Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Department of Medicine, Örebro University Hospital, Örebro, Sweden.
J Intern Med. 2018 Feb;283(2):190-199. doi: 10.1111/joim.12699. Epub 2017 Nov 3.
Early detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life-threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well-described, but methodical investigations are scarce.
Perform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD.
A multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978-2016. Scrutiny of medical records provided patient data and laboratory values.
Low sodium occurred in 207 of 247 (84%), but only one-third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty-three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Serum cortisol was consistently decreased (median 62 nmol L [1-668]) and significantly lower in individuals with adrenal crisis (38 nmol L [2-442]) than in those without (81 nmol L [1-668], P < 0.001).
The most consistent biochemical finding of untreated AAD was low sodium independent of the degree of glucocorticoid deficiency. Half of the patients had elevated TSH levels. Only a minority presented with marked hyperkalaemia or other nonhormonal abnormalities. Thus, unexplained low sodium and/or elevated TSH should prompt consideration of an undiagnosed AAD, and on clinical suspicion bring about assay of cortisol and ACTH. Presence of 21-hydroxylase autoantibodies confirms autoimmune aetiology. Anticipating additional abnormalities in routine blood tests may delay diagnosis.
早期发现自身免疫性艾迪生病（AAD）很重要，因为诊断延迟可能导致危及生命的肾上腺危象和死亡。未经治疗的 AAD 的典型临床特征已有详细描述，但系统研究却很少。
对患者病历进行回顾性审核，旨在确定用于早期诊断 AAD 的生化标志物。
这是一项在挪威和瑞典的医院进行的多中心回顾性研究，共纳入了 1978 年至 2016 年间诊断为 AAD 的 272 例患者。对病历的审查提供了患者数据和实验室值。
247 例中的 207 例（84%）出现低钠血症，但只有三分之一的患者出现高钾血症。其他常见的非内分泌检查大多正常。153 例患者中有 79 例 TSH 升高，10 例患者出现低血糖。33%的患者在发生肾上腺危象后被诊断出来，而这些患者的电解质紊乱更为明显（P<0.001）。血清皮质醇持续降低（中位数 62 nmol/L[1-668]），且在发生肾上腺危象的个体中明显低于未发生危象的个体（38 nmol/L[2-442]，P<0.001）。
未经治疗的 AAD 最一致的生化发现是低钠血症，与糖皮质激素缺乏的程度无关。一半的患者 TSH 水平升高。只有少数患者出现明显的高钾血症或其他非激素异常。因此，不明原因的低钠血症和/或 TSH 升高应提示考虑未诊断的 AAD，并在临床怀疑时进行皮质醇和 ACTH 检测。21-羟化酶自身抗体的存在可证实自身免疫病因。预计常规血液检查中出现额外的异常可能会延迟诊断。
