Antiphospholipid syndrome's genetic and epigenetic aspects

Iuliano, Annamaria; Gargiulo, Mauro; Sebastiani, Gian Domenico

doi:10.1016/j.autrev.2019.102352

Cited by 28 publications

(24 citation statements)

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“…In this setting, the simultaneous occurrence of venous and arterial thromboses, as reported in 3.7% of COVID-19 patients [10], should alert the clinicians towards a secondary aPL syndrome, whose catastrophic variant is precisely defined Asherson's syndrome from the rheumatologist Ronald Andrew Asherson [Dec 19, 1934, Cape Town (ZA)-May 06, 2008, Johannesburg (ZA)], who described the syndrome that bears his name in 1992 [11]. It exhibits hypercytokinemia, thrombotic microangiopathy, DIC and multiple organ failure, exactly as observed in our patient, it is burdened by a high mortality rate and, although its cause remains still unknown, viral infections have been identified like trigger factors in certain individuals with genetic predisposition correlated to human leukocyte antigen (HLA) polymorphisms (HLA-DR4, HLA-DR7, HLA-DRw53) [12]. Therefore, a routine testing for aPL antibodies in severe COVID-19 patients is recommended.…”

Section: Discussionsupporting

confidence: 68%

Abnormal immunothrombosis and lupus anticoagulant in a catastrophic COVID-19 recalling Asherson’s syndrome

Roncati

Corsi

Barbolini

2021

J Thromb Thrombolysis

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Background Coronavirus disease 2019 (COVID-19) is a complex disease with many clinicopathological aspects, including abnormal immunothrombosis, and the full comprehension of its pathogenetic mechanisms is urgently required. Methods/Results By means of a multidisciplinary approach, we here report a catastrophic COVID-19 in a 44-year-old Philippine male patient, discovered lupus anticoagulant (LAC)-positive shortly before death, occurred 8 days after hospitalization in a clinical scenario refractory to standard high acuity care recalling Asherson's syndrome (catastrophic antiphospholipid syndrome). Conclusion A parallelism between this severe form of COVID-19 and Asherson's syndrome can be so drawn. Both the diseases in fact exhibit hypercytokinemia, thrombotic microangiopathy, disseminated intravascular coagulation and multiple organ failure, they show a relationship with viral infections, and they are burdened by a high mortality rate. A genetic predisposition to develop these two overlapping conditions may be supposed. Keywords Coronavirus disease 2019 (COVID-19) • Abnormal immunothrombosis • Lupus anticoagulant (LAC) • Megakaryocytes • Antiphospholipid syndrome (Hughes syndrome) • Asherson's syndrome Highlights• COVID-19 is the most dramatic pandemic of the new millennium characterized by many clinicopathological facets, among which abnormal immunothrombosis • Abnormal immunothrombosis is a leading cause of COVID-19 related deaths, and its impact can be amplified by the presence of antiphospholipid autoantibodies, such as LAC • In this setting, the simultaneous occurrence of venous and arterial thromboses should alert the clinicians towards a secondary antiphospholipid syndrome, sometimes burdened by a catastrophic evolution in genetically predisposed patients • The catastrophic variant of a secondary antiphospholipid syndrome takes also the name of Asherson's syndrome, from the rheumatologist Ronald Andrew Asherson, who described it in 1992 • The implications of all this for future directions are in favor of a routine antiphospholipid testing in severe COVID-19 patients, and its introduction under intensive care as potential prognostic risk marker

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Section: Discussionsupporting

confidence: 68%

Abnormal immunothrombosis and lupus anticoagulant in a catastrophic COVID-19 recalling Asherson’s syndrome

Roncati

Corsi

Barbolini

2021

J Thromb Thrombolysis

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“…Apart from the distinctive features of each diseasewhich have been extensively reported in several recent reviewsa disruption in DNA methylation pattern with a tendency to an enhanced hypomethylation profile seems to be almost invariably present in the context of ARDs [107][108][109][110][111][112].…”

Section: Epigenetics In Autoimmune Rheumatic Diseasesmentioning

confidence: 86%

Epigenetics, pregnancy and autoimmune rheumatic diseases

Pacini

Paolino

Andréoli

et al. 2020

Autoimmunity Reviews

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“…Thirty-two organs (including the kidneys, the liver, the lungs, the colon, the cerebral cortex, and the gall bladder) express these genes, predisposing them to a higher risk of developing thrombosis [ 9 ]. Population studies on aPL in diseases other than primary APS, such as SLE, have shown an association with certain genetic patterns ( Table 2 ) [ 10 , 11 ]. MHC class II testing in our patient revealed a genotype highly susceptible to autoimmune diseases ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Successful Treatment of Catastrophic Antiphospholipid Syndrome Using Rituximab: Case Report and Review of the Literature

Stănescu

Andronesi

Jurcuţ³

et al. 2021

Medicina

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Background: Kidney involvement is a frequent complication of systemic lupus erythematosus (SLE) and kidney biopsy is essential in differentiating lupus nephritis (LN) from thrombotic microangiopathy (TMA) secondary to antiphospholipid autoantibodies (aPL). Association between antiphospholipid syndrome (APS) and acquired hemophilia due to inhibitors was very rarely described in SLE patients. Case presentation: We present the case of a 61-year-old male diagnosed with SLE who acquired deficiency of clotting factor VIII due to circulating inhibitors, admitted for acute kidney injury (AKI), microangiopathic hemolytic anemia, thrombocytopenia, and diplopia. Kidney biopsy showed TMA due to APS, but no signs of LN. Head computed tomography identified low dense areas in the white matter, suggesting small blood vessels’ involvement. A diagnosis of probable catastrophic antiphospholipid syndrome (CAPS) was established and treatment with low molecular weight heparin, intravenous methylprednisolone, plasmapheresis, and rituximab was initiated, followed by resolution of AKI, diplopia, and TMA with complete depletion of CD19+B-lymphocytes (CD19+B-Ly) after one month. We further review the current knowledge regarding pathogenesis and management of CAPS in SLE patients. Conclusions: Targeted therapy was possible after kidney biopsy, improving renal and general prognosis. CD19+B-Ly repopulation preceded biological relapse, so monitoring of CD19+B-Ly may serve as a tool to predict relapses and guide rituximab therapy.

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Antiphospholipid syndrome's genetic and epigenetic aspects

Cited by 28 publications

References 50 publications

Abnormal immunothrombosis and lupus anticoagulant in a catastrophic COVID-19 recalling Asherson’s syndrome

Abnormal immunothrombosis and lupus anticoagulant in a catastrophic COVID-19 recalling Asherson’s syndrome

Epigenetics, pregnancy and autoimmune rheumatic diseases

Successful Treatment of Catastrophic Antiphospholipid Syndrome Using Rituximab: Case Report and Review of the Literature

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