Denoix Elsa, Bomahou Charlène, Clavier Lorraine, Ribeil Jean-Antoine, Lionnet François, Bartolucci Pablo, Courbebaisse Marie, Pouchot Jacques, Arlet Jean-Benoît
Internal Medicine Department, Sickle Cell Referral Center, Georges Pompidou European Hospital, Assistance Publique-Hôpitaux de Paris, 20 rue Leblanc, 75015 Paris, France.
Faculté de Médecine Paris Descartes, Université de Paris, 75015 Paris, France.
J Clin Med. 2020 Jan 22;9(2):308. doi: 10.3390/jcm9020308.
Primary hyperparathyroidism (pHPT) is the third most common endocrine disorder and usually affects patients between 60 and 70 years of age. To our knowledge, this condition has never been studied in young patients with sickle cell disease (SCD). Our objective was to describe the clinical and biological characteristics of pHPT in adult patients with SCD and its management. We conducted a retrospective study that included SCD patients who were diagnosed with pHPT in four SCD referral centers. pHPT was defined by the presence of elevated serum calcium levels with inappropriate normal or increased parathyroid hormone (PTH) serum levels or histopathological evidence of parathyroid adenoma or hyperplasia. Patients with severe renal impairment (GFR <30 mL/min) were excluded. Twenty-eight patients (18 women, 64%; 22 homozygous genotype, 79%) were included. The median age at pHPT diagnosis was 41 years (interquartile range -IQR- 31.5-49.5). The median serum calcium and PTH concentration were, respectively, 2.62 mmol/L (IQR 2.60-2.78) and 105 pg/mL (IQR 69-137). Bone mineral density (BMD) revealed very low BMD (-2.5 SD) in 44% of patients explored (vs. 12.5% among 32 SCD patients matched for SCD genotype, sex, age, and BMI, = 0.03). Fourteen patients (50%) received surgical treatment, which was successful in all cases, but four of these patients (29%) presented with pHPT recurrence after a median time of 6.5 years. Three of these patients underwent a second cervical surgery that confirmed the presence of a new parathyroid adenoma. These results suggest that SCD is a condition associated with pHPT in young subjects. SCD patients with pHPT have a high risk of very low BMD. A diagnosis of pHPT should be suspected in the presence of mild hypercalcemia or low BMD in SCD patients.
原发性甲状旁腺功能亢进症（pHPT）是第三常见的内分泌疾病，通常影响60至70岁的患者。据我们所知，尚未对患有镰状细胞病（SCD）的年轻患者进行过该疾病的研究。我们的目的是描述成年SCD患者中pHPT的临床和生物学特征及其治疗方法。我们进行了一项回顾性研究，纳入了在四个SCD转诊中心被诊断为pHPT的SCD患者。pHPT的定义为血清钙水平升高且甲状旁腺激素（PTH）血清水平正常或升高不适当，或有甲状旁腺腺瘤或增生的组织病理学证据。排除严重肾功能损害（肾小球滤过率<30 mL/分钟）的患者。纳入了28例患者（18例女性，64%；22例纯合子基因型，79%）。pHPT诊断时的中位年龄为41岁（四分位间距-IQR- 31.5-49.5）。血清钙和PTH浓度的中位数分别为2.62 mmol/L（IQR 2.60-2.78）和105 pg/mL（IQR 69-137）。骨密度（BMD）显示，在接受检查的患者中有44%的患者骨密度极低（-2.5标准差）（相比之下，在32例与SCD基因型、性别、年龄和体重指数匹配的SCD患者中为12.5%，P = 0.03）。14例患者（50%）接受了手术治疗，所有病例均成功，但其中4例患者（29%）在中位时间6.5年后出现pHPT复发。其中3例患者接受了第二次颈部手术，证实存在新的甲状旁腺腺瘤。这些结果表明，SCD是年轻受试者中与pHPT相关的一种疾病。患有pHPT的SCD患者骨密度极低的风险很高。在SCD患者出现轻度高钙血症或低骨密度时，应怀疑pHPT的诊断。
