Purpose

Ectopic Cushing Syndrome (EAS) is a rare condition responsible for about 5–20% of all Cushing syndrome cases. It increases the mortality of affected patients thus finding and removal of the ACTH-producing source allows for curing or reduction of symptoms and serum cortisol levels. The aim of this study is to present a 20-year experience in the diagnosis and clinical course of patients with EAS in a single Clinical Centre in Southern Poland as well as a comparison of clinical course and outcomes depending on the source of ectopic ACTH production–especially neuroendocrine tumors with other neoplasms.

Methods

Twenty-four patients were involved in the clinical study with EAS diagnosed at the Department of Endocrinology between years 2000 and 2018. The diagnosis of EAS was based on the clinical presentation, hypercortisolemia with high ACTH levels, high dose dexamethasone suppression test and/or corticotropin-releasing hormone tests. To find the source of ACTH various imaging studies were performed.

Results

Half of the patients were diagnosed with neuroendocrine tumors, whereby muscle weakness was the leading symptom. Typical cushingoid appearance was seen in merely a few patients, and weight loss was more common than weight gain. Patients with neuroendocrine tumors had significantly higher midnight cortisol levels than the rest of the group. Among patients with infections, we observed a significantly higher concentrations of cortisol 2400 levels in gastroenteropancreatic neuroendocrine tumors. Chromogranin A correlated significantly with potassium in patients with neuroendocrine tumors and there was a significant correlation between ACTH level and severity of hypokalemia.

Conclusion

EAS is not common, but if it occurs it increases the mortality of patients; therefore, it should be taken into consideration in the case of coexistence of severe hypokalemia with hypertension and muscle weakness, especially when weight loss occurs. Because the diagnosis of gastroenteropancreatic neuroendocrine tumor worsens the prognosis-special attention should be paid to these patients.

中文翻译：

---

不同起源的异位ACTH综合征——诊断方法和临床结果。单一临床中心的经验

 目的

异位库欣综合征 (EAS) 是一种罕见疾病，约占所有库欣综合征病例的 5-20%。它增加了受影响患者的死亡率，因此找到并去除 ACTH 产生源可以治愈或降低症状和血清皮质醇水平。本研究的目的是展示波兰南部单一临床中心 20 年 EAS 患者诊断和临床病程的经验，以及根据异位 ACTH 产生来源对临床病程和结果进行比较 -尤其是神经内分泌肿瘤和其他肿瘤。

 方法

2000年至2018年间，24名患者参与了在内分泌科诊断为EAS的临床研究。EAS的诊断基于临床表现、高皮质醇血症伴高ACTH水平、大剂量地塞米松抑制试验和/或促肾上腺皮质激素-释放激素测试。为了找到 ACTH 的来源，进行了各种成像研究。

 结果

一半患者被诊断患有神经内分泌肿瘤，其中肌肉无力是主要症状。仅少数患者出现典型的库欣样外观，体重减轻比体重增加更常见。神经内分泌肿瘤患者的午夜皮质醇水平明显高于其他患者。在感染患者中，我们观察到胃肠胰神经内分泌肿瘤中皮质醇 2400 浓度显着升高。神经内分泌肿瘤患者中嗜铬粒蛋白 A 与钾显着相关，ACTH 水平与低钾血症严重程度也显着相关。

 结论

EAS 并不常见，但一旦发生就会增加患者的死亡率；因此，严重低钾血症与高血压、肌无力并存的情况下，特别是体重减轻时，应予以考虑。因为胃肠胰神经内分泌肿瘤的诊断会使预后恶化——这些患者应特别注意。