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Blood Feb 2024Antiphospholipid syndrome (APS) is a rare autoimmune disease characterized by arterial, venous, or microvascular thrombosis, pregnancy morbidities, or nonthrombotic...
Antiphospholipid syndrome (APS) is a rare autoimmune disease characterized by arterial, venous, or microvascular thrombosis, pregnancy morbidities, or nonthrombotic manifestations in patients with persistently positive antiphospholipid antibodies. These antibodies bind cellular phospholipids and phospholipid-protein complexes resulting in cellular activation and inflammation that lead to the clinical features of APS. Our evolving understanding of APS has resulted in more specific classification criteria. Patients meeting these criteria should be treated during pregnancy according to current guidelines. Yet, despite treatment, those positive for lupus anticoagulant have at least a 30% likelihood of adverse pregnancy outcomes. Patients with recurrent early miscarriage or fetal death in the absence of preeclampsia or placental insufficiency may not meet current classification criteria for APS. Patients with only low titer anticardiolipin or anti-β(2)-glycoprotein I antibodies or immunoglobulin M isotype antibodies will not meet current classification criteria. In such cases, clinicians should implement management plans that balance potential risks and benefits, some of which involve emotional concerns surrounding the patient's reproductive future. Finally, APS may present in pregnancy or postpartum as a thrombotic microangiopathy, a life-threatening condition that may initially mimic preeclampsia with severe features but requires a very different treatment approach.
Topics: Humans; Female; Pregnancy; Antiphospholipid Syndrome; Pre-Eclampsia; Placenta; Antibodies, Antiphospholipid; Phospholipids; Pregnancy Outcome; Autoantibodies; Antibodies, Anticardiolipin
PubMed: 38145574
DOI: 10.1182/blood.2023020727 -
Practical Neurology Apr 2023Chorea can be associated with autoimmune diseases such as antiphospholipid syndrome and has been associated with the isolated presence of antiphospholipid antibodies...
Chorea can be associated with autoimmune diseases such as antiphospholipid syndrome and has been associated with the isolated presence of antiphospholipid antibodies (aPL). Chorea is a rare neurological manifestation of antiphospholipid syndrome. The pathophysiological mechanisms underlying aPL-related chorea are still debated. One postulated mechanism is aPL or other autoantibody binding to brain-blood vessel endothelium, resulting in endothelial dysfunction secondary to a proinflammatory cascade, with sequalae of inflammation and local microthrombosis. Another postulated mechanism considers immune-mediated attack (aPL or antibasal ganglia antibodies) against specific basal ganglia epitopes. Here, we report a patient with isolated aPL-related chorea that followed a relapsing-remitting course. We highlight the role of brain metabolic imaging with fluorodeoxy glucose positron-emission tomography in the diagnostic workup of chorea and the challenges in the practical management of aPL-related chorea with symptomatic treatments.
Topics: Humans; Antiphospholipid Syndrome; Chorea; Antibodies, Antiphospholipid; Autoimmune Diseases; Brain
PubMed: 36207127
DOI: 10.1136/pn-2022-003587 -
Kidney & Blood Pressure Research 2023Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the development of autoantibodies and the impairment of the coagulation system. Knowledge about... (Review)
Review
BACKGROUND
Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the development of autoantibodies and the impairment of the coagulation system. Knowledge about this syndrome is increasing over time, but kidney involvement, especially APS nephropathy, still represents a challenge for physicians.
SUMMARY
A "two hit" model has been hypothesized to explain APS pathophysiology, and the role played by some factors, such as the complement system, is becoming more and more clear. From a clinical point of view, along with thrombosis in any site and/or obstetric morbidities, that are the hallmarks of APS, a constellation of several other clinical symptoms is related to APS. These symptoms alone are not sufficient to fulfill Sydney criteria for APS and this could potentially lead to omitting some diagnoses. The mainstay of management of APS is antithrombotic therapy, but there are expectations for new drugs that regulate the immune system. APS could affect the kidneys in many ways and among them, APS nephropathy is an intriguing entity that has been overlooked in recent years. Novel studies on APS nephropathy are lacking.
KEY MESSAGES
In this review, we discuss what we currently know about APS and its relationship with the kidney, with an eye toward the future perspectives. Multicenter studies on APS nephropathy are necessary in order to develop targeted therapies.
Topics: Female; Pregnancy; Humans; Antiphospholipid Syndrome; Antibodies, Antiphospholipid; Kidney; Kidney Diseases; Thrombosis
PubMed: 37734329
DOI: 10.1159/000529229 -
Best Practice & Research. Clinical... Dec 2023Systemic lupus erythematosus (SLE) is a chronic autoimmune disease which frequently affects women of childbearing age. Nowadays, pregnancy is not contraindicated in... (Review)
Review
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease which frequently affects women of childbearing age. Nowadays, pregnancy is not contraindicated in cases of well-controlled disease activity, but pregnancies are still at higher risk of maternal and fetal complications compared to the general population. During pregnancy and puerperium patients are at risk of disease flare, and obstetric complications are more frequent in cases of active disease at conception/beginning of pregnancy, a history of lupus nephritis, and concomitant presence of antiphospholipid syndrome. To improve pregnancy outcomes in SLE patients, appropriate preconception counseling with changes in medication, if necessary, and close rheumatological and obstetrical monitoring are fundamental. This review aims to summarize the risk factors for adverse pregnancy outcomes and provide an update on developments in medical care for pregnancy in SLE patients.
Topics: Humans; Pregnancy; Lupus Erythematosus, Systemic; Female; Pregnancy Complications; Pregnancy Outcome; Antiphospholipid Syndrome; Risk Factors; Lupus Nephritis; Preconception Care
PubMed: 37596173
DOI: 10.1016/j.berh.2023.101860 -
Revista Brasileira de Ginecologia E... Oct 2019Antiphospholipid antibody syndrome (APS) is a systemic, autoimmune, prothrombotic disease characterized by persistent antiphospholipid antibodies (aPLs), thrombosis,... (Review)
Review
Antiphospholipid antibody syndrome (APS) is a systemic, autoimmune, prothrombotic disease characterized by persistent antiphospholipid antibodies (aPLs), thrombosis, recurrent abortion, complications during pregnancy, and occasionally thrombocytopenia. The objective of the present study was to review the pathophysiology of APS and its association with female infertility. A bibliographic review of articles of the past 20 years was performed at the PubMed, Scielo, and Bireme databases. Antiphospholipid antibody syndrome may be associated with primary infertility, interfering with endometrial decidualization and with decreased ovarian reserve. Antiphospholipid antibodies also have direct negative effects on placentation, when they bind to the trophoblast, reducing their capacity for invasion, and proinflammatory effects, such as complement activation and neutrophil recruitment, contributing to placental insufficiency, restricted intrauterine growth, and fetal loss. In relation to thrombosis, APS results in a diffuse thrombotic diathesis, with global and diffuse dysregulation of the homeostatic balance. Knowing the pathophysiology of APS, which is closely linked to female infertility, is essential for new therapeutic approaches, specialized in immunomodulation and inflammatory signaling pathways, to provide important advances in its treatment.
Topics: Abortion, Habitual; Adult; Antibodies, Antiphospholipid; Antiphospholipid Syndrome; Female; Humans; Infertility, Female; Middle Aged; Pregnancy
PubMed: 31658490
DOI: 10.1055/s-0039-1697982 -
European Journal of Haematology Dec 2023Antiphospholipid syndrome is an autoimmune disorder which is characterized by the presence of heterogeneous antiphospholipid antibodies. There is an evidence on... (Review)
Review
Antiphospholipid syndrome is an autoimmune disorder which is characterized by the presence of heterogeneous antiphospholipid antibodies. There is an evidence on antiphospholipid (aPL) antibodies related to thromboembolic events in cancer patients. In fact, the thrombotic complications in patients with malignancy occur at a rather high frequency, compared to other risk factors. In parallel with standard therapies available, there is need of case-by-case monitoring of each patient and the introduction of new therapies and need for more clinical trials which will address many questions for the optimal management of patients. This paper presents a basic review of the literature on the aPL antibodies associated with cardiovascular disease and cancer, as well as its complications, which are reported so far in the bibliography.
Topics: Humans; Antiphospholipid Syndrome; Cardiovascular Diseases; Antibodies, Antiphospholipid; Autoimmune Diseases; Neoplasms
PubMed: 37667555
DOI: 10.1111/ejh.14096 -
Saudi Medical Journal Nov 2023
Topics: Humans; Antiphospholipid Syndrome
PubMed: 37926454
DOI: 10.15537/smj.2023.44.11.20230725 -
European Journal of Obstetrics,... Sep 2021Catastrophic antiphospholipid syndrome (CAPS) is an uncommon and the most severe form of antiphospholipid syndrome (APS). A 33-week pregnant patient with... (Review)
Review
Catastrophic antiphospholipid syndrome (CAPS) is an uncommon and the most severe form of antiphospholipid syndrome (APS). A 33-week pregnant patient with Klippel-Trenaunay syndrome, past SARS-CoV-2 infection and type I fetal growth restriction with shortening of the fetal long bone was diagnosed in our center with a probable CAPS. Cesarean section was performed four days after the diagnosis due to the torpid evolution of the patient. Clinical improvement was noted a few days later and the mother and baby were discharged within a week. We review the current literature on CAPS during pregnancy and provide an updated view.
Topics: Antiphospholipid Syndrome; COVID-19; Cesarean Section; Female; Humans; Pregnancy; Pregnancy Complications; SARS-CoV-2
PubMed: 34273751
DOI: 10.1016/j.ejogrb.2021.07.002 -
Lupus Aug 2021Antiphospholipid syndrome (APS) and myeloproliferative neoplasms (MPN) are associated with an increased risk of thrombosis. The optimal management of patients with...
Antiphospholipid syndrome (APS) and myeloproliferative neoplasms (MPN) are associated with an increased risk of thrombosis. The optimal management of patients with coexistent APS and MPN has not been defined. A single centre and systematic literature review of patients with coexistent APS and MPN was performed. Cases were divided into two groups based on whether they met international consensus criteria for APS. Of the 12 studies identified, eight were excluded (leaving five of a total 54 patients), as although antiphospholipid antibodies (aPL) were documented, the diagnosis of APS was not conclusively demonstrated. Another ten patients with definite APS were identified at our centre. Fifteen patients (ten females, five males) were therefore included in this analysis (eleven definite APS and four highly likely), median age 44 (range: 13-71) years. Nine had polycythaemia vera and six, essential thrombocythaemia. Thirteen of the 15 patients (86.7%) had thrombotic APS (seven with initial venous events and six arterial) and two (13.3%) had obstetric APS. Nine patients were single-positive, and six double-positive for aPL. None were triple aPL-positive. Four patients at our centre had recurrent thrombotic/obstetric events, including while on anticoagulation/antiplatelet treatment.
Topics: Adolescent; Adult; Aged; Antibodies, Antiphospholipid; Antiphospholipid Syndrome; Cohort Studies; Female; Humans; Male; Middle Aged; Polycythemia Vera; Pregnancy; Recurrence; Thrombocytosis; Thrombosis; Young Adult
PubMed: 34192956
DOI: 10.1177/09612033211021154 -
Current Rheumatology Reports Dec 2019Antiphospholipid syndrome (APS) is a rare heterogenous disorder associated with the presence of antiphospholipid antibodies and can present in a wide variety of clinical... (Review)
Review
PURPOSE OF REVIEW
Antiphospholipid syndrome (APS) is a rare heterogenous disorder associated with the presence of antiphospholipid antibodies and can present in a wide variety of clinical manifestations including thrombosis and pregnancy complications. Although the etiology of APS remains poorly understood, there is strong support for considering APS as a complex genetic disease in which multiple genetic risk factors, in conjunction with environmental factors, affect its onset, progression, and severity. Here, we provide a comprehensive review of the current knowledge of the genetic basis of APS, which remains in its infancy.
RECENT FINDINGS
Most genetic studies to date in APS were performed in small cohorts of patients. As a result, only few genetic associations reported are convincing. Several reports suggested genetic associations with HLA class II alleles in APS, and only two genetic loci outside of the HLA region (STAT4 and C1D) reached the threshold for genome-wide level of significance (P < 5 × 10). In this review, we also shed light on the genetic differences among the diverse clinical subsets of APS and briefly discuss the role that DNA methylation changes might play in the pathophysiology of this disease. The genetic basis of APS remains poorly characterized. Larger collaborative multicenter studies using well-characterized patients are needed to comprehensively understand the role of genetic susceptibility in APS.
Topics: Antiphospholipid Syndrome; Humans
PubMed: 31807905
DOI: 10.1007/s11926-019-0869-y