Antibodies, Antiphospholipid ; immunology ; therapeutic use ; Antiphospholipid Syndrome ; diagnosis ; immunology ; therapy ; Child ; Humans

Antiphospholipid syndrome (APS) is characterized by arterial and venous thrombosis and(or) morbid pregnancy, accompanied by persistent antiphospholipid antibody (aPL) positivity. However, due to the complex pathogenesis of APS and the large individual differences in the expression of aPL profiles of patients, the problem of APS diagnosis, prognosis judgment and risk assessment may not be solved only from antibody level. It is necessary to use new technologies and multiple dimensions to explore novel APS biomarkers. The application of next generation sequencing (NGS) technology in diseases with high incidence of somatic mutations, such as genetic diseases and tumors, has been very mature. Thus, gradually understanding the research and application progress of APS by NGS technology from genome, transcriptome, epigenome and other aspects is meaningful. This article reviews the related research of NGS technology in APS, and provide more reference for the deep understanding of the APS-related screening markers and disease pathogenesis.
Female ; Pregnancy ; Humans ; Antiphospholipid Syndrome/diagnosis* ; Thrombosis/complications* ; Antibodies, Antiphospholipid ; Biomarkers ; High-Throughput Nucleotide Sequencing

Antibodies, Antiphospholipid ; blood ; immunology ; Antiphospholipid Syndrome ; diagnosis ; etiology ; immunology ; Child, Preschool ; Diagnosis, Differential ; Humans ; Male ; Partial Thromboplastin Time

OBJECTIVE: To explore the predictive value of four items of new thrombus markers combined with conventional coagulation tests for thrombosis in antiphospholipid syndrome. METHODS: A total of 121 antiphospholipid syndrome (APS) patients who hospitalized at Peking University People's Hospital from March 2022 to January 2023 were selected and divided into thrombus group (50 cases) and nonthrombus group (71 cases) according to whether thrombosis occurred. The differences of laboratory characteristics including antiphospholipid antibodies were compared between the thrombotic and non-thrombotic groups. Chemiluminescent immunoassay was used to detect thrombomodulin (TM), thrombin-antithrombin complex (TAT), Plasmin-α2 plasmin inhibitor complex (PIC), and tissue plasminogen activator inhibitor complex (t-PAIC) in plasma from venous. The independent risk factors of thrombosis in patients with APS were determined using binary Logistic regression. Receiver operating characteristic (ROC) curve analysis was applied to evaluate the efficacy of each index on the prediction of thrombosis. RESULTS: Compared with the patients without thrombosis, the patients with thrombosis were older [49 (32, 64) years vs. 36 (32, 39) years, P < 0.05]. The percentages of male, smoking, hypertension, and global antiphospholipid syndrome score (GAPSS)≥10 in the patients with thrombosis were significantly higher than those in the patients without thrombosis (P < 0.05). The positive rates of anticardiolipin antibody (aCL) and lupus anticoagulant (LA) in the thrombotic group were significantly higher than those in the non-thrombotic group (P < 0.05), and the levels of prothrombin time, activated partial thromboplastin time, fibrinogen, fibrin degradation product in the thrombotic group were significantly higher than those in the non-thrombotic group (P < 0.05).Among the thrombosis group, venous thrombosis accounted for 19 (38.00%), including deep vein thrombosis (16, 84.21%) and pulmonary embolism accounted (5, 26.32%); Arterial thrombosis accounted for 35 (70.00%), including myocardial infarction (6, 17.14%) cerebral infarction (30, 85.71%). The patients in the thrombotic group had significantly greater TM levels than those in the non-thrombotic group (P < 0.05).There were no significant dif-ferences between the two groups in TAT (Z=-1.420, P=0.156), PIC (Z=-0.064, P=0.949), and t-PAIC (Z=-1.487, P=0.137). Univariate and binary Logistic regression analysis of relevant variables showed that advanced age [OR=1.126, P=0.002], elevated TM [OR=1.325, P=0.048], prolonged prothrombin time (PT) [OR=4.127, P=0.008] were independent risk factors for thrombosis in the patients with APS. ROC curve analysis of the above three independent risk factors showed that the combined detection of age, PT and TM had the highest Yoden index (0.727) and sensitivity (83.0%), with a specificity of 89.7%. CONCLUSION TAT, PIC, TM, and t-PAIC may reflect thrombus formation from the coagulation system, fibrinolysis system, and endothelial system. The combined of age TM and PT is superior to the application of a single marker, which has diagnostic value for the early identification of APS thrombosis.
Humans ; Male ; Antiphospholipid Syndrome/diagnosis* ; Tissue Plasminogen Activator ; Thrombosis/etiology* ; Antibodies, Antiphospholipid/analysis* ; Blood Coagulation Tests/adverse effects*

Adult ; Antiphospholipid Syndrome ; diagnosis ; Cesarean Section ; Diagnostic Errors ; Female ; Humans ; Infarction ; diagnosis ; Liver Diseases ; diagnosis ; Pregnancy

Antiphospholipid syndrome (APS) is primarily considered to be an autoimmune pathological condition that is also referred to as "Hughes syndrome". It is characterized by arterial and/or venous thrombosis and pregnancy pathologies in the presence of anticardiolipin antibodies and/or lupus anticoagulant. APS can occur either as a primary disease or secondary to a connective tissue disorder, most frequently systemic lupus erythematosus (SLE). Damage to the nervous system is one of the most prominent clinical constellations of sequelae in APS and includes (i) arterial/ venous thrombotic events, (ii) psychiatric features and (iii) other non- thrombotic neurological syndromes. In this overview we compare the most important vascular ischemic (occlusive) disturbances (VIOD) with neuro-psychiatric symptomatics, together with complete, updated classifications and hypotheses for the etio-pathogenesis of APS with underlying clinical and laboratory criteria for optimal diagnosis and disease management.
Antibodies, Antiphospholipid/immunology ; Antiphospholipid Syndrome/diagnosis/*immunology/therapy ; Arterial Occlusive Diseases/diagnosis/*immunology/therapy ; Cerebrovascular Disorders/diagnosis/immunology/therapy ; Humans ; Lupus Erythematosus, Systemic/diagnosis/immunology/therapy

Antiphospholipid antibody is associated with a clinical syndrome of vascular thrombosis, thrombocytopenia, recurrent fetal loss and cerebrovascular accident whether or not the clinical diagnosis of SLE coexists. Antithrombin deficiency leads to thromboembolism in the venous system. It develops an asymptomatic venous occlusion in many cases, but when it develops cerebral venous thrombosis, mesenteric venous thrombosis or Budd-Chiari syndrome, it leads to special clinical problems. We report the finding of a low anti-thrombin level and IgM anticardiolipin antibody in a patient who has had episodes of a large thrombus in the right atrium and Budd-Chiari syndrome due to the thrombus.
Antibodies, Anticardiolipin ; Antibodies, Antiphospholipid ; Antiphospholipid Syndrome* ; Budd-Chiari Syndrome* ; Diagnosis ; Heart Atria ; Humans ; Immunoglobulin M ; Stroke ; Thrombocytopenia ; Thromboembolism ; Thrombosis* ; Venous Thrombosis

Antiphospholipid syndrome may be associated with various neurologic conditions. Pseudotumor cerebri is a rare complication of the disease and is often attributed to venous thrombosis. We report a 18-year-old woman with pseudotumor cerebri due to primary antiphospholipid syndrome. She has normal findings on MR venography. Antiphospholipid syndrome should be considered in the differential diagnosis of pseudotumor cerebri, even in the patients without evidence of venous thrombosis on MR angiography.
Adolescent ; Angiography ; Antiphospholipid Syndrome* ; Diagnosis, Differential ; Female ; Humans ; Phlebography ; Pseudotumor Cerebri* ; Venous Thrombosis

Antiphospholipid Syndrome ; diagnosis ; etiology ; therapy ; Child ; Humans ; Lupus Erythematosus, Systemic ; complications ; Male

OBJECTIVE: To detect the serum levels of soluble endothelial glycoprotein endoglin (s-Eng) in patients with antiphospholipid syndrome (APS) and to evaluate the correlation between s-Eng levels and clinical features and laboratory parameters. METHODS: The levels of serum s-Eng were measured by enzyme linked immunosorbent assay (ELISA) in 139 patients with APS, 44 patients with SLE but no APS, 37 patients with primary Sjögren's syndrome (pSS), 23 patients with Bechet's disease (BD), 22 patients with systemic sclerosis (SSc) and 22 persistent anticardiolipin antibody (aCL) positive individuals without SLE or APS (simply aCL positive group) and 87 health controls (HC) without any auto-immune diseases. These APS patients included 64 primary APS patients and 75 APS patients secondary to SLE.The correlation between the clinical data, laboratory parameters, and serum s-Eng levels were analyzed.Independent samples t test, paired t test, Chi-square Test, Mann-Whitney U test, Pearson's χ² test were used for statistical analyses. RESULTS: (1) The serum levels of s-Eng were significantly higher in the patients with APS whether primary or secondary to SLE than in the health controls and simply aCL positive group and the patients with other autoimmune diseases, including SLE, pSS, BD and SSc (P<0.001). There was no significant difference in the serum s-Eng levels between simply aCL positive group and health controls [(5.17±2.00) mg/L vs. (5.04±1.11) mg/L, P>0.05]. (2) The best cut-off value for the diagnosis of APS was no less than 8.37 mg/L as mean ± 3SD value, with the sensitivity at 0.772 and the specificity at 0.928. The Youden index was 0.700. These results indicated good validity of s-Eng as a diagnostic marker for APS. (3) The proportions of artery thrombosis and pathological pregnancy were higher in the group of s-Eng-positive APS patients than that in s-Eng-negative group (46/81 vs. 19/58, 29/65 vs. 10/44, respectively, all P<0.05). The levels of PLT were lower in the group of s-Eng-positive APS patients (72.00×10⁹/L vs. 119.00×10⁹/L, P<0.001). (4) The proportions of the presence (93.83% vs. 37.93%, P<0.001) and titer (61.70 U/mL vs. 15.45 U/mL, P<0.001) of aCL were both higher in the group of s-Eng-positive APS patients than in s-Eng-negative group. The proportions of the presence (61.73% vs. 43.10%, P<0.05) and titer (33.48 U/mL vs.17.40 U/mL, P<0.05) of anti-β2-glycoprotein I antibody were both higher in the group of s-Eng-positive APS patients than in s-Eng-negative group too. CONCLUSION s-Eng serum levels were significantly increased in the patients with APS, and it may play a role as acomplementary serological marker for the diagnosis and risk prediction of APS.
Antibodies, Anticardiolipin ; Antiphospholipid Syndrome/diagnosis* ; Autoantibodies ; Endoglin/blood* ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Pregnancy