathological fractures. Definitive treatment of PHPT is parathyroidectomy with particular attention to the risks for hungry bone syndrome (HBS) postoperatively.
Pathological fractures from brown tumors are a rare but significant concern in prolonged PHPT, and a multidisciplinary approach is required including orthopedic surgery, otolaryngology and endocrinology.It is important to assess PTH and calcium in the context of hypercalcemia with bone lesions to avoid potential diagnostic delays.Postoperative parathyroidectomy patients with large parathyroid adenomas, elevated alkaline phosphatase, elevated PTH and the presence of brown tumors are at particularly high risk for HBS.Very high levels of PTH, calcium, alkaline phosphatase and multiple brown tumors should raise concern for a potential case of parathyroid carcinoma.Indications for genetic testing for inheritable parathyroid disease include patients younger than 30 years old, those with multigland disease, those with a family history of hypercalcemia or syndromic disease and those with atypical parathyroid adenoma and parathyroid carcinoma.
原发性甲状旁腺功能亢进症（PHPT）是一种甲状旁腺分泌过多甲状旁腺激素（PTH）的疾病。PHPT的病因最常见的是甲状旁腺病变，如甲状旁腺腺瘤。PHPT的临床表现包括高钙血症、肾结石、骨病，很少出现病理性骨折和棕色瘤，棕色瘤出现在纤维性骨炎病灶内。棕色瘤是由于破骨细胞活动过度而发生的良性骨内肿瘤。由于医疗水平的进步，早期诊断和治疗意味着在出现多个棕色瘤的情况下诊断PHPT极为罕见。在此，我们报告一例年轻男性，因巨大甲状旁腺腺瘤导致长期PHPT，并伴有多个棕色瘤引起病理性骨折。PHPT的确定性治疗是甲状旁腺切除术，术后需特别关注饥饿骨综合征（HBS）的风险。
棕色瘤导致的病理性骨折在长期PHPT中虽罕见但值得关注，需要包括骨科手术、耳鼻喉科和内分泌科在内的多学科方法。在存在骨病变的高钙血症情况下评估PTH和钙很重要，以避免潜在的诊断延误。术后甲状旁腺切除的患者，如果甲状旁腺腺瘤大、碱性磷酸酶升高、PTH升高且存在棕色瘤，则发生HBS的风险特别高。PTH、钙、碱性磷酸酶水平极高且有多个棕色瘤应引起对甲状旁腺癌潜在病例的关注。遗传性甲状旁腺疾病基因检测的指征包括30岁以下的患者、有多腺体疾病的患者、有高钙血症或综合征疾病家族史的患者以及有非典型甲状旁腺腺瘤和甲状旁腺癌的患者。
