Those with aps make abnormal proteins called antiphospholipid autoantibodies in the blood. More than three decades have passed, and experts are still uncovering new pieces of this disease complex pathogenesis and management. Recent advances in understanding antiphospholipid syndrome. Pdf the pathophysiology of antiphospholipid syndrome.
Antiphospholipid antibody syndrome commonly called antiphospholipid syndrome or aps is a recently identified autoimmune disease present mostly in young women. European evidencebased recommendations for diagnosis and. The objective was to develop evidencebased recommendations for the management of antiphospholipid syndrome aps in adults. Aps occurs when your bodys immune system makes antibodies that attack phospholipids. Antiphospholipid syndrome aps is a multisystem autoimmune condition characterized by vascular thromboses associated with persistently positive antiphospholipid antibodies. Antiphospholipid syndrome apls is a complex systemic disease with a wide variety of clinical manifestations. Strokes, transient ischaemic attacks, and headaches including migraine are important complications. It occurs when your bodys immune system makes antibodies that attack phospholipids a type of fat found in living cells. In pregnancy, it is a leading cause of miscarriage, stillbirth and preeclampsia. Antiphospholipid syndrome american college of rheumatology. Antiphospholipid syndrome aps is a systemic autoimmune disease with the highest prevalence in women of childbearing age, characterised by venous andor arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid apl antibodies.
However, it is clear that other neurological symptoms, including diplopia, memory loss, ataxia, and multiple sclerosislike. Multiple sclerosis ms and antiphospholipid syndrome aps share common clinical, laboratory and radiological features. The single hub and access point for paediatric rheumatology in europe share initiative was launched to develop diagnostic and management regimens for children. Antiphospholipid syndrome aps is a blood clotting disorder that can cause strokes, heart attacks and dvts. Characteristic laboratory abnormalities in aps include persistently elevated levels of antibodies directed against membrane anionic phospholipids ie, anticardiolipin acl antibody, antiphosphatidylserine or.
The antiphospholipid syndrome is a common autoimmune disease caused by pathogenic antiphospholipid antibodies, leading to recurrent thrombosis andor obstetrical complications. The antiphospholipid syndrome aps, hughes syndrome, first described in 1983, is a prothrombotic disease in which neurological events feature prominently. The present clinical and laboratory classification criteria for antiphospholipid syndrome aps were established in sydney, australia, in 2006. Antiphospholipid syndrome aps is an autoimmune disorder characterised by arterial and venous thrombosis, adverse pregnancy outcomes for mother and fetus, and raised levels of antiphospholipid apl antibodies. Antiphospholipid syndrome aps is an acquired autoimmune thrombophilia characterized by venous or arterial thrombosis, andor pregnancy loss or complications in the presence of persistently positive antiphospholipid antibodies. The relevance of noncriteria clinical manifestations of antiphospholipid 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 rare in children, and evidencebased guidelines are sparse. Persistently elevated antiphospholipid antibodies associated with thromboses and pregnancyrelated morbidity are key diagnostic criteria. Incidence, pathophysiology, and clinical manifestations of. Subsequently, the diagnosis of a possible aps is now frequently considered in daily practice, not only by subspecialists but also by general practitioners, in patients with thrombosis, sometimes whatever their age at the time of the first vascular event. This book provides the reader with a comprehensive overview of the antiphospholipid syndrome. M6 2738 27 1874303x15 2015 bentham open open access antiphospholipid syndrome aps an update on clinical features and.
Ten years after its identification, thousands of articles and 2 books have made the aps popular. Antiphospholipid syndrome thrombosis in antiphospholipidantibodyposi tive patients who do not have other risk factors is probably. In the antiphospholipid syndrome, however, the autoantibodies react with a normal component of blood cells called. The epidemiology of definite antiphospholipid syndrome aps in the general population has not been described. Antiphospholipid syndrome aps or hughes syndrome is a prothrombotic disease characterized by thrombosis and pregnancy morbidity in the presence of antiphospholipid antibodies apl. Abstract background antiphospholipid syndrome aps or hughes syndrome is a prothrombotic disease characterized by thrombosis and.
In the obstetric population, recurrent early pregnancy loss, fetal loss, and thrombosis are hallmarks of the disease. Pregnancy morbidity defined as at least 1 of the following. Antiphospholipid syndrome aps is a systemic autoimmune disease characterised by recurrent thromboembolic events arterial or venous andor morbidity in pregnancy fetal loss, premature birth, or recurrent embryonic losses in the presence of laboratory evidence of antiphospholipid antibodies apl. Antiphospholipid syndrome aps is a systemic autoimmune disease with the highest prevalence in women of childbearing age, characterised by venous andor arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called. Hughes syndrome and multiple sclerosis i uthman, m h a. Antiphospholipid syndrome aps diagnostic algorithm1,11. Antiphospholipid syndrome aps is an autoimmune multisystem disorder characterized by arterial, venous, or small vessel thromboembolic events andor pregnancy morbidity in the presence of persistent antiphospholipid antibodies apl. Antiphospholipid syndrome in a pregnant female presenting. Despite the prothrombotic nature of aps, thrombocytopenia is. Pediatric antiphospholipid syndrome article pdf available in current rheumatology reports 174.
Consequently, management is mostly based on observational studies and physicians experience, and treatment regimens differ widely. Primary adrenal failure due to antiphospholipid syndrome. Patients with apls have developed one or more pathogenic autoantibodies directed against plasma and cell surface. Antiphospholipid syndrome aps is a blood disorder caused by abnormal proteins antibodies in the blood that lead to an increase risk of blood clotting and problems with pregnancy. One of the most important advances in rheumatology and connective tissue diseases of the last decade. Antiphospholipid syndrome aps, also known as hughes syndrome, is a systemic autoimmune disease characterized by thrombosis andor pregnancy morbidity in the presence of persistently positive antiphospholipid antibodies. Antiphospholipid syndrome treatment algorithm bmj best. Antiphospholipid syndrome aps is an autoimmune disease characterized.
Antiphospholipid syndrome aps is an autoimmune disorder. Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots thromboses that can block blood vessels. Antiphospholipid syndrome aps is an autoimmune thromboinflammatory disease that classically manifests with largevessel thrombosis, thrombotic microangiopathy, and obstetric complications. It focuses on both the genetic and environmental aspects related to apl production. Antiphospholipid syndrome antiphospholipid syndrome is caused by abnormal antibodies, called autoantibodies, in the blood. The patient is now following up with hydrocortisone, fludrocortisone, and warfarin sodium. Antiphospholipidsyndrome aps is a rare systemic autoimmune disease characterised by venousandor arterial thrombosis, pregnancy. Antithrombotic therapy is the mainstay of treatment given the high risk of recurrent thromboembolism that characterizes this condition.
Antiphospholipid syndrome and the lungs european medical. Antiphospholipid syndrome genetics home reference nih. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. Pdf antiphospholipid syndrome aps is defined by clinical manifestations that include. Antiphospholipid syndrome is a rare reason for adrenal failure. The antiphospholipid antibody syndrome aps is defined by the persistent presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism or pregnancy morbidity. The genetic factors highlighted include human leukocyte antigen hla and nonhla associations and where available, data linking genes to clinical. Antiphospholipid syndrome and kidney disease kidney. Pdf the antiphospholipid syndrome aps is an acquired thombophilia. Update on antiphospholipid antibody syndrome scielo. Patients with aps are at increased risk for accelerated atherosclerosis, myocardial infarction, stroke, and valvular.
Antiphospholipid syndrome aps is a complex autoimmune disease often. While antiphospholipid syndrome is an autoimmune disease, its diagnosis does not mean that a patient will develop another autoimmune condition. Antiphospholipid syndrome criteria bmj best practice. Antiphospholipid syndrome should be suspected if patients have morbidity secondary to venousarterial thrombosis. The antiphospholipid syndrome aps is characterized by arterial or venous thrombosis andor pregnancy morbidity accompanied by persistently positive tests for antiphospholipid antibodies apl.
Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. This causes blood to flow improperly and can lead to dangerous. A redo mitral valve replacement was carried out owing to early deterioration of the prior valve. Importantly for nephrologists, antiphospholipid antibodies are associated with various renal manifestations including large renal vessel thrombosis, renal artery stenosis, and a constellation of. The normal function of antibodies is to defend the body against infections and foreign substances. Initially it was considered secondary to rheumatic heart disease. Aps is diagnosed in people who have blood clots or problems with pregnancy and who have evidence of these abnormal antibodies in the blood. Antiphospholipid syndrome and libmansacks endocarditis in. Antiphospholipid syndrome is an autoimmune disease associated with a variety of symptoms, including thrombosis and obstetrical complications.
American college of rheumatology represents rheumatologists and rheumatology health professionals around the world and is committed to advancing rheumatology. The authors 2015 of thrombosis among patients with. Diagnosis and management of the antiphospholipid syndrome. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels. Predisposes to arterial and microvascular thrombosis, as well as venous thromboembolism, and can affect any vessel in the body. Antiphospholipid syndrome aps is a disorder that manifests clinically as recurrent venous or arterial thrombosis andor fetal loss. Antiphospholipid syndrome is an autoimmune systemic disorder characterized by arterial, venous, or small vessel thrombosis andor recurrent early pregnancy loss, fetal loss, or pregnancy morbidity in the setting of documented persistent antiphospholipid antibodies that include the lupus anticoagulant, or moderatehigh titer anticardiolipin, or anti. With antiphospholipid syndrome astroaps is a phase iv pilot study designed to provide data regarding the aspects of feasibility for enrolling patients with aps and to estimate. Pathogenetic mechanisms of antiphospholipid antibody. This report describes one the first cases of antiphospholipid syndrome and libmansacks endocarditis in a bioprosthetic valve. Aps may affect children from neonates to adolescents, and is likely underdiagnosed given that widelyused classification criteria were designed for adults. Antiphospholipid syndrome genetic and rare diseases.
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