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肢端肥大症:诊断挑战与个体化治疗

Acromegaly: diagnostic challenges and individualized treatment.

作者信息

Freda Pamela U

机构信息

Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.

出版信息

Expert Rev Endocrinol Metab. 2025 Jan;20(1):63-85. doi: 10.1080/17446651.2024.2448784. Epub 2025 Jan 5.

Abstract

INTRODUCTION

Acromegaly is due in almost all cases to a GH-secreting pituitary tumor. GH and IGF-1 excesses lead to its multi-system clinical manifestations and comorbidities. Acromegaly is under-diagnosed and typically presents with advanced disease. When early or mild, clinical recognition and biochemical confirmation are especially challenging. Individualized treatment may optimize patient outcome.

AREAS COVERED

This review covers challenges to diagnosing acromegaly and reviews therapies for acromegaly with a focus on those aspects that can be individualized.

EXPERT OPINION

The first step in diagnosing acromegaly is recognizing it clinically. To improve this, increase awareness and education of the general population and healthcare professionals about the acromegaly phenotype is needed. Once suspected clinically, IGF-1 measurement is the initial step in making the biochemical diagnosis. GH may be < 1.0 µg/L after oral glucose suppression in early/mild cases. GH and IGF-1 should be considered in concert. Providers should be aware of conditions that can alter GH and IGF-1 levels and each assay's performance. An individualized treatment approach is best employed. Surgery is preferred as initial treatment and medical therapy as initial adjuvant therapy. In individualizing therapy, the advantages and disadvantages of each option and predictors of response to them should be considered.

摘要

引言

几乎所有肢端肥大症病例都是由分泌生长激素的垂体肿瘤引起的。生长激素(GH)和胰岛素样生长因子-1(IGF-1)过量导致其多系统临床表现和合并症。肢端肥大症诊断不足,通常在疾病晚期才出现症状。在疾病早期或症状较轻时,临床识别和生化确诊尤其具有挑战性。个体化治疗可优化患者预后。

涵盖领域

本综述涵盖肢端肥大症诊断方面的挑战,并对肢端肥大症的治疗方法进行综述,重点关注可个体化的方面。

专家观点

肢端肥大症诊断的第一步是临床识别。为改善这一情况,需要提高普通人群和医疗保健专业人员对肢端肥大症表型的认识和教育。一旦临床怀疑,IGF-1测量是进行生化诊断的第一步。在早期/轻度病例中,口服葡萄糖抑制后GH可能<1.0μg/L。应综合考虑GH和IGF-1。医疗服务提供者应了解可能改变GH和IGF-1水平的情况以及每种检测方法的性能。最好采用个体化治疗方法。手术首选作为初始治疗,药物治疗作为初始辅助治疗。在个体化治疗时,应考虑每种选择的优缺点以及对其反应的预测因素。

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