Antiphospholipid Antibody Syndrome in Childhood
To learn about the definition, classification criteria, the presentation and differences between the primary and secondary antiphospholipid antibody syndrome
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Mojca Zajc Avramovič and Tadej Avčin
Learning Objectives
1. To learn about the definition, classification criteria, the presentation and differences between the primary and secondary antiphospholipid antibody syndrome 2. To review the management and outcomes for these children
Introduction The antiphospholipid syndrome (APS) is a multisystem autoimmune disorder characterised by occurrence of arterial and venous thrombosis and pregnancy morbidity associated with persistently elevated titres of antiphospholipid antibodies (aPL). It can present with various other manifestations, most frequently haematologi-
M.Z. Avramovič Department of Allergology, Rheumatology and Clinical Immunology, Children’s Hospital, University Medical Center, Bohoričeva 20, Ljubljana SI-1525, Slovenia T. Avčin, MD, PhD (*) Department of Allergology, Rheumatology and Clinical Immunology, Children’s Hospital, University Medical Center, Bohoričeva 20, Ljubljana SI-1525, Slovenia e-mail: [email protected]
cal, dermatological and neurological. APS in the pediatric populations can develop in the neonatal period due to transplacental transmission of maternal aPL or anytime later in childhood and adolescence due to de novo production of aPL. APS is considered primary when there is no known underlying condition, or it could be associated with an underlying disease, most commonly with systemic lupus erythematosus (SLE) [1–3]. APS has been recognised as the most common acquired hypercoagulation state of autoimmune aetiology and should be considered in any child with a thrombosis [3]. Characteristically, APS manifests as an interplay of different prothrombotic factors acting in concert.
Case Vignette 1
An otherwise healthy 15-year-old boy presented with a history of continuous pain and swelling of the right leg for the last 2 days. Ultrasound Doppler and contrast venography confirmed deep vein thrombosis with a clot in the right femoral vein and right iliac vein. Anticoagulation was started with the resolution of the thrombus, while diagnostic workup continued in the tertiary centre. Differential diagnosis in a child with thrombosis includes antiphospholipid syndrome. On laboratory evaluation all three subsets of antiphospholipid antibodies
© Springer Science+Business Media Singapore 2017 S. Sawhney, A. Aggarwal (eds.), Pediatric Rheumatology, DOI 10.1007/978-981-10-1750-6_28
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(aPL) were detected, specifically anticardiolipin antibodies (aCL) immunoglobulin G (IgG) isotype in a high titre, antibodies against β2 glycoprotein I (anti-β2 GPIs), IgG isotype in a very high titre and a positive lupus anticoagulant (LA). There were no clinical signs of an underlying systemic autoimmune disease, but antinuclear antibodies (ANA) were present in a high titre of 1:160. The diagnosis of primary antiphospholipid syndrome was established, and thrombophilia workup revealed presence of additional prothrombotic risk factor heterozygosity for methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. The patient was kept on a long-term anticoag
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