Figure 1 antiphospholipid syndrome pathogenesis a upregulation of beta2 glycoprotein 1 b 2gp1 receptors on endothelial cells following a second hit. The antiphospholipid apl syndrome is an acquired autoimmune disorder of unknown etiology in which patients present with thrombosis together with laboratory evidence for antibodies in blood that recognize anionic phospholipidprotein complexes. Two major discoveries have advanced our understanding of the underlying complex pathogenesis of the aps. This is a learning in 10 voice annotated presentation vap on antiphospholipid antibody syndrome. Antiphospholipid syndrome aps is an autoimmune disease characterized by venous thromboembolism, arterial thrombosis, and obstetric morbidities in the setting of persistently positive levels of antiphospholipid antibodies measured on 2 different occasions 12 weeks apart. Antiphospholipid syndrome aps is a disorder that manifests clinically as recurrent venous or arterial thrombosis andor fetal loss. Antiphospholipid syndrome aps is an autoimmune disorder.
At least one clinical criterion and one laboratory criterion discussed further in lab studies must be present for a patient to be. Clinical importance of the antiphospholipid syndrome in patients with sle. The existence, however, of primary aps paps in patients lacking another autoimmune rheumatic. Aps remains the most frequent cause of acquired hypercoagulability and recurrent miscarriage. Pathogenesis of the antiphospholipid syndrome article pdf available in pediatric rheumatology january 2004 with 31 reads how we measure reads.
See pathogenesis of antiphospholipid syndrome and clinical manifestations of antiphospholipid syndrome and treatment of antiphospholipid syndrome and antiphospholipid syndrome. The new engl and journal of medicine 1034 n engl j med 368. This new edition is a comprehensive and updated resource on antiphospholipid syndrome aps, which is an autoimmune disorder. Results of direct enzymelinked immunosorbent assays of affinitypurified anti phos pho lip id antibodies in patients with the anti phos pho lip id syndrome. Purchase the antiphospholipid syndrome ii 1st edition. Antiphospholipid antibody syndrome aps is an autoimmune multisystemic disorder characterized clinically by recurrent thrombosis and pregnancy morbidity and serologically by the presence of antiphospholipid antibodies apl including anticardiolipin acl and anti. Antiphospholipid syndrome aps is an autoimmune disease, characterized by recurrent thrombotic events, miscarriages and thrombocytopenia, and is associated with the presence of antiphospholipid antibodies apl, which include anticardiolipin, lupus anticoagulant and anti. The present clinical and laboratory classification criteria for antiphospholipid syndrome aps were established in sydney, australia, in 2006.
Antiphospholipid syndrome and systemic lupus erythematosus. Antiphospholipid syndrome aps is a heterogenous disorder in terms of clinical manifestations and range of autoantibodies. Tracing the molecular pathogenesis of antiphospholipid. Pdf the pathogenesis of the antiphospholipid syndrome. Antiphospholipid antibodies and infections annals of the. Antiphospholipid syndrome nord national organization. Protein c pathway and other hemostasis abnormalities in the pathogenesis of the antiphospholipid syndrome r. Antiphospholipid antibody syndrome aps is an autoimmune condition characterized by the presence of antiphospholipid antibodies apl along with certain clinical features. To learn more about learning in 10 lit, please visit. Antiphospholipid syndrome current research highlights.
Aps provokes blood clots in both arteries and veins as well as pregnancyrelated complications such as miscarriage, stillbirth, preterm delivery, and severe preeclampsia. Pathogenesis of antiphospholipid antibody syndrome. Although the presence of apl is a necessary precondition, apsassociated clotting is seemingly triggered by an additional second hit. Antiphospholipid syndrome aps is a rare autoimmune disorder characterized by recurring blood clots thromboses. It is now widely accepted that apl are a heterogenous group of antibodies abs that react with a myriad of phospholipids pls, plprotein. Posttranslational forms of beta 2glycoprotein i in the. Patients with aps are at increased risk for accelerated atherosclerosis. Antiphospholipid syndrome aps is an autoimmune disease characterised by a heterogenous group of antibodies directed against negatively charged phospholipids including antiphospholipid antibodies apl, anticardiolipin antibodies acl and. Antiphospholipid syndrome, also known as hughes syndrome, is an autoimmune disease characterised by a set of clinical manifestations, almost all of which are direct or indirect sequelae of a hypercoagulable state involving the venous, and to a lesser extent the arterial vasculature. Antiphospholipid syndrome was described in full in the 1980s, aftervarious previous reports of specificantibodies in people with systemic lupus hugheserythematosus and thrombosis. Although the presence of apl is a necessary precondition, aps. The antiphospholipid syndrome aps is an autoimmune condition associated with thrombosis venous or arterial and adverse pregnancy outcomes.
The syndrome is sometimes referred to as hughes syndrome,after the rheumatologist dr. The diagnosis of aps is based on clinical obstetric andor thrombotic. The antiphospholipid syndrome is a prothrombotic disorder that can affect both the venous and arterial circulations. Characteristic laboratory abnormalities in aps include persistently elevated levels of antibodies directed against membrane anionic phospholipids ie, anticardiolipin acl antibody, antiphosphatidylserine or. Pathogenesis and management of antiphospholipid syndrome. The raps rivaroxaban versus warfarin to treat patients with thrombotic antiphospholipid syn drome, with or without systemic lupus erythema tosus trial enrolled only patients with venous thrombotic events, and a laboratory surrogate outcome measure endogenous thrombin potential was the primary outcome. Despite these ongoing questions, there is substantial new information available regarding the differential diagnosis, clinical features and current and potential. A diagnosis of the antiphospholipid syndrome is made if at least one of the above clinical criteria and one of the laboratory criteria are met. Antiphospholipid syndrome aps is an autoimmune systemic disease characterized by venous andor arterial thromboses andor recurrent fetal losses in the presence of antiphospholipid antibodies apls. Presence in the plasma of at least one type of autoantibody known as an antiphospholipid antibody apl. Antiphospholipid syndrome is an autoimmune disease associated with a variety of symptoms, including thrombosis and obstetrical complications. Pregnancy implications and management in pregnant women.
Review article antiphospholipid syndrome pathogenesis. Ocular manifestations of the antiphospholipid syndrome. Blood clots can form in any blood vessel of the body. Antiphospholipid syndrome in children is a complex problem. Therefore, they may act as potent modulators of the immune system and play an important role in the development of several autoimmune diseases. Antiphospholipid syndrome aps is an autoimmune disorder with no cure, but plenty of people with aps never have symptoms. This primer provides an update on the epidemiology. The antiphospholipid syndrome aps is an autoimmune disease characterised by a procoagulant state that predisposes to recurrent thrombosis and miscarriages. Review article antiphospholipid syndrome pathogenesis fariha saleem department of pathology holy family hospital and rawalpindi medical college introduction the antiphospholipid syndrome aps is an acquired autoimmune condition characterized by arterial and venous thrombosis, gestational morbidity. Antiphospholipid syndrome aps is an autoimmune disease in which thrombosis andor pregnancy morbidity occur in patients with persistently positive antiphospholipid antibodies apls. The occurrence of at least one of the following clinical manifestations. Antiphospholipid antibody syndrome is present if at least one of the clinical criteria and one of the laboratory criteria that follow are met clinical criteria 1.
However, it is clear that other neurological symptoms, including diplopia, memory loss, ataxia, and. The publishers final edited version of this article is available free at. Fetal loss induced by antiphospholipid antibodies apls in mice is a complementdriven inflammatory condition. Strokes, transient ischaemic attacks, and headaches including migraine are important complications. Lupus and antiphospholipid syndrome aps in women may. Antiphospholipid syndrome, or antiphospholipid antibody syndrome aps or apls, is an autoimmune, hypercoagulable state caused by antiphospholipid antibodies. Proposed pathogenetic mechanisms in the antiphospholipid syndrome aps, supporting evidence from studies in humans and animals, and implications for targeted therapy.
In aps, the body recognizes certain normal components of blood andor cell membranes as foreign substances and produces antibodies antiphospholipid antibodies against. Pathogenesis of antiphospholipid syndrome despite clear associations between apl and thrombosis and with pregnancy morbidity, the pathophysiology of these complications is not well understood, with their heterogeneity suggesting that more than one pathogenic process is involved. In 2006, revised criteria for the diagnosis of aps were published in an international consensus statement. The antiphospholipid syndrome aps, hughes syndrome, first described in 1983, is a prothrombotic disease in which neurological events feature prominently. Pathogenesis of antiphospholipid syndrome uptodate. The major features of this disorder include arterial and venous thrombosis and recurrent. Pdf antiphospholipid antibodies apl are both diagnostic markers for, and pathogenic drivers of, antiphospholipid syndrome aps. Pathophysiology of the antiphospholipid antibody syndrome. Insights into disease mechanisms have led to new therapies. Antiphospholipid syndrome aps is an autoimmune antibodymediated disorder defined by the occurrence of thrombosis andor pregnancy morbidity in presence of persistent antiphospholipid antibodies apl. Antiphospholipid antibody syndrome is an autoimmune disorder that primarily affects.
Pathogenesis of antiphospholipid syndrome by professor borut boic, ph. Aps occurs when your bodys immune system makes antibodies that attack phospholipids. Presence in the plasma of at least one type of autoantibody known as an antiphospholipid antibody apl the occurrence of at least one of the following clinical manifestations. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. Longterm anticoagulation therapy is the only treatment with proven. Management of antiphospholipid syndrome annals of the. It is associated with obstetrical complications mainly spontaneous abortion as well as venous and arterial thrombotic risks. Active investigation continues into its pathogenesis and the role of anticardiolipin antibodies, anti. Thrombosis must be confirmed by objective validated criteria ie, unequivocal findings of appropriate imaging studies or histopathology. Antiphospholipid syndrome aps is defined by the presence of two major components. The clinical manifestations and treatment of this disorder are presented separately.
The antiphospholipid syndrome is often associated with other sys temic autoimmune diseases such as systemic lupus erythematosus sle. Antiphospholipid antibody syndrome aps is an autoimmune acquired thrombophilia characterized by recurrent thrombosis and pregnancy morbidity in the presence of antiphospholipid antibodies apl. Neurological manifestations of antiphospholipid syndrome. The pathogenesis of the antiphospholipid syndrome youtube. The pathogenesis of the antiphospholipid syndrome nejm. The specific symptoms and severity of aps vary greatly from person to person depending upon the exact location of a blood clot and the organ system affected. Diagnosis and management of the antiphospholipid syndrome. The incidence and prevalence of antiphospholipid syndrome are estimated at. Antiphospholipid syndrome aps treatment and diagnosis antiphopholipid syndrome treatment focuses on reducing the chances of more blood clots. Antiphospholipid syndrome genetic and rare diseases.
Aps can be primary, if it occurs in the absence of any underlying disease, or secondary, if it is associated with another autoimmune disorder, most. The pathophysiology of antiphospholipid syndrome bentham open. Antiphospholipid syndrome aps is characterized by recurrent thrombosis and pregnancy morbidity in association with the persistent presence of circulating antiphospholipid antibodies apl. The role of apls in thrombosis is widely recognized, but the pathogenic mechanisms triggering thrombosis in aps are only partially understood. Antiphospholipid syndrome aps is characterized by vascular thrombosis andor pregnancy loss or morbidity in association with persistent positivity of autoantibodies known as antiphospholipid antibodies apl miyakis et al, 2006 table 1. It is associated with obstetrical complications mainly spontaneous abortion as well as.
The syndrome was first proposed to be a distinct entity, the anticardiolipin acl syndrome in 1985 3 and was later renamed the antiphospholipid antibody syndrome. The first was the discovery that beta2 glycoprotein1. The antiphospholipid syndrome is a prothrombotic disorder associated with autoantibodies. Antiphospholipid antibodies apl are both diagnostic markers for, and pathogenic drivers of, antiphospholipid syndrome aps. Engagement of the complement receptor c5ar on neutrophils induces expression of the principal initiator of the blood clotting mechanism, tissue factor tf, and blocking this downstream event of complement activation prevents antibodyinduced fetal loss. Despite extensive studies in unraveling the mechanism of aps, the precise.
Phospholipids are a type of fat found in all living cells, including blood cells and. The estimated incidence of aps is approximately 5 cases every 100,000 subjectsyear with a prevalence of 4050 every 100,000. The antiphospholipid syndrome aps is an autoimmune systemic. Molecular pathogenesis of the antiphospholipid syndrome. Vascular thrombosis can be arterial, venous, or small vessel, in any tissue or organ and must be objectively confirmed i. Register with us for free to save searches, favorite articles and access email. Abstractthe antiphospholipid apl syndrome is an acquired autoimmune disorder of. Anti phospholipid antibody ppt linkedin slideshare.
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