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Disease Info

Disease:  Antiphospholipid Syndrome

Antiphospholipid Syndrome (APS)

Definition 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 sticky blood syndrome because of the increased tendency to form blood clots both in veins and arteries of any organ and system.

Types APS can be primary or can complicate SLE or other autoimmune diseases.

Clinical manifestations 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.

Diagnosis 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.

Therapy The therapy is based on aspirin or anticoagulants and hydroxychloroquine; sometimes immunosuppressants are needed.

Angela Tincani

Senior Disease Coordinator

Silvia
Aguilera

ePAG representative


Webinar
on pregnancy
in rCTDs
by Silvia Aguilera
and Marta Mosca

Junior Disease Coordinator

APS Patients’ organisations

LIST OF USEFUL REFERENCES

  1. New APS Classification Criteria Collaborators. Development of a New International Antiphospholipid Syndrome Classification Criteria Phase I/II Report: Generation and Reduction of Candidate Criteria
    Barbhaiya M, Zuily S, Ahmadzadeh Y, Amigo MC, Avcin T, Bertolaccini ML, Branch DW, de Jesus G, Devreese KMJ, Frances C, Garcia D, Guillemin F, Levine SR, Levy RA, Lockshin MD, Ortel TL, Seshan SV, Tektonidou M, Wahl D, Willis R, Naden R, Costenbader K, Erkan D; New APS Classification Criteria Collaborators.
    Arthritis Care Res (Hoboken). 2021 Oct;73(10):1490-1501.
  2. Use of Direct Oral Anticoagulants in Patients With Antiphospholipid Syndrome: A Systematic Review and Comparison of the International Guidelines
    Pastori D, Menichelli D, Cammisotto V, Pignatelli P.
    Front Cardiovasc Med. 2021 Aug 3;8:715878.
  3. 16th International congress on antiphospholipid antibodies task force report on clinical manifestations of antiphospholipid syndrome
    Sciascia S, Radin M, Cecchi I, Levy RA, Erkan D.
    Lupus. 2021 Jul;30(8):1314-1326.
  4. EULAR recommendations for the management of antiphospholipid syndrome in adults
    Tektonidou MG, Andreoli L, Limper M, Amoura Z, Cervera R, Costedoat-Chalumeau N, et al.
    Ann Rheum Dis. 2019;78:1296-1304.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. International consensus guidelines on anticardiolipin and anti- 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.

  1. 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.
  2. Antiphospholipid syndrome: an update for clinicians and scientists
    Vreede AP, Bockenstedt PL, Knight JS.
    Curr Opin Rheumatol. 2017 Sep;29(5):458-466.
  3. 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.
  4. Antiphospholipid syndrome
    Cervera R.
    Thromb Res. 2017 Mar;151 Suppl 1:S43-S47.
  5. Pregnancy and Antiphospholipid Syndrome
    Schreiber K, Hunt BJ.
    Semin Thromb Hemost. 2016 Oct;42(7):780-788.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.

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