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成人地中海贫血相关性骨质疏松症的病因、诊断与治疗

Aetiology, diagnosis and treatment of thalassemia-associated osteoporosis of the adult.

作者信息

Ambrosio Maria Rosaria, Cattaneo Camilla Alice, Gagliardi Irene, Carnevale Aldo, Zatelli Maria Chiara

机构信息

Section of Endocrinology, Geriatrics and Internal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

Service d'Endocrinologie, Diabétologie et Nutrition, Nantes Université, CHU Nantes, l'institut du thorax, Nantes, F-44000, France.

出版信息

J Endocrinol Invest. 2025 Apr;48(4):799-815. doi: 10.1007/s40618-024-02503-2. Epub 2025 Jan 6.

DOI:10.1007/s40618-024-02503-2
PMID:39760968
Abstract

AIM

This review aims to overview factors contributing to TAO development and addresses the targeted diagnostic work-up and treatment management in adult thalassemic patients.

RESULTS

Osteoporosis management in Thalassemia is challenging because several factors contributing to its pathogenesis should be considered and controlled starting from child- hood. A multidisciplinary approach is crucial. Evidence concerning the efficacy of available anti-osteoporosis drugs in thalassemic patients is scarce. In this scenario, clinical experience and center resources often guide the treatment choice. More efforts should be made to share knowledge in this field in order to indicate specific treatment strategies for TAO management.

METHODS

We performed a literature search in Pubmed from 1992 to March 2024 using the words Thalassemia and: osteoporosis, Bisphosphonates, Denosumab, Teriparatide, Romosozumab, hormone replacement therapy, growth hormone, hypogonadism, calcium, vitamin D, bone disease, sarcopenia. The search was limited to English literature including original studies, reviews, meta-analyses, case reports.

摘要

目的

本综述旨在概述导致地中海贫血相关骨质疏松(TAO)发生发展的因素,并探讨成年地中海贫血患者针对性的诊断检查及治疗管理。

结果

地中海贫血患者的骨质疏松管理具有挑战性,因为从儿童期起就应考虑并控制导致其发病机制的多个因素。多学科方法至关重要。关于现有抗骨质疏松药物在地中海贫血患者中疗效的证据稀缺。在这种情况下,临床经验和中心资源常常指导治疗选择。应在该领域做出更多努力以分享知识,从而指明TAO管理的具体治疗策略。

方法

我们于1992年至2024年3月期间在PubMed上进行文献检索,检索词为“地中海贫血”以及:“骨质疏松”“双膦酸盐”“地诺单抗”“特立帕肽”“罗莫单抗”“激素替代疗法”“生长激素”“性腺功能减退”“钙”“维生素D”“骨病”“肌肉减少症”。检索限于英文文献,包括原始研究、综述、荟萃分析、病例报告。

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Maturitas. 2024 Sep;187:108044. doi: 10.1016/j.maturitas.2024.108044. Epub 2024 Jun 7.
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Global, regional, and national burden of thalassemia, 1990-2021: a systematic analysis for the global burden of disease study 2021.1990 - 2021年全球、区域和国家的地中海贫血负担:全球疾病负担研究2021的系统分析
EClinicalMedicine. 2024 May 6;72:102619. doi: 10.1016/j.eclinm.2024.102619. eCollection 2024 Jun.
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Bone Health Impairment in Patients with Hemoglobinopathies: From Biological Bases to New Possible Therapeutic Strategies.
血红蛋白病患者的骨骼健康损害:从生物学基础到新的潜在治疗策略
Int J Mol Sci. 2024 Mar 1;25(5):2902. doi: 10.3390/ijms25052902.
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Bone densitometry in Thalassemia major: a closer look at pitfalls and operator-related errors in a 10-year follow-up population.地中海贫血症患者的骨密度测定:对 10 年随访人群中陷阱和操作人员相关错误的深入观察。
Radiol Med. 2024 Mar;129(3):488-496. doi: 10.1007/s11547-024-01759-1. Epub 2024 Feb 14.
5
Association of osteoporosis and sarcopenia with fracture risk in transfusion-dependent thalassemia.输血依赖型地中海贫血中骨质疏松症和肌少症与骨折风险的关系。
Sci Rep. 2023 Sep 29;13(1):16413. doi: 10.1038/s41598-023-43633-6.
6
Klotho: An Emerging Factor With Ergogenic Potential.klotho:一种具有促力能潜力的新兴因子。
Front Rehabil Sci. 2022 Jan 6;2:807123. doi: 10.3389/fresc.2021.807123. eCollection 2021.
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The role of opportunistic quantitative computed tomography in the evaluation of bone disease and risk of fracture in thalassemia major.机会性定量计算机断层扫描在评估地中海贫血症患者骨骼疾病和骨折风险中的作用。
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