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Disease:  Antiphospholipid Syndrome

Antiphospholipid Syndrome (APS)

Antiphospholipid syndrome (APS) is a systemic autoimmune disease with the highest prevalence in women of childbearing age, characterized by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies (aPL). aPL are able to activate the coagulation system; indeed, APS is called ìsticky blood syndrome,î because of the increased tendency to form blood clots both in veins and arteries of any organ and system. APS can be primary or can complicate SLE or other autoimmune diseases. One of the most serious complications of APS occurs when clots form in the brain, causing strokes. In a small minority of patients, multi-organ failure, due to diffuse clotting in small vessels and a massive immune response, develops within days, leading to the so-called catastrophic antiphospholipid syndrome (CAPS).

Other symptoms and complications of APS include a characteristic lacy, net-like red skin rash (livaedo reticularis), heart valve abnormalities (Libman Sacks endocarditis), kidney dysfunction and thrombocytopenia. Neurological symptoms include headache, dementia and seizures. Infrequently, individuals may develop chorea (a movement disorder in which the body and limbs writhe uncontrollably), cognitive dysfunction (such as poor memory), transverse myelitis, depression or psychosis, optic neuropathy, or sudden hearing loss. Pregnancy complications include recurrent miscarriages, stillbirth, pre-eclampsia. APS is diagnosed by the presence of aPL positivity together with a history of either arterial or venous thrombosis, or one or more of the aforementioned pregnancy troubles. The therapy is based on aspirin or anticoagulants and hydroxychloroquine; sometimes immunosuppressants are needed.

Disease_APS
Disease_APS

LIST OF USEFUL REFERENCES

1. Prophylaxis of the antiphospholipid syndrome: a consensus report
Alarcón-Segovia D, Boffa MC, Branch W, Cervera R, Gharavi A, Khamashta M, et al.
Lupus. 2003;12(7):499-503.

2. EULAR recommendations for women’s health and the management of family planning, assisted reproduction, pregnancy and menopause in patients with systemic lupus erythematosus and/or antiphospholipid syndrome
Andreoli L, Bertsias GK, Agmon-Levin N, Brown S, Cervera R, Costedoat-Chalumeau N, et al.
Ann Rheum Dis. 2017 Mar;76(3):476-485.

3. Catastrophic antiphospholipid syndrome: international consensus statement on classication criteria and treatment guidelines
Asherson RA, Cervera R, de Groot PG, Erkan D, Boffa MC, Piette JC, et al.
Lupus. 2003;12(7):530-4.

4. VTE, Thrombophilia, Antithrombotic Therapy, and Pregnancy : Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines
Bates SM, Greer IA, Middeldorp S, Veenstra DL, Prabulos A-M, Vandvik PO.
Chest. 2012 Feb;141(2):e691S-e736S.

5. 14th International Congress on Antiphospholipid Antibodies Task Force. Report on antiphospholipid syndrome laboratory diagnostics and trends
Bertolaccini ML, Amengual O, Andreoli L, Atsumi T, Chighizola CB, Forastiero R, et al.
Autoimmun Rev. 2014 Sep;13(9):917-30.

6. EULAR recommendations for the management of systemic lupus erythematosus with neuropsychiatric manifestations: report of a task force of the EULAR standing committee for clinical affairs
Bertsias GK, Ioannidis JPA, Aringer M, Bollen E, Bombardieri S, Bruce IN, et al.
Ann Rheum Dis. 2010 Dec;69(12):2074-82.

7. EULAR recommendations for the management of systemic lupus erythematosus. Report of a Task Force of the EULAR Standing Committee for International Clinical Studies Including Therapeutics
Bertsias G, Ioannidis JPA, Boletis J, Bombardieri S, Cervera R, Dostal C, et al.
Ann Rheum Dis. 2008 Feb;67(2):195-205.

8. Update on Antiphospholipid Syndrome: Ten Topics in 2017
Cavazzana I, Andreoli L, Limper M, Franceschini F, Tincani A.
Curr Rheumatol Rep. 2018 Mar 15;20(3):15.

9. Antiphospholipid syndrome
Cervera R.
Thromb Res. 2017 Mar;151 Suppl 1:S43-S47.

10. Evidence based treatment of the antiphospholipid syndrome II. Optimal anticoagulant therapy for thrombosis
Crowther MA, Wisloff F.
Thromb Res. 2005;115(1-2):3-8.

11. 14th International Congress on Antiphospholipid Antibodies Task Force report on obstetric antiphospholipid syndrome
de Jesus GR, Agmon-Levin N, Andrade CA, Andreoli L, Chighizola CB, Porter TF, Salmon J, Silver RM, Tincani A, Branch DW.
Autoimmun Rev. 2014 Aug;13(8):795-813.

12. European evidence-based recommendations for diagnosis and treatment of paediatric antiphospholipid syndrome: the SHARE initiative
Groot N, de Graeff N, Avcin T, Bader-Meunier B, Dolezalova P, Feldman B, et al.
Ann Rheum Dis. 2017 Oct;76(10):1637-1641.

13. European evidence-based recommendations for diagnosis and treatment of childhood-onset systemic lupus erythematosus: the SHARE initiative
Groot N, Graeff N de, Avcin T, Bader-Meunier B, Brogan P, Dolezalova P, et al.
Ann Rheum Dis. 2017 Nov;76(11):1788-1796.

14. Mechanisms of thrombosis in systemic lupus erythematosus and antiphospholipid syndrome
de Groot PG, de Laat B.
Best Pract Res Clin Rheumatol. 2017 Jun;31(3):334-341.

15. Pregnancy loss: French clinical practice guidelines
Huchon C, Deffieux X, Beucher G, Capmas P, Carcopino X, Costedoat-Chalumeau N, et al.
Eur J Obstet Gynecol Reprod Biol. 2016 Jun;201:18-26.

16. Guidelines on the investigation and management of antiphospholipid syndrome
Keeling D, Mackie I, Moore GW, Greer IA, Greaves M.
Br J Haematol. 2012 Apr;157(1):47-58.

17. Venous thromboembolism in the antiphospholipid syndrome: management guidelines for secondary prophylaxis
Meroni PL, Moia M, Derksen RH, Tincani A, McIntyre JA, Arnout JM, et al.
Lupus. 2003;12(7):504-7.

18. International consensus guidelines on anticardiolipin and anti-fl 2-glycoprotein i testing: Report from the 13th International Congress on Antiphospholipid Antibodies
Lakos G, Favaloro EJ, Harris EN, Meroni PL, Tincani A, Wong RC, et al.
Arthritis Rheum. 2012 Jan;64(1):1-10.

19. The relevance of “non-criteria” clinical manifestations of antiphospholipid syndrome: 14th International Congress on Antiphospholipid Antibodies Technical Task Force Report on Antiphospholipid Syndrome Clinical Features
Abreu MM, Danowski A, Wahl DG, Amigo MC, Tektonidou M, Pacheco MS, et al.
Autoimmun Rev. 2015 May;14(5):401-14.

20. Update of the guidelines for lupus anticoagulant detection
Pengo V, Tripodi A, Reber G, Rand JH, Ortel TL, Galli M, et al.
J Thromb Haemost. 2009 Oct;7(10):1737-40.

21.Evidence-based recommendations for the prevention and long-term management of thrombosis in antiphospholipid antibody-positive patients: report of a task force at the 13th International Congress on antiphospholipid antibodies
Ruiz-Irastorza G, Cuadrado MJ, Ruiz-Arruza I, Brey R, Crowther M, Derksen R, et al.
Lupus. 2011 Feb;20(2):206-18.

22. Pregnancy and Antiphospholipid Syndrome
Schreiber K, Hunt BJ.
Semin Thromb Hemost. 2016 Oct;42(7):780-788.

23. Antiphospholipid syndrome: an update for clinicians and scientists
Vreede AP, Bockenstedt PL, Knight JS.
Curr Opin Rheumatol. 2017 Sep;29(5):458-466.

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