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解读抗磷脂综合征:从个性化治疗到前沿研究

Navigating antiphospholipid syndrome: from personalized therapies to cutting-edge research.

作者信息

Kortright-Maldonado Karen, Reyes-Torres Bruno Eduardo, Cabrera-Lopez Lilian Stephany, Rodríguez-Henríquez Pedro, Tenorio-Aguirre Erika Karina, Martínez-Sánchez Froylan D

机构信息

Department of Internal Medicine, Hospital General "Dr. Manuel Gea González", Ciudad de Mexico, Mexico.

Facultad de Medicina, Universidad Nacional Autonoma de Mexico, Ciudad de Mexico, Mexico.

出版信息

Rheumatol Adv Pract. 2025 Jan 8;9(1):rkaf005. doi: 10.1093/rap/rkaf005. eCollection 2025.

DOI:10.1093/rap/rkaf005
PMID:39846052
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11751690/
Abstract

APS is an autoimmune disorder characterized by thrombosis and pregnancy complications, primarily driven by aPLs such as LA, aCL and anti-β2 glycoprotein I (a-β2GPI). Despite advances in anticoagulation therapies, managing refractory APS cases remains challenging. Emerging therapies, including rituximab, eculizumab and HCQ, show potential in addressing the underlying mechanisms of APS. Additionally, research into genetic and environmental factors, particularly the gut microbiome's role through molecular mimicry, suggests new therapeutic pathways. Diagnostic advancements, such as the adjusted Global Antiphospholipid Syndrome Score (aGAPSS), metabolomic profiling and MRI, have improved risk stratification and early detection. Non-traditional biomarkers like anti-phosphatidylserine/prothrombin (aPS/PT) and anti-Domain I antibodies further enhance risk assessment. Future research should aim to validate these approaches, optimizing patient outcomes and minimizing long-term APS complications.

摘要

抗磷脂综合征(APS)是一种自身免疫性疾病,其特征为血栓形成和妊娠并发症,主要由狼疮抗凝物(LA)、抗心磷脂抗体(aCL)和抗β2糖蛋白I抗体(a-β2GPI)等抗磷脂抗体(aPLs)驱动。尽管抗凝治疗取得了进展,但管理难治性APS病例仍然具有挑战性。包括利妥昔单抗、依库珠单抗和羟氯喹在内的新兴疗法在解决APS的潜在机制方面显示出潜力。此外,对遗传和环境因素的研究,特别是肠道微生物群通过分子模拟所起的作用,提示了新的治疗途径。诊断方面的进展,如调整后的全球抗磷脂综合征评分(aGAPSS)、代谢组学分析和磁共振成像(MRI),改善了风险分层和早期检测。抗磷脂酰丝氨酸/凝血酶原抗体(aPS/PT)和抗结构域I抗体等非传统生物标志物进一步加强了风险评估。未来的研究应致力于验证这些方法,优化患者预后并尽量减少APS的长期并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4128/11751690/8cf4f03e2be4/rkaf005f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4128/11751690/5d00c19d9243/rkaf005f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4128/11751690/8cf4f03e2be4/rkaf005f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4128/11751690/5d00c19d9243/rkaf005f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4128/11751690/8cf4f03e2be4/rkaf005f2.jpg

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本文引用的文献

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Exp Hematol Oncol. 2024 Aug 27;13(1):89. doi: 10.1186/s40164-024-00555-x.
2
Biological markers of high risk of thrombotic recurrence in patients with antiphospholipid syndrome: A literature review.抗磷脂综合征患者血栓复发高风险的生物学标志物:文献综述。
Autoimmun Rev. 2024 Jun;23(6):103585. doi: 10.1016/j.autrev.2024.103585. Epub 2024 Jul 31.
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Pregnancy in antiphospholipid syndrome: what should a rheumatologist know?
抗磷脂综合征与妊娠:风湿科医生应该了解什么?
Rheumatology (Oxford). 2024 Feb 6;63(SI):SI86-SI95. doi: 10.1093/rheumatology/kead537.
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New advances in genomics and epigenetics in antiphospholipid syndrome.抗磷脂综合征中基因组学和表观遗传学的新进展。
Rheumatology (Oxford). 2024 Feb 6;63(SI):SI14-SI23. doi: 10.1093/rheumatology/kead575.
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Antiphospholipid syndrome pathogenesis in 2023: an update of new mechanisms or just a reconsideration of the old ones?2023 年抗磷脂综合征发病机制:新机制的更新还是旧机制的重新思考?
Rheumatology (Oxford). 2024 Feb 6;63(SI):SI4-SI13. doi: 10.1093/rheumatology/kead603.
6
Expanding the role of chromosomal microarray analysis in the evaluation of recurrent pregnancy loss.扩大染色体微阵列分析在复发性流产评估中的作用。
J Reprod Immunol. 2024 Feb;161:104188. doi: 10.1016/j.jri.2023.104188. Epub 2023 Dec 28.
7
A thrombin-driven neural net diagnoses the antiphospholipid syndrome without the need for interruption of anticoagulation.一种由凝血酶驱动的神经网络可在不中断抗凝治疗的情况下诊断抗磷脂综合征。
Blood Adv. 2024 Feb 27;8(4):936-946. doi: 10.1182/bloodadvances.2023011938.
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Beyond the classics: The emerging value of anti-phosphatidylserine/prothrombin antibodies in antiphospholipid syndrome.超越经典:抗磷脂酰丝氨酸/凝血酶原抗体在抗磷脂综合征中的新兴价值。
Clin Immunol. 2023 Nov;256:109804. doi: 10.1016/j.clim.2023.109804. Epub 2023 Oct 12.
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2023 ACR/EULAR antiphospholipid syndrome classification criteria.2023 年 ACR/EULAR 抗磷脂综合征分类标准。
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