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肢端肥大症:“你必须了解它,才能想到它”。

Acromegaly: 'You must know it to think of it'.

机构信息

Endocrine Division (SEMPR), Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Parana, Curitiba, Brazil.

出版信息

Eur J Endocrinol. 2020 Jul;183(1):C1-C4. doi: 10.1530/EJE-20-0281.

DOI:10.1530/EJE-20-0281
PMID:32487776
Abstract

Acromegaly is a debilitating and disfiguring chronic disease, which occurs in both sexes at any age, associated with multiple comorbidities and increased mortality. It is typically caused by a GH-secreting pituitary adenoma that promotes exposure of body tissues to increased concentrations of GH and IGF-I. The diagnosis of acromegaly is still made very late in a substantial number of patients when the disease is already in advanced stages. An epidemiological study from Sweden has elegantly demonstrated that the longer the diagnostic delay in acromegaly, the higher the number of comorbidities. Moreover, about 25% of the Swedish patients had 10 years or more of diagnostic delay and in this group mortality rate was significantly increased. These results reinforce the importance of shortening the latency period between disease onset, diagnosis and treatment to improve patient outcomes. This commentary article discusses strategies to be embraced by the endocrine community to allow early identification of acromegaly among public and health professionals, as internists, primary care clinicians, different specialists and dentists are the first point of contact for most of the patients. We emphasize that acromegaly should be presented as a sporadic, rather than rare, insidious disease, meaning that there is a considerable chance for health professionals to see a patient with acromegaly throughout their careers. The motto 'you must know it to think of it' is advocated in awareness efforts to reduce time to diagnosis, which results in lower rates of morbidity and mortality and might positively impact healthcare costs.

摘要

肢端肥大症是一种使人衰弱和致残的慢性疾病,可发生于任何性别、任何年龄,与多种合并症和死亡率增加有关。它通常是由生长激素分泌性垂体腺瘤引起的,该腺瘤促使身体组织暴露于升高的生长激素和 IGF-I 浓度下。在相当多的患者中,肢端肥大症的诊断仍然非常滞后,此时疾病已经处于晚期。来自瑞典的一项流行病学研究优雅地证明,肢端肥大症的诊断延迟时间越长,合并症的数量就越多。此外,大约 25%的瑞典患者的诊断延迟时间为 10 年或更长时间,在这组患者中,死亡率显著增加。这些结果强调了缩短疾病发作、诊断和治疗之间潜伏期的重要性,以改善患者的预后。本文讨论了内分泌学界应采取的策略,以便使公众和卫生专业人员能够早期识别肢端肥大症,因为内科医生、初级保健临床医生、不同的专科医生和牙医是大多数患者的首要接触点。我们强调,应将肢端肥大症视为一种常见而非罕见的隐匿性疾病,这意味着卫生专业人员在整个职业生涯中都有相当大的机会看到肢端肥大症患者。我们提倡在提高认识的努力中采用“你必须知道它才能想到它”的口号,以减少诊断时间,从而降低发病率和死亡率,并可能对医疗保健费用产生积极影响。

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Acromegaly: 'You must know it to think of it'.肢端肥大症:“你必须了解它,才能想到它”。
Eur J Endocrinol. 2020 Jul;183(1):C1-C4. doi: 10.1530/EJE-20-0281.
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Acromegaly: A rare disease?肢端肥大症:一种罕见疾病?
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Przegl Lek. 2002;59(7):540-7.
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Acromegaly.
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The Liege Acromegaly Survey (LAS): a new software tool for the study of acromegaly.列日肢端肥大症调查(LAS):肢端肥大症研究的新软件工具。
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Assessment of sarcopenic obesity in patients with acromegaly.肢端肥大症患者肌少症肥胖的评估
Pituitary. 2025 Feb 3;28(1):25. doi: 10.1007/s11102-024-01494-w.
2
Acromegaly: diagnostic challenges and individualized treatment.肢端肥大症:诊断挑战与个体化治疗
Expert Rev Endocrinol Metab. 2025 Jan;20(1):63-85. doi: 10.1080/17446651.2024.2448784. Epub 2025 Jan 5.
3
Diagnostic, therapeutic, and prognostic characteristics of patients with acromegaly according to tumor size at diagnosis.根据诊断时肿瘤大小,肢端肥大症患者的诊断、治疗和预后特征。
Pituitary. 2024 Oct;27(5):537-544. doi: 10.1007/s11102-024-01432-w. Epub 2024 Aug 1.
4
Changing presentation of acromegaly in half a century: a single-center experience.半个世纪以来肢端肥大症表现的变化:单中心经验。
Pituitary. 2023 Oct;26(5):573-582. doi: 10.1007/s11102-023-01344-1. Epub 2023 Jul 31.
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Acromegaly Initially Presenting with Severe Infectious Diseases: A Case Report.以严重感染性疾病为首发表现的肢端肥大症:一例报告
JMA J. 2022 Jan 17;5(1):161-166. doi: 10.31662/jmaj.2021-0150. Epub 2021 Dec 24.
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Towards an Earlier Diagnosis of Acromegaly and Gigantism.实现肢端肥大症和巨人症的早期诊断。
J Clin Med. 2021 Mar 26;10(7):1363. doi: 10.3390/jcm10071363.