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Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and...
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Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and Future Perspectives—2nd Edition

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 30 April 2025 | Viewed by 10352

Special Issue Editor

Dr. Maria Efthymiou

E-Mail Website
Guest Editor
Haemostasis Res Unit, University College London, London, UK
Interests: antiphospholipid syndrome; pregnancy morbidity; antiphospholipid antibodies; resistance to activated protein c; venous thrombosis; stroke
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Antiphospholipid syndrome (APS) is an autoimmune disorder associated with life-threatening complications that, despite therapeutic advances, continues to cause significant mortality and morbidity. APS-associated clinical manifestations are heterogeneous and diverse, varying from venous and arterial thrombosis to catastrophic APS (CAPS) and pregnancy morbidity. APS is often associated with other autoimmune conditions, such as systemic lupus erythematosus, leading to a more severe course of disease. Life-long anticoagulation with vitamin K antagonists remains the standard treatment for thrombotic APS, but it is often associated with recurrences and failures and is not applicable to all manifestations of APS. Unfortunately, the diagnosis and management of APS continue to be challenging for clinicians.

At the same time and despite various mechanisms having been proposed as key components in the pathophysiology of APS, and many more are emerging, their precise contributions in the clinical manifestations of APS remain unknown. This heterogeneity underlying the pathophysiology of APS suggests that a single therapy is unlikely to be effective in all patients. 

The scope of this Special Issue, which will include original papers and reviews, is to provide an updated overview of the progress and advances in the treatment and pathophysiology of APS that will aid in the accurate diagnosis and management of this devasting disease to prevent its deleterious consequences.

Dr. Maria Efthymiou
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • antiphospholipid syndrome
  • management
  • treatment
  • pathophysiology
  • diagnostic tests

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Published Papers (5 papers)

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Review

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9 pages, 237 KiB  
Review
Antiphospholipid Syndrome: Insights into Molecular Mechanisms and Clinical Manifestations
by Alessandra Ida Celia, Mattia Galli, Silvia Mancuso, Cristiano Alessandri, Giacomo Frati, Sebastiano Sciarretta and Fabrizio Conti
J. Clin. Med. 2024, 13(14), 4191; https://doi.org/10.3390/jcm13144191 - 18 Jul 2024
Viewed by 1901
Abstract
Antiphospholipid syndrome (APS) is a complex systemic autoimmune disorder characterized by a hypercoagulable state, leading to severe vascular thrombosis and obstetric complications. The 2023 ACR/EULAR guidelines have revolutionized the classification and understanding of APS, introducing broader diagnostic criteria that encompass previously overlooked cardiac, [...] Read more.
Antiphospholipid syndrome (APS) is a complex systemic autoimmune disorder characterized by a hypercoagulable state, leading to severe vascular thrombosis and obstetric complications. The 2023 ACR/EULAR guidelines have revolutionized the classification and understanding of APS, introducing broader diagnostic criteria that encompass previously overlooked cardiac, renal, and hematologic manifestations. Despite these advancements, diagnosing APS remains particularly challenging in seronegative patients, where traditional tests fail, yet clinical symptoms persist. Emerging non-criteria antiphospholipid antibodies offer promising new diagnostic and management avenues for these patients. Managing APS involves a strategic balance of cardiovascular risk mitigation and long-term anticoagulation therapy, though the use of direct oral anticoagulants remains contentious due to varying efficacy and safety profiles. This article delves into the intricate pathogenesis of APS, explores the latest classification criteria, and evaluates cutting-edge diagnostic tools and therapeutic strategies. Full article
(This article belongs to the Special Issue Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and Future Perspectives—2nd Edition)
19 pages, 579 KiB  
Review
Understanding the Pathophysiology of Preeclampsia: Exploring the Role of Antiphospholipid Antibodies and Future Directions
by Melinda-Ildiko Mitranovici, Diana Maria Chiorean, Raluca Moraru, Liviu Moraru, Laura Caravia, Andreea Taisia Tiron, Marius Craina and Ovidiu Simion Cotoi
J. Clin. Med. 2024, 13(9), 2668; https://doi.org/10.3390/jcm13092668 - 2 May 2024
Cited by 1 | Viewed by 1866
Abstract
Preeclampsia (PE) is a hypertensive disorder in pregnancy associated with significant fetal and maternal complications. Antiphospholipid syndrome (APS) is an acquired form of thrombophilia characterized by recurrent venous or arterial thrombosis and obstetric complications that significantly increases morbidity and mortality rates. While preeclampsia [...] Read more.
Preeclampsia (PE) is a hypertensive disorder in pregnancy associated with significant fetal and maternal complications. Antiphospholipid syndrome (APS) is an acquired form of thrombophilia characterized by recurrent venous or arterial thrombosis and obstetric complications that significantly increases morbidity and mortality rates. While preeclampsia may not be the most prevalent obstetric complication in APS, it significantly impacts the long-term health of both mother and child. The treatment of preeclampsia in antiphospholipid syndrome is different from the treatment of preeclampsia as an independent disease. Despite current treatments involving anticoagulants, antiplatelet agents, and antihypertensive drugs, obstetric complications may persist, underscoring the need for cohesive management and effective treatments. The objective of our review is to briefly present knowledge about the physiopathology of preeclampsia and the role of antiphospholipid antibodies in this process. Based on the existing literature, our review aims to identify future directions in molecular pathology toward the discovery of biomarkers and targeted treatments. The application of multidisciplinary approaches and prognostic models, including new biomarkers, could be beneficial in the prediction of PE. Full article
(This article belongs to the Special Issue Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and Future Perspectives—2nd Edition)
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18 pages, 1166 KiB  
Review
Platelets and Thrombotic Antiphospholipid Syndrome
by Ibrahim Tohidi-Esfahani, Prabal Mittal, David Isenberg, Hannah Cohen and Maria Efthymiou
J. Clin. Med. 2024, 13(3), 741; https://doi.org/10.3390/jcm13030741 - 27 Jan 2024
Cited by 2 | Viewed by 2833
Abstract
Antiphospholipid antibody syndrome (APS) is an autoimmune disorder characterised by thrombosis and the presence of antiphospholipid antibodies (aPL): lupus anticoagulant and/or IgG/IgM anti-β2-glycoprotein I and anticardiolipin antibodies. APS carries significant morbidity for a relatively young patient population from recurrent thrombosis in any vascular [...] Read more.
Antiphospholipid antibody syndrome (APS) is an autoimmune disorder characterised by thrombosis and the presence of antiphospholipid antibodies (aPL): lupus anticoagulant and/or IgG/IgM anti-β2-glycoprotein I and anticardiolipin antibodies. APS carries significant morbidity for a relatively young patient population from recurrent thrombosis in any vascular bed (arterial, venous, or microvascular), often despite current standard of care, which is anticoagulation with vitamin K antagonists (VKA). Platelets have established roles in thrombosis at any site, and platelet hyperreactivity is clearly demonstrated in the pathophysiology of APS. Together with excess thrombin generation, platelet activation and aggregation are the common end result of all the pathophysiological pathways leading to thrombosis in APS. However, antiplatelet therapies play little role in APS, reserved as a possible option of low dose aspirin in addition to VKA in arterial or refractory thrombosis. This review outlines the current evidence and mechanisms for excessive platelet activation in APS, how it plays a central role in APS-related thrombosis, what evidence for antiplatelets is available in clinical outcomes studies, and potential future avenues to define how to target platelet hyperreactivity better with minimal impact on haemostasis. Full article
(This article belongs to the Special Issue Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and Future Perspectives—2nd Edition)
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19 pages, 351 KiB  
Review
Lupus Anticoagulant Detection under the Magnifying Glass
by Angelo Claudio Molinari, Tiziano Martini, Laura Banov, Antonella Ierardi, Marzia Leotta, Alessandra Strangio and Rita Carlotta Santoro
J. Clin. Med. 2023, 12(20), 6654; https://doi.org/10.3390/jcm12206654 - 20 Oct 2023
Cited by 3 | Viewed by 1550
Abstract
Diagnosis of antiphospholipid syndrome (APS) requires the presence of a clinical criterion (thrombosis and/or pregnancy morbidity), combined with persistently circulating antiphospholipid antibodies (aPL). Lupus anticoagulant (LA) is one of the three laboratory parameters (the others being antibodies to either cardiolipin or β2-glycoprotein I) [...] Read more.
Diagnosis of antiphospholipid syndrome (APS) requires the presence of a clinical criterion (thrombosis and/or pregnancy morbidity), combined with persistently circulating antiphospholipid antibodies (aPL). Lupus anticoagulant (LA) is one of the three laboratory parameters (the others being antibodies to either cardiolipin or β2-glycoprotein I) that defines this rare but potentially devastating condition. For the search for aCL and aβ2-GP-I, traditionally measured with immunological solid-phase assays (ELISA), several different assays and detection techniques are currently available, thus making these tests relatively reliable and widespread. On the other hand, LA detection is based on functional coagulation procedures that are characterized by poor standardization, difficulties in interpreting the results, and interference by several drugs commonly used in the clinical settings in which LA search is appropriate. This article aims to review the current state of the art and the challenges that clinicians and laboratories incur in the detection of LA. Full article
(This article belongs to the Special Issue Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and Future Perspectives—2nd Edition)

Other

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11 pages, 853 KiB  
Opinion
Prolongated Activated Partial Thromboplastin Time (aPTT) in Pediatric Patients before Surgery—Crying Wolf: Lupus (Anticoagulant) Does Not Always Threaten Children
by Tiziano Martini, Rita Carlotta Santoro, Laura Banov, Antonella Ierardi, Marzia Leotta, Alessandra Strangio, Johanna Svahn and Angelo Claudio Molinari
J. Clin. Med. 2024, 13(5), 1510; https://doi.org/10.3390/jcm13051510 - 6 Mar 2024
Viewed by 1698
Abstract
A prolonged preoperatory aPTT in children is often the cause of a delay of scheduled surgeries and the repetition of multiple blood tests, with the consequent wasting of resources and significant discomfort for children and parents. The aim of this review is to [...] Read more.
A prolonged preoperatory aPTT in children is often the cause of a delay of scheduled surgeries and the repetition of multiple blood tests, with the consequent wasting of resources and significant discomfort for children and parents. The aim of this review is to analyze the situations in which an isolated prolongation of aPTT is found during preoperative evaluation in children, especially when it is due to the presence of antiphospholipid antibodies, providing the readers with the keys to interpret this situation and the possibility to correctly evaluate the hemorrhagic risk of a patient. Full article
(This article belongs to the Special Issue Management, Diagnosis and Pathophysiology of Antiphospholipid Syndrome: Current Practice and Future Perspectives—2nd Edition)
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