Superior Ophthalmic Vein Thrombosis as an Initial Manifestation of Antiphospholipid Syndrome

Orbit ◽  
2013 ◽  
Vol 32 (1) ◽  
pp. 42-44 ◽  
Author(s):  
Moloy Dey ◽  
Adam Charles Bates ◽  
Philip McMillan
Keyword(s):  
Antiphospholipid Syndrome ◽  
Superior Ophthalmic Vein ◽  
Initial Manifestation ◽  
Vein Thrombosis

scholarly journals AB0008 APPLYING WHOLE EXOME SEQUENCING TO FAMILIAL ANTIPHOSPHOLIPID SYNDROME: NEW PLAYERS IN A RARE DISEASE?

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1039.1-1039
Author(s):  
A. Barinotti ◽  
M. Radin ◽  
I. Cecchi ◽  
S. G. Foddai ◽  
E. Rubini ◽  
...  
Keyword(s):  
Immune Response ◽  
Ischemic Stroke ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Antiphospholipid Syndrome ◽  
Missense Mutations ◽  
Literature Research ◽  
Missense Variants ◽  
Vein Thrombosis ◽  
Whole Exome

Background:Antiphospholipid Syndrome (APS) is an autoimmune disease whose precise aetiology is still unknown, but the high heterogeneity of its manifestations and clinical course is presumably due to the occurrence of different mechanisms and alterations at different levels and pathways [1]. The first genetic studies in APS focused primarily on the human leukocytes antigen system region, but more recent data highlighted a role of other genes in APS susceptibility, primarily those involved in the immune response and in the haemostatic process.Objectives:We aimed to deepen the investigation of APS genetic background starting from a case of familial APS, analysing two siblings with thrombotic APS (Table 1), both triple positive for antiphospholipid antibodies (aPL).Table 1.Main clinical and laboratory characteristics of the patients included in the study.PatientAgeaPL ProfileRelevant Clinical History1 (F)51Triple positive (LA, aCL IgG, aβ2GPI IgG)Two episodes of ischemic stroke, one episode of CAPS (renal thrombotic microangiopathy, visual impairment, ischemic stroke)2 (M)47Triple positive (LA, aCL IgG, aβ2GPI IgG)Three episodes of deep vein thrombosis, regardless ongoing well conducted therapy vitamin k antagonist and additional retinal vein thrombosisLA: lupus anticoagulant; aCL: anti-cardiolipin antibodies; aβ2GPI: anti- β2 glycoprotein I antibodies; CAPS: catastrophic APS.Methods:Genomic DNA was extracted from peripheral blood and the samples underwent Whole Exome Sequencing (WES). Sequencing was done on a 100X coverage, and reads have been aligned to the human reference genome (GRCh37/hg19 assembly) using the Burrows–Wheeler Alignment tool (BWA). The mean sequencing depth on target regions was 170X for patient 1, 205X for patient 2, moreover, 99.50% of the targeted bases had at least 10X coverage for all the three donors. The resulting single nucleotide polymorphisms (SNPs) have been analysed through a step-by-step process based on their frequency population (using Genome Aggregation Database), their predicted effects on the protein (using VarSome) and a literature research about the genes carrying them. Moreover, genes previously associated with a pro-thrombotic tendency and with APS have been analysed in the two patients.Results:Starting from more than 120000 SNPs for each patients, the analysis led to reduce the list of SNPs of interest to 27 missense mutations. The complete literature research regarding the genes carrying these mutations allowed to further reduce the number of selected genes, focusing on those that exert a role potentially involved in APS pathogenesis and development. In particular, these genes (PLA2G6, HSPG2, BCL3, ZFAT, ATP2B2, CRTC3 and ADCY3) take part in the immune response and the vascular homeostasis. The list of the DNA missense variants of interest found in our cases of familial APS is resumed in Figure 2.Figure 2.List of DNA missense variants of interest found in patient 1 and 2. Genes potentially involved in APS pathogenesis and development are highlighted in bold.No mutations on genes known to be associated with a pro-thrombotic state (F5, F2, MTHFR, F13A1, PROC, PROS1, FGB and SERPINE1), or on genes previously associated with APS (B2GPI, PF4V1, SELP, TLR2, TLR4, GP Ia, GP1BA, F2R, F2RL1, TFPI, F3, VEGFA, FLT1, and TNF) have been found in the WES analysis.Conclusion:To some extent, this can be seen as a proof of concept of the complexity of APS. Efforts to interpret the genetic risk factors involved in the heterogeneous clinical features of the syndrome, for instance, the integration of WES and network-based approaches might help to identify and stratify patients at risk of developing APS.References:[1]Iuliano A, Galeazzi M, Sebastiani GD. Antiphospholipid syndrome’s genetic and epigenetic aspects. Autoimmun Rev. 2019;18(9).Disclosure of Interests:None declared

Antiphospholipid Antibodies and Antiphospholipid Syndrome: Role in Portal Vein Thrombosis in Patients With and Without Liver Cirrhosis

2010 ◽  
Vol 17 (4) ◽  
pp. 367-370 ◽  
Author(s):  
Lucio Amitrano ◽  
Paul R. J. Ames ◽  
Maria Anna Guardascione ◽  
Luis R. Lopez ◽  
Antonella Menchise ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Portal Vein ◽  
Portal Vein Thrombosis ◽  
Antiphospholipid Syndrome ◽  
Antiphospholipid Antibodies ◽  
Vein Thrombosis

scholarly journals Superior and Inferior Ophthalmic Vein Thrombosis in the Setting of Lung Cancer

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Nawal Habib ◽  
Kimberly Lessard
Keyword(s):  
Sinus Thrombosis ◽  
Abrupt Onset ◽  
Medical Emergency ◽  
Newly Diagnosed ◽  
Superior Ophthalmic Vein ◽  
Carotid Cavernous Fistula ◽  
Management Options ◽  
Vein Thrombosis ◽  
Autoimmune Conditions ◽  
Prompt Diagnosis

Superior ophthalmic vein thrombosis is extremely rare and is often associated with orbital inflammation/infection, systemic/local tumors, hypercoagulable states, autoimmune conditions, and rarely carotid cavernous fistula. Clinical features include abrupt onset of painful proptosis, chemosis, ophthalmoplegia, and diminished visual acuity. Prompt diagnosis and treatment are essential to prevent permanent blindness. Management options for this medical emergency include antibiotics, steroids, and/or anticoagulation. We present a case of superior ophthalmic vein thrombosis with left cavernous sinus thrombosis in the setting of newly diagnosed malignancy.

scholarly journals Cerebral Vein Thrombosis in the Antiphospholipid Syndrome: Analysis of a Series of 27 Patients and Review of the Literature

2021 ◽  
Vol 11 (12) ◽  
pp. 1641
Author(s):  
Alba Jerez-Lienas ◽  
Alexis Mathian ◽  
Jenifer Aboab ◽  
Isabelle Crassard ◽  
Miguel Hie ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Medical Records ◽  
Case Reports ◽  
Case Series ◽  
Autoimmune Disorder ◽  
Point Of View ◽  
Cerebral Vein ◽  
Review Of The Literature ◽  
Cerebral Vein Thrombosis ◽  
Vein Thrombosis

(1) Background: The Antiphospholipid Syndrome (APS) is a systemic autoimmune disorder characterized by arterial and/or venous thrombosis, pregnancy morbidity and raised titers of antiphospholipid antibodies. Cerebral vein thrombosis (CVT) is a rare form of cerebrovascular accident and an uncommon APS manifestation; the information in the literature about this feature consists of case reports and small case series. Our purpose is to describe the particular characteristics of CVT when occurs as part of the APS and compare our series with the patients published in the literature. (2) Methods: We conducted a retrospective observational study collecting data from medical records in three referral centers for APS and CVT, and a systematic review of the literature for CVT cases in APS patients. (3) Results: Twenty-seven APS patients with CVT were identified in our medical records, the majority of them diagnosed as primary APS and with the CVT being the first manifestation of the disease; additional risk factors for thrombosis were identified. The review of the literature yielded 86 cases, with similar characteristics as those of our retrospective series. (4) Conclusions: To our knowledge, our study is the largest CVT series in APS patients published to date, providing a unique point of view in this rare thrombotic manifestation.

Bilateral superior ophthalmic vein thrombosis associated with high altitude

Orbit ◽  
2020 ◽  
pp. 1-5
Author(s):  
Abtin Shahlaee ◽  
Lauren M. Hennein ◽  
Bryan J. Winn ◽  
William P. Dillon ◽  
Nailyn Rasool
Keyword(s):  
High Altitude ◽  
Superior Ophthalmic Vein ◽  
Vein Thrombosis
Sign in / Sign up

Export Citation Format

Share Document