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Search Results (198)

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Keywords = antiphospholipid antibodies

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16 pages, 1076 KiB  
Article
A Digital Twin Strategy to Predict Thrombotic Recurrence in Antiphospholipid Syndrome Patients Treated with Direct Oral Anticoagulants vs. Vitamin K Antagonists Using Data from Real-World Populations
by Miguel Ángel Casado-Suela, Juan Torres-Macho, Aida Izquierdo-Martínez, Cristina Lucía Ancos-Aracil, Luis Ferreira-Burguillos, Elena Madroñal-Cerezo, Tamar Talaván-Zañón, Adela Castañeda-Mata, Luis Escobar-Curbelo, Ana Martínez de la Casa-Muñoz, Eva Ruiz-Navío, Ana Bustamante-Fermosel and Anabel Franco-Moreno
J. Clin. Med. 2025, 14(16), 5716; https://doi.org/10.3390/jcm14165716 - 12 Aug 2025
Viewed by 223
Abstract
Background/Objectives: The role of direct oral anticoagulants (DOACs) vs. vitamin K antagonists (VKAs) in preventing recurrent thrombosis in patients with antiphospholipid syndrome (APS) remains uncertain. Using real-world data, we aimed to evaluate the effectiveness and internal validity of a digital twin (DT) approach [...] Read more.
Background/Objectives: The role of direct oral anticoagulants (DOACs) vs. vitamin K antagonists (VKAs) in preventing recurrent thrombosis in patients with antiphospholipid syndrome (APS) remains uncertain. Using real-world data, we aimed to evaluate the effectiveness and internal validity of a digital twin (DT) approach for modeling thrombotic recurrence risk in APS patients treated with DOACs or VKAs. Methods: We conducted a multicenter observational study that included thrombotic APS patients treated with DOACs or VKAs. Clinical data were used to generate DT via conditional generative adversarial networks (CGANs), incorporating a directed acyclic graph (DAG) to preserve causal relationships. Validation metrics included absolute standardized mean differences (ASMD), mean ASMD (MASMD), and Spearman correlation matrices to assess structural fidelity. Treatment effects were estimated in a CGAN-conditioned cohort matched on key covariates. Results: Eighty-nine thrombotic APS patients were included: 70 (78.7%) received VKAs and 19 (21.3%) received DOACs. Thrombotic recurrences occurred in 5 DOAC patients (26.3%) and 17 AVK patients (24.3%). The CGAN-generated synthetic cohort closely mirrored the original data (MASMD = 0.073 ± 0.041), with 85.4% of pairwise correlations differing by <0.1 in absolute value. In the conditioned DT cohort, predicted recurrence was 24.2% for DOACs and 19.9% for VKAs. Recurrence risk increased with antibody burden, reaching 41.3% in triple-positive patients and 46.8% in those with index arterial thrombosis treated with DOACs. Conclusions: DT technology accurately replicated the clinical structure of APS patients, supporting its application for simulating counterfactual scenarios and estimating individualized treatment effects. Full article
(This article belongs to the Special Issue Managements of Venous Thromboembolism)
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22 pages, 2705 KiB  
Review
Autoantibodies in Systemic Lupus Erythematosus: Diagnostic and Pathogenic Insights
by Eleni Pagkopoulou, Charalampos Loutradis, Maria Papaioannou, Maria Daoudaki, Maria Stangou and Theodoros Dimitroulas
J. Clin. Med. 2025, 14(16), 5714; https://doi.org/10.3390/jcm14165714 - 12 Aug 2025
Viewed by 1268
Abstract
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by widespread immune dysregulation and the production of autoantibodies targeting nuclear, cytoplasmic, and cell surface antigens. These autoantibodies are central to disease pathogenesis, contribute to immune complex formation and organ damage, and serve [...] Read more.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by widespread immune dysregulation and the production of autoantibodies targeting nuclear, cytoplasmic, and cell surface antigens. These autoantibodies are central to disease pathogenesis, contribute to immune complex formation and organ damage, and serve as essential diagnostic and prognostic markers. Their detection supports disease classification, guides clinical decision-making, and offers insight into disease activity and therapeutic response. Traditional markers such as anti-nuclear antibodies (ANA), anti-dsDNA, and anti-Sm antibodies remain diagnostic cornerstones, but growing attention is given to anti-C1q, anti-nucleosome antibodies (ANuA), anti-ribosomal P, antiphospholipid, and anti-cytokine antibodies due to their associations with specific disease phenotypes and activity. These markers may reflect disease activity, specific organ involvement, or predict flares. The mechanisms underlying their persistence include B cell tolerance failure and long-lived plasma cell activity. The aim of this review is to summarize current knowledge on the major autoantibodies in SLE, appraise available detection methods, highlight their clinical utility and limitations and present evidence on the association between antibodies and disease phenotypes. Full article
(This article belongs to the Section Immunology)
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11 pages, 243 KiB  
Article
Characteristics of Systemic Lupus Erythematosus Patients with Diffuse Alveolar Hemorrhage: Clinical Features and Outcomes from a Single-Center Experience
by Radosław Dziedzic, Mariusz Korkosz and Joanna Kosałka-Węgiel
J. Clin. Med. 2025, 14(16), 5614; https://doi.org/10.3390/jcm14165614 - 8 Aug 2025
Viewed by 312
Abstract
Background/Objectives: Diffuse alveolar hemorrhage (DAH) is a rare but life-threatening complication that might occur in the course of systemic lupus erythematosus (SLE), presenting with acute respiratory symptoms, a rapid drop in hemoglobin, and diffuse pulmonary infiltrates. Despite various studies, clinical and laboratory [...] Read more.
Background/Objectives: Diffuse alveolar hemorrhage (DAH) is a rare but life-threatening complication that might occur in the course of systemic lupus erythematosus (SLE), presenting with acute respiratory symptoms, a rapid drop in hemoglobin, and diffuse pulmonary infiltrates. Despite various studies, clinical and laboratory risk factors for DAH in SLE remain unclear due to small cohort sizes and inconsistent findings. Methods: We analyzed the medical records of all adult SLE patients treated at the University Hospital in Kraków, Poland, from 2012 to 2022, to look for patients with DAH. Results: In a cohort of 1039 SLE patients, DAH was confirmed in five cases (0.48%), all presenting with respiratory symptoms and significant hemoglobin drops. No patients required intensive care unit admission or mechanical ventilation, and all survived the 5-year follow-up after receiving immunosuppressive therapy including glucocorticosteroids and cyclophosphamide, and also rituximab in one case. Common features included constitutional symptoms, hematologic and renal involvement, and frequent presence of antiphospholipid antibodies, with antiphospholipid syndrome diagnosed in three patients (60%). All patients had positive antinuclear antibodies, with the presence of anti-dsDNA and anti-SSA antibodies, each present in 3 out of 5 cases. Conclusions: In conclusion, early recognition and aggressive treatment of DAH in SLE patients, who often present other medical comorbidities as hematological, renal, and cardiovascular manifestations, is critical for improving long-term outcomes. Full article
(This article belongs to the Section Immunology)
10 pages, 254 KiB  
Article
Lupus Anticoagulant Positivity as a Risk Marker for Hemolytic Anemia in Patients with APS
by Ji-Hyoun Kang
Medicina 2025, 61(8), 1364; https://doi.org/10.3390/medicina61081364 - 28 Jul 2025
Viewed by 352
Abstract
Background and Objectives: Thrombocytopenia and hemolytic anemia are common but non-criteria manifestations of antiphospholipid syndrome (APS). However, their relationship with specific immunological profiles remains poorly characterized. This study aimed to evaluate these hematologic manifestations and identify their serological associations in patients with [...] Read more.
Background and Objectives: Thrombocytopenia and hemolytic anemia are common but non-criteria manifestations of antiphospholipid syndrome (APS). However, their relationship with specific immunological profiles remains poorly characterized. This study aimed to evaluate these hematologic manifestations and identify their serological associations in patients with APS. Materials and Methods: We retrospectively reviewed 346 patients diagnosed with APS. Demographic, clinical, and laboratory characteristics were analyzed. Logistic regression was used to identify risk factors associated with hemolytic anemia. Results: The mean age was 47.1 ± 13.1 years, and 71.7% were female. Thrombocytopenia was present in 34.5%, and hemolytic anemia in 16.5% of patients. Lupus anticoagulant (LAC) was the most common antibody (66.8%). In univariate analysis, hemolytic anemia was significantly associated with LAC positivity (OR 4.216, 95% CI: 2.326–7.640, p < 0.001), anticardiolipin IgG (OR 7.170, p = 0.007), triple positivity (OR 3.638, p = 0.002), and diabetes mellitus (OR 2.084, p = 0.007). DIAPS showed a protective trend (OR 0.547, p = 0.002). In multivariate analysis, only LAC remained an independent risk factor for hemolytic anemia (adjusted OR 3.557, 95% CI: 1.355–9.335, p = 0.003). Conclusions: LAC positivity is an independent predictor of hemolytic anemia in APS. These findings suggest a distinct immunologic profile among patients with hematologic involvement and highlight the need for further investigation into non-criteria manifestations. Full article
(This article belongs to the Special Issue Autoimmune Diseases: Advances and Challenges)
19 pages, 2212 KiB  
Review
Antiphospholipid Syndrome—Diagnostic and Methodologic Approach
by Agata Stańczewska, Karolina Szewczyk-Golec and Iga Hołyńska-Iwan
Metabolites 2025, 15(8), 500; https://doi.org/10.3390/metabo15080500 - 27 Jul 2025
Viewed by 597
Abstract
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by venous and arterial thrombosis and obstetric complications, driven by antiphospholipid antibodies (APLAs). This review synthesizes the latest advancements and current understanding, diagnosis, and treatment of APS. APLAs, including lupus anticoagulant (LAC), anticardiolipin (aCL), and [...] Read more.
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by venous and arterial thrombosis and obstetric complications, driven by antiphospholipid antibodies (APLAs). This review synthesizes the latest advancements and current understanding, diagnosis, and treatment of APS. APLAs, including lupus anticoagulant (LAC), anticardiolipin (aCL), and anti-β2-glycoprotein I (aβ2-GPI), interfere with coagulation and endothelial function, as well as with placental health. APS can be primary or secondary; it is often associated with systemic autoimmune diseases like lupus. The pathogenesis of APS remains only partially understood. APLAs promote thrombosis through endothelial damage, platelet activation, and inflammatory signaling pathways. Laboratory diagnosis relies on persistent positivity for APLAs and LAC through tests like ELISA and clotting assays, following a three-step confirmation process. New integrated test systems have been introduced to improve standardization. Classification criteria have evolved, with the 2023 EULAR-ACR criteria providing a weighted, domain-based scoring system, enhancing diagnostic precision. Catastrophic APS (CAPS) is a severe, rare manifestation of APS, characterized by multi-organ failure due to rapid, widespread microthrombosis and systemic inflammation, which requires urgent anticoagulation. Seronegative APS is proposed for patients with clinical features of APS but negative standard antibody tests, possibly due to non-criteria antibodies or transient immunosuppression. Treatment primarily involves long-term anticoagulation with vitamin K antagonists; direct oral anticoagulants are generally not recommended. APS diagnosis and management remain complex due to clinical heterogeneity and laboratory challenges. Continued refinement of diagnostic tools and criteria is essential for improving outcomes in this life-threatening condition. Full article
(This article belongs to the Section Endocrinology and Clinical Metabolic Research)
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17 pages, 1763 KiB  
Case Report
Placental Pathology in Obstetric Antiphospholipid Syndrome Beyond Thrombosis: A Case Report and Literature Review
by Dagmara Dzirba, Malwina Glinko, Marta Skoczyńska, Katarzyna Gruszecka, Martyna Trzeszcz, Adam Benedyczak and Magdalena Szmyrka
J. Clin. Med. 2025, 14(15), 5172; https://doi.org/10.3390/jcm14155172 - 22 Jul 2025
Viewed by 533
Abstract
Background: Antiphospholipid syndrome (APS) is one of the highest risk factors for obstetric complications. This article contains a case report of a patient with obstetric APS who experienced fetal loss during their first pregnancy and experienced a successful second pregnancy upon treatment [...] Read more.
Background: Antiphospholipid syndrome (APS) is one of the highest risk factors for obstetric complications. This article contains a case report of a patient with obstetric APS who experienced fetal loss during their first pregnancy and experienced a successful second pregnancy upon treatment with acetylsalicylic acid (ASA), low-molecular-weight heparin (LMWH), and hydroxychloroquine (HCQ). We compare placental pathology in these two pregnancies and discuss the impact of antiphospholipid antibodies and clinical management on pregnancy outcomes. We also propose methods to monitor obstetric antiphospholipid syndrome (OAPS) patients during pregnancy. Methods: A 26-year-old woman presented with a history of stillbirth at 25 weeks of pregnancy due to placental insufficiency. Before pregnancy, she experienced symptoms suggestive of autoimmune disease (thrombocytopenia, recurrent mouth aphthous ulcers, and Raynaud’s phenomenon) but had no diagnosis. Placental dysfunction correlated with the high ratio of sFlt-1/PIGF (soluble fms-like tyrosine kinase 1 and the placental growth factors index). Laboratory tests revealed the presence of antinuclear antibodies (ANAs) and triple positivity for antiphospholipid antibodies (aPLs). Results: Following the initiation of treatment for OAPS and regular monitoring consistent with current guidelines, the patient conceived and successfully delivered a healthy child. Conclusions: Adequate therapy and close monitoring during pregnancy, including clinical observation, placental biomarkers and regular ultrasonography, may help to reduce the risks and increase chances for optimal pregnancy outcomes. Additionally, pathological examination and clinical collaboration are essential components in future pregnancy counseling and should be a part of multidisciplinary management. Full article
(This article belongs to the Section Clinical Guidelines)
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20 pages, 311 KiB  
Article
Serum Concentrations of Vascular Endothelial Growth Factor in Polish Patients with Systemic Lupus Erythematosus Are Associated with Cardiovascular Risk and Autoantibody Profiles
by Katarzyna Fischer, Hanna Przepiera-Będzak, Marcin Sawicki, Maciej Brzosko and Marek Brzosko
J. Clin. Med. 2025, 14(14), 5133; https://doi.org/10.3390/jcm14145133 - 19 Jul 2025
Viewed by 495
Abstract
Background/Objectives: This study was conducted to analyze the associations between vascular endothelial growth factor (VEGF) serum concentrations and immunological biomarkers, inflammatory parameters, classical atherosclerosis risk factors, and cardiovascular manifestations in systemic lupus erythematosus (SLE) patients. Methods: The project included 83 individuals [...] Read more.
Background/Objectives: This study was conducted to analyze the associations between vascular endothelial growth factor (VEGF) serum concentrations and immunological biomarkers, inflammatory parameters, classical atherosclerosis risk factors, and cardiovascular manifestations in systemic lupus erythematosus (SLE) patients. Methods: The project included 83 individuals suffering from SLE, with 20 healthy individuals as controls. The serum levels of VEGF were determined through the ELISA method using R&D Systems tests. Laboratory markers, autoantibody profiles, traditional atherosclerotic risk factors, and organ manifestations were evaluated. Atherosclerotic changes were determined based on several indices including carotid intima-media thickness, ankle-brachial index and high resistance index assessments. Results: The reference range of serum VEGF concentrations was established based on the 25th and 75th percentiles obtained in the controls. High VEGF levels were significantly correlated with the presence of selected anti-phospholipid antibodies such as anti-prothrombin (OR = 10.7; 95%CI: 2.1–53.4) and anti-beta2 glycoprotein I (OR = 3.5; 95%CI: 1.1–10.8), as well as cardiac disorders (OR = 8.0; 95%CI: 1.6–39.5). On the other hand, low concentrations of VEGF were significantly related to lower frequencies of anti-double-stranded DNA antibodies (OR = 0.31; 95%CI: 0.11–0.91) and anti-endothelial cell antibodies (OR = 0.30; 95%CI: 0.11–0.85). Patients with low VEGF levels showed significantly reduced risks of atherosclerotic lesions (OR = 0.24; 95%CI: 0.04–0.99) and vasculitis development (OR = 0.17; 95%CI = 0.03–0.91). Conclusions: In conclusion, VEGF’s pathogenetic role in SLE and SLE-related atherothrombosis is manifested in close correlation with aPLs which may enhance their direct impact on endothelium. High VEGF levels are helpful for identifying cardiovascular risk in patients, while low concentrations indicate lower disease activity, as well as a lower risk of organ involvement. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
14 pages, 1360 KiB  
Article
Damage Burden in Polish Patients with Antiphospholipid Syndrome Measured Using Damage Index for Antiphospholipid Syndrome (DIAPS)
by Ewa Haladyj, Barbara Stypinska, Agata Matusiewicz, Wojciech Kunisz, Marzena Olesinska and Agnieszka Paradowska-Gorycka
Biomedicines 2025, 13(7), 1671; https://doi.org/10.3390/biomedicines13071671 - 8 Jul 2025
Viewed by 345
Abstract
Objectives: We aimed to quantify the damage burden measured using the Damage Index for Antiphospholipid Syndrome (DIAPS) in patients with antiphospholipid syndrome (APS) and identify patients with high damage as well as any correlations of damage with subclinical atherosclerosis. Methods: Patient [...] Read more.
Objectives: We aimed to quantify the damage burden measured using the Damage Index for Antiphospholipid Syndrome (DIAPS) in patients with antiphospholipid syndrome (APS) and identify patients with high damage as well as any correlations of damage with subclinical atherosclerosis. Methods: Patient damage was assessed via DIAPS. Based on demographic, clinical and laboratory characteristics, patients were divided into two subgroups: thrombotic APS patients with high vs. low damage, and non-thrombotic aPL-positive patients with vs. without damage. Participants underwent carotid/femoral ultrasound for atherosclerotic plaque detection and carotid–femoral and carotid-radial pulse wave velocity (PWV). Results: We included 112 patients with an APS diagnosis, 57 (50.9%) with primary APS and 55 (49.1%) with associated SLE. Cardiovascular (CVD) risk factors and complications were significantly more frequent in the thrombotic group, as well as in patients with high damage within the thrombotic group. We did not identify any risk factors for increased damage in the non-thrombotic group. Atherosclerotic plaque presence was present in 27 (24%) of the patients in this study with the same frequency in the APS and APS/SLE groups (p = 0.5446). Pulse wave velocity (PWV) was elevated in 27–32% patients according to analyzed arteries. Elevated PWV was more frequent in the APS group in comparison to APS/SLE only between carotid and radial arteries (p = 0.0012). Both atherosclerotic plaque presence and PWV did not correlate with damage severity. Conclusions: DIAPS indicates substantial damage in APS patients in our study. High organ damage mainly affected thrombotic patients and was related to CVD complications. At the same time, screening of subclinical atherosclerosis seems not to predict higher damage in APS patients. Full article
(This article belongs to the Section Immunology and Immunotherapy)
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14 pages, 2006 KiB  
Perspective
Lupus Anticoagulant Testing for Diagnosis of Antiphospholipid Syndrome: A Perspective Informed by Local Practice
by Emmanuel J. Favaloro and Leonardo Pasalic
J. Clin. Med. 2025, 14(14), 4812; https://doi.org/10.3390/jcm14144812 - 8 Jul 2025
Viewed by 1174
Abstract
Assessment for the presence or absence of lupus anticoagulant (LA) represents a common investigation in hemostasis laboratories. In particular, LA represents one of the laboratory criteria for the diagnosis of definite antiphospholipid syndrome (APS). The other laboratory criteria are the solid phase assays [...] Read more.
Assessment for the presence or absence of lupus anticoagulant (LA) represents a common investigation in hemostasis laboratories. In particular, LA represents one of the laboratory criteria for the diagnosis of definite antiphospholipid syndrome (APS). The other laboratory criteria are the solid phase assays (anticardiolipin (aCL) and anti-β2Glycoprotein I (aβ2GPI) antibodies of IgG and IgM isotypes). Current International Society on Thrombosis and Haemostasis (ISTH) guidance recommends testing LA by at least two tests based on different principles, with the activated partial thromboplastin time (aPTT) and dilute Russell viper venom time (dRVVT) being preferred. Additional assays may be used in addition, or instead of these assays in particular situations. For example, aPTT and dRVVT assays are very sensitive to the presence of various anticoagulants, and this may lead to false-positive identification of LA. This is particularly problematic in the age of the DOACs (direct oral anticoagulants), which are now the leading anticoagulants in use worldwide. We review recent literature on LA testing as well as our local practice to provide an update on this common test procedure. Our experience should be useful for laboratories struggling with LA interpretation for diagnosis or exclusion of APS. Full article
(This article belongs to the Section Clinical Laboratory Medicine)
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22 pages, 1104 KiB  
Review
Insights into Pulmonary Arterial Hypertension in Connective Tissue Diseases
by Bogna Grygiel-Górniak, Mateusz Lucki, Przemysław Daroszewski and Ewa Lucka
J. Clin. Med. 2025, 14(13), 4742; https://doi.org/10.3390/jcm14134742 - 4 Jul 2025
Viewed by 1055
Abstract
Pulmonary arterial hypertension (PAH) is a severe complication associated with connective tissue diseases (CTDs), which is characterized by a significant influence on the patient’s prognosis and mortality. The prevalence of PAH varies depending on the type of CTD. Still, it is highly prevalent [...] Read more.
Pulmonary arterial hypertension (PAH) is a severe complication associated with connective tissue diseases (CTDs), which is characterized by a significant influence on the patient’s prognosis and mortality. The prevalence of PAH varies depending on the type of CTD. Still, it is highly prevalent in patients with systemic sclerosis (SSc), systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD), and primary Sjögren’s syndrome (pSS). Identifying rheumatic disease-specific risk factors is crucial for early diagnosis and intervention. Risk factors for PAH development include specific sociological factors (related to race, gender, and age), clinical features (particularly severe Raynaud’s phenomenon and multiple telangiectasias), cardiological factors (pericarditis and left heart disease), biochemical factors (elevated NT-proBNP and decreased HDL-cholesterol), serological factors (presence of ANA, e.g., anti-U1-RNP or SSA, and antiphospholipid antibodies), and pulmonary factors (interstitial lung disease and decreased DLCO or DLCO/alveolar volume ratio < 70%, FVC/DLCO > 1.6). The analysis of risk factors can be the most useful during the selection of patients at high risk of PAH development. The initial diagnosis of PAH is usually based on transthoracic echocardiography (TTE) and is finally confirmed by right heart catheterization (RHC). Targeted therapies can improve outcomes and include endothelin receptor antagonists, prostacyclin analogs, phosphodiesterase inhibitors, and tailored immunosuppressive treatments. Effective management strategies require a multidisciplinary approach involving rheumatologists, cardiologists, and pulmonologists. The risk stratification and individualized treatment strategies can enhance survival and quality of life in patients with PAH-CTD. Full article
(This article belongs to the Special Issue Clinical Insights into Pulmonary Hypertension)
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12 pages, 252 KiB  
Article
Antibody Profile of Systemic Sclerosis and Mixed Connective Tissue Disease and Its Relationship with Lung Fibrosis and Pulmonary Hypertension
by Karolina Niklas, Dorota Sikorska, Tatiana Mularek-Kubzdela, Joanna Witoszyńska-Sobkowiak, Iwona Żychowska and Włodzimierz Samborski
Int. J. Mol. Sci. 2025, 26(12), 5684; https://doi.org/10.3390/ijms26125684 - 13 Jun 2025
Viewed by 916
Abstract
The most serious complications of systemic sclerosis (SSc) and mixed connective tissue disease (MCTD) include lung fibrosis (LF) and pulmonary hypertension (PH). The aim of this study was to find any association between the serological profile and the incidence of these complications. The [...] Read more.
The most serious complications of systemic sclerosis (SSc) and mixed connective tissue disease (MCTD) include lung fibrosis (LF) and pulmonary hypertension (PH). The aim of this study was to find any association between the serological profile and the incidence of these complications. The tested group included 121 persons (87 SSc, 34 MCTD); mean age 55.6 ± 13.4 years. Patients were qualified for the LF presence group based on HRCT. Likelihood of PH was determined using echocardiography. The presence of antinuclear antibodies (ANA) was assessed using indirect immunofluorescence, ANA-profile, sclerosis-profile (using EUROIMMUN kits), and antiphospholipid antibodies (aPL) (using the ELISA method). Distribution of individual antibody types was at a level similar to the previously described groups in the Polish population and differed from the American and African population. A positive correlation was found between LF and the presence of anti-Scl-70 (p = 0.024) antibodies, negative correlation was found between LF and the presence of anti-histone (p = 0.03), anti-centromere A (p = 0.009), anti-centromere B (p = 0.014), and anti-nucleosomes (p = 0.03) antibodies. No correlation between the presence of aPL and the above complications was found. The prevalence of individual antibody types in SSc and MCTD may have ethnic and geographical grounds. Scl-70 antibodies correlate positively with LF. Anti-centromere, anti-histone, and anti-nucleosome antibodies reduce its risk. No correlation between aPL and the occurrence of LF and elevated PH risk was found. Full article
14 pages, 971 KiB  
Article
Is COVID-19 Coagulopathy a Thrombotic Microangiopathy? A Prospective, Observational Study
by Mauro Silingardi, Fulvia Zappulo, Ada Dormi, Attilia Maria Pizzini, Chiara Donadei, Maria Cappuccilli, Chiara Fantoni, Stefania Zaccaroni, Valeria Pizzuti, Nicola Cilloni, Simona Tantillo, Antonella Guidi, Rita Mancini, Gaetano La Manna and Giorgia Comai
Int. J. Mol. Sci. 2025, 26(11), 5395; https://doi.org/10.3390/ijms26115395 - 4 Jun 2025
Cited by 1 | Viewed by 796
Abstract
Severe COVID-19 is often associated with coagulopathy and thrombotic complications. The underlying mechanisms are complex and multifactorial, involving platelet activation, dysregulation of the complement cascade, fibrinolytic imbalance, release of pro-inflammatory cytokines, immunothrombosis, antiphospholipid antibodies, and alterations in the von Willebrand factor (vWF)/ADAMTS13 axis. [...] Read more.
Severe COVID-19 is often associated with coagulopathy and thrombotic complications. The underlying mechanisms are complex and multifactorial, involving platelet activation, dysregulation of the complement cascade, fibrinolytic imbalance, release of pro-inflammatory cytokines, immunothrombosis, antiphospholipid antibodies, and alterations in the von Willebrand factor (vWF)/ADAMTS13 axis. These pathways are also implicated in thrombotic microangiopathies (TMAs), characterized by endothelial injury and widespread microvascular thrombosis. In this prospective monocentric observational study, we investigated whether COVID-19-associated coagulopathy meets the criteria for TMA and evaluated the roles of complement activation and vWF/ADAMTS13 imbalance in disease severity. Forty-three hospitalized COVID-19 patients were enrolled and stratified by disease severity. Blood samples collected at admission were analyzed for hematologic, coagulation, inflammatory, and complement parameters. A 30-day follow-up recorded survival and thrombotic events. All patients showed elevated vWF and factor VIII levels; however, only vWF collagen-binding activity (vWF-CBA) significantly correlated with disease severity. ADAMTS13 activity remained above 60% in all cases, and no schistocytes were detected, arguing against a diagnosis of classical TMA. Nevertheless, the vWF-CBA/ADAMTS13 ratio was significantly higher in severe cases, particularly in unvaccinated individuals, suggesting endothelial dysregulation. Complement analysis revealed increased C5a levels and decreased C3b/iC3b ratios in severe disease, consistent with complement activation and consumption. C2 levels were also lower in these patients. Although complement activation and vWF/ADAMTS13 imbalance did not directly correlate, both pathways showed a similar trend according to disease severity. Overall, our findings indicate that COVID-19-related coagulopathy does not fulfill the criteria for classical TMA but shows features of complement-mediated endothelial injury and vWF dysregulation. The vWF-CBA may serve as a rapid, standardized tool for assessing endothelial dysfunction. Activation of the complement system, particularly via the lectin and alternative pathways, appears central to the prothrombotic state in severe COVID-19. Full article
(This article belongs to the Section Molecular Microbiology)
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4 pages, 497 KiB  
Case Report
An Unusual Case of Multifactorial Hemolytic Anemia: A Complex Interaction Between Genetic and Autoimmune Factors
by Mario Biglietto, Giusy Peluso, Cristina Luise, Diletta Tripi, Maria Francesca Conforti, Valeria Filipponi, Luisa Bizzoni and Stefania Trasarti
Hemato 2025, 6(2), 15; https://doi.org/10.3390/hemato6020015 - 29 May 2025
Viewed by 474
Abstract
Hemolytic anemias (HAs) encompasses a heterogeneous group of disorders with either congenital or acquired etiologies. We present a complex case of a 27-year-old woman with hemolytic anemia of multifactorial origin, involving both inherited RBC membrane defects and multiple autoimmune comorbidities. Genetic testing identified [...] Read more.
Hemolytic anemias (HAs) encompasses a heterogeneous group of disorders with either congenital or acquired etiologies. We present a complex case of a 27-year-old woman with hemolytic anemia of multifactorial origin, involving both inherited RBC membrane defects and multiple autoimmune comorbidities. Genetic testing identified heterozygous variants in SPTA1 and SBDS, consistent with carrier status for hereditary elliptocytosis and Shwachman–Diamond syndrome. The patient was also diagnosed with Caspr2-positive Isaacs syndrome, systemic lupus erythematosus, seronegative antiphospholipid syndrome, and anti-aquaporin-4 antibody-positive optic neuritis. Despite extensive immunosuppressive and immunotherapic treatment and splenectomy, the clinical course was marked by recurrent hemolytic crises, thrombotic complications, and progressive neurological involvement, ultimately leading to death. Our experience highlights the challenges posed by the diagnosis and management of HAs, underlining the relevance of a multidisciplinary and personalized approach. Full article
(This article belongs to the Section Non Neoplastic Blood Disorders)
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11 pages, 712 KiB  
Article
Prevalence and Risk Factors of Acute Ischemic Stroke in Patients with Antiphospholipid Syndrome: A Retrospective Monocenter Analysis
by Paschalis Evangelidis, Nikolaos Kotsiou, Panagiotis Kalmoukos, Zacharo Ntova, Theodosia Papadopoulou, Sofia Chissan, Anastasia Sarvani, Styliani Kokoris, Elisavet Grouzi, Michael Doumas, Sofia Vakalopoulou and Eleni Gavriilaki
J. Cardiovasc. Dev. Dis. 2025, 12(5), 183; https://doi.org/10.3390/jcdd12050183 - 14 May 2025
Viewed by 537
Abstract
(1) Background: Antiphospholipid syndrome (APS) is associated with thrombotic events and the laboratory identification of antiphospholipid antibodies (aPL), in which lupus anticoagulant (LA), anticardiolipin (aCL), and anti-β2 glycoprotein I antibodies are included. The aim of the current retrospective study is to examine clinical [...] Read more.
(1) Background: Antiphospholipid syndrome (APS) is associated with thrombotic events and the laboratory identification of antiphospholipid antibodies (aPL), in which lupus anticoagulant (LA), anticardiolipin (aCL), and anti-β2 glycoprotein I antibodies are included. The aim of the current retrospective study is to examine clinical characteristics and risk factors of ischemic stroke as a clinical manifestation of APS. (2) Methods: Adult patients diagnosed with APS between 1 January 2009 and 1 June 2024 were retrospectively enrolled in this study. Sydney-revised Sapporo criteria were used for the diagnosis of APS, while ischemic stroke was diagnosed based on the acute onset of focal neurologic deficits and confirmed with radiological findings. (3) Results: We studied 115 patients with APS. Specifically, 28 (24.35%) patients, with a mean age (standard deviation) of 54 (±12.5), had ischemic stroke as a clinical manifestation of APS. In univariate analysis, stroke development was associated with the following factors: age (p < 0.001), livedo reticularis (p = 0.046), avascular necrosis (AVN) (p = 0.046), hypertension (p < 0.001), dyslipidemia (p = 0.013), aCL IgG (U/L) antibodies title (p = 0.035), and adjusted global APS score (aGAPSS) (p = 0.047), while in multivariate analysis, it was associated with age (p = 0.006), hypertension (p < 0.001), AVN (p = 0.006), livedo reticularis (p = 0.035), aCL IgG title (p = 0.004), and aGAPSS (p = 0.002). (4) Conclusions: Stroke is a common initial manifestation of APS, with cardiovascular risk factors, particularly hypertension, being highly prevalent. Full article
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Review
Perspective on Renal Involvement in Antiphospholipid Syndrome: Implications for Diagnosis, Pathogenesis, and Treatment
by Ariela Hoxha, Dorella Del Prete, Irene Condonato, Francesca K. Martino, Marco Lovisotto, Federico Nalesso and Paolo Simioni
J. Clin. Med. 2025, 14(10), 3326; https://doi.org/10.3390/jcm14103326 - 10 May 2025
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Abstract
Antiphospholipid syndrome (APS) can affect the kidneys, leading to renal artery and vein thrombosis, allograft loss following transplantation, and microvascular damage referred to as aPL-nephropathy (aPL-N). APL-N is a complex and frequently underdiagnosed condition characterized by an incomplete understanding of its etiopathogenesis and [...] Read more.
Antiphospholipid syndrome (APS) can affect the kidneys, leading to renal artery and vein thrombosis, allograft loss following transplantation, and microvascular damage referred to as aPL-nephropathy (aPL-N). APL-N is a complex and frequently underdiagnosed condition characterized by an incomplete understanding of its etiopathogenesis and associated with unfavorable renal outcomes. The 2023 ACR/EULAR classification criteria for APS included aPL-N within the microvascular domain. The gold standard for aPL-N is the biopsy, revealing lesions associated with acute thrombotic microangiopathy and chronic vascular changes. Nevertheless, reluctance for biopsies due to anticoagulation and thrombocytopenia underscores the need for noninvasive diagnostics. Common clinical features include hypertension, microscopic hematuria, proteinuria, and renal insufficiency. Antiphospholipid antibodies seem crucial to kidney damage through thrombotic and inflammatory processes. Studies and experimental models of thrombotic microangiopathy lesions suggest the involvement of the complement cascade, tissue factor, and mammalian target of the rapamycin complex activation pathway. Currently, the management of aPL-N is based mainly on expert opinion, with limited evidence supporting the use of anticoagulants, leading to controversy in their application. Treatment may include heparin, intravenous immunoglobulin, plasma exchange, and targeted therapies tailored to aPL-N mechanisms. Future multicenter studies are essential to clarify their roles. The goal of this review is to inform clinicians and create a research agenda to address the unmet needs in diagnosing and managing APL-N. Full article
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