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Lupus anticoagulant

MedGen UID:
1370558
Concept ID:
C4321325
Finding
HPO: HP:0025343

Definition

Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLupus anticoagulant

Conditions with this feature

Familial antiphospholipid syndrome
MedGen UID:
419641
Concept ID:
C2930802
Disease or Syndrome
The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; 138700). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by Matthey et al., 1989). Shoenfeld et al. (2008) noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome. Ruiz-Irastorza et al. (2010) reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome. Various autoimmune disorders that cluster in families, including autoimmune thrombocytopenia (188030), are discussed elsewhere (e.g., 109100, 269200).
Vasculitis due to ADA2 deficiency
MedGen UID:
854497
Concept ID:
C3887654
Disease or Syndrome
Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.
Autoinflammatory syndrome, familial, Behcet-like 1
MedGen UID:
898541
Concept ID:
C4225218
Disease or Syndrome
Haploinsufficiency of A20 (HA20), a complex immune dysregulation disease, is characterized by recurrent systemic immune dysfunction (i.e., inflammation and/or immune deficiency). The most common manifestations and their frequency include: (1) recurrent painful oral/genital ulcers, typically during disease flares (>70% of persons); (2) recurrent fevers (~50%), typically lasting for three to seven days that can rarely progress to a cytokine storm and/or hemophagocytic lymphohistiocytosis; (3) skin involvement (~40%), including pustular rashes, folliculitis, vasculitic purpura, urticaria, lupus-like macular rashes, and eczematoid dermatitis; (4) gastrointestinal disease (~40%), ranging from dull abdominal pain (due to serositis, ulcers, or bowel inflammation) to severe inflammation with risk of bowel perforation; and (5) arthralgia/arthritis (~34%), typically relapsing and/or remitting nonerosive inflammatory polyarthritis with synovitis, and rarely resembling rheumatoid arthritis or psoriatic-like erosions. Other less common but significant findings include lymphoproliferation, most often lymphadenopathy; liver involvement, including severe hepatitis that if untreated can progress to cirrhosis and liver failure; neurologic disease including central nervous system vasculitis/vasculopathy (manifesting as severe headaches and cognitive changes) and in some individuals transient ischemic attacks. Other findings include aseptic meningitis, mononeuritis multiplex, chronic inflammatory demyelinating polyradiculoneuropathy, and/or peripheral neuropathy. HA20 demonstrates both variable expressivity (i.e., different systems may be involved simultaneously and/or over time in an affected individual) and intrafamilial variability (i.e., variability in clinical presentation among affected individuals within the same immediate or extended family).
Autoinflammatory disease, systemic, with vasculitis
MedGen UID:
1841161
Concept ID:
C5830525
Disease or Syndrome
Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis).

Professional guidelines

PubMed

Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesús G, Delluc A, Desai S, Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-García A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators
Ann Rheum Dis 2023 Oct;82(10):1258-1270. Epub 2023 Aug 28 doi: 10.1136/ard-2023-224609. PMID: 37640450
Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesus G, Delluc A, Desai S, De Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-Garcia A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators
Arthritis Rheumatol 2023 Oct;75(10):1687-1702. Epub 2023 Aug 28 doi: 10.1002/art.42624. PMID: 37635643
Chaturvedi S, McCrae KR
Blood Rev 2017 Nov;31(6):406-417. Epub 2017 Jul 30 doi: 10.1016/j.blre.2017.07.006. PMID: 28784423Free PMC Article

Recent clinical studies

Etiology

Cohen H, Efthymiou M, Devreese KMJ
J Thromb Haemost 2021 Apr;19(4):892-908. Epub 2021 Feb 20 doi: 10.1111/jth.15217. PMID: 33325604
Sammaritano LR
Best Pract Res Clin Rheumatol 2020 Feb;34(1):101463. Epub 2019 Dec 19 doi: 10.1016/j.berh.2019.101463. PMID: 31866276
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Molhoek JE, de Groot PG, Urbanus RT
Semin Thromb Hemost 2018 Jul;44(5):445-452. Epub 2017 Sep 12 doi: 10.1055/s-0037-1606190. PMID: 28898901
Carmi O, Berla M, Shoenfeld Y, Levy Y
Expert Rev Hematol 2017 Apr;10(4):365-374. Epub 2017 Mar 13 doi: 10.1080/17474086.2017.1300522. PMID: 28277850

Diagnosis

Devreese KMJ, de Groot PG, de Laat B, Erkan D, Favaloro EJ, Mackie I, Martinuzzo M, Ortel TL, Pengo V, Rand JH, Tripodi A, Wahl D, Cohen H
J Thromb Haemost 2020 Nov;18(11):2828-2839. doi: 10.1111/jth.15047. PMID: 33462974
Sammaritano LR
Best Pract Res Clin Rheumatol 2020 Feb;34(1):101463. Epub 2019 Dec 19 doi: 10.1016/j.berh.2019.101463. PMID: 31866276
Pengo V, Bison E, Banzato A, Zoppellaro G, Jose SP, Denas G
Methods Mol Biol 2017;1646:169-176. doi: 10.1007/978-1-4939-7196-1_14. PMID: 28804828
Cardoso F
J Neurol Neurosurg Psychiatry 2017 May;88(5):412-417. Epub 2016 Dec 1 doi: 10.1136/jnnp-2016-314475. PMID: 27919056
Pasquali JL, Poindron V, Korganow AS, Martin T
Best Pract Res Clin Rheumatol 2008 Oct;22(5):831-45. doi: 10.1016/j.berh.2008.08.008. PMID: 19028366

Therapy

Arachchillage DJ, Crossette-Thambiah C, Laffan M
Semin Thromb Hemost 2022 Jul;48(5):628-630. Epub 2022 Jul 26 doi: 10.1055/s-0042-1750045. PMID: 35882249
Petri M
Transl Res 2020 Nov;225:70-81. Epub 2020 May 12 doi: 10.1016/j.trsl.2020.04.006. PMID: 32413497Free PMC Article
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Pengo V, Bison E, Banzato A, Zoppellaro G, Jose SP, Denas G
Methods Mol Biol 2017;1646:169-176. doi: 10.1007/978-1-4939-7196-1_14. PMID: 28804828
Chaturvedi S, McCrae KR
Blood Rev 2017 Nov;31(6):406-417. Epub 2017 Jul 30 doi: 10.1016/j.blre.2017.07.006. PMID: 28784423Free PMC Article

Prognosis

Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Devreese KMJ, Ortel TL, Pengo V, de Laat B; Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibodies
J Thromb Haemost 2018 Apr;16(4):809-813. Epub 2018 Mar 13 doi: 10.1111/jth.13976. PMID: 29532986
Chaturvedi S, McCrae KR
Blood Rev 2017 Nov;31(6):406-417. Epub 2017 Jul 30 doi: 10.1016/j.blre.2017.07.006. PMID: 28784423Free PMC Article
Carmi O, Berla M, Shoenfeld Y, Levy Y
Expert Rev Hematol 2017 Apr;10(4):365-374. Epub 2017 Mar 13 doi: 10.1080/17474086.2017.1300522. PMID: 28277850
Ruiz-Irastorza G, Crowther M, Branch W, Khamashta MA
Lancet 2010 Oct 30;376(9751):1498-509. Epub 2010 Sep 6 doi: 10.1016/S0140-6736(10)60709-X. PMID: 20822807

Clinical prediction guides

Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Devreese KMJ, Ortel TL, Pengo V, de Laat B; Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibodies
J Thromb Haemost 2018 Apr;16(4):809-813. Epub 2018 Mar 13 doi: 10.1111/jth.13976. PMID: 29532986
Pengo V, Bison E, Banzato A, Zoppellaro G, Jose SP, Denas G
Methods Mol Biol 2017;1646:169-176. doi: 10.1007/978-1-4939-7196-1_14. PMID: 28804828
Chaturvedi S, McCrae KR
Blood Rev 2017 Nov;31(6):406-417. Epub 2017 Jul 30 doi: 10.1016/j.blre.2017.07.006. PMID: 28784423Free PMC Article
Ruiz-Irastorza G, Crowther M, Branch W, Khamashta MA
Lancet 2010 Oct 30;376(9751):1498-509. Epub 2010 Sep 6 doi: 10.1016/S0140-6736(10)60709-X. PMID: 20822807

Recent systematic reviews

Walter IJ, Klein Haneveld MJ, Lely AT, Bloemenkamp KWM, Limper M, Kooiman J
Autoimmun Rev 2021 Oct;20(10):102901. Epub 2021 Jul 16 doi: 10.1016/j.autrev.2021.102901. PMID: 34280554
Hamulyák EN, Scheres LJ, Marijnen MC, Goddijn M, Middeldorp S
Cochrane Database Syst Rev 2020 May 2;5(5):CD012852. doi: 10.1002/14651858.CD012852.pub2. PMID: 32358837Free PMC Article
Abdel-Wahab N, Lopez-Olivo MA, Pinto-Patarroyo GP, Suarez-Almazor ME
Lupus 2016 Dec;25(14):1520-1531. Epub 2016 Apr 7 doi: 10.1177/0961203316640912. PMID: 27060064Free PMC Article
Duckitt K, Qureshi A
BMJ Clin Evid 2011 Feb 1;2011 PMID: 21718553Free PMC Article
Duckitt K, Qureshi A
BMJ Clin Evid 2008 Apr 14;2008 PMID: 19450314Free PMC Article

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