High Levels of Fviii and Fix in a Pediatric Patient With Retinal Artery Occlusion

Akar, Nejat; Gökçe, Hafize

doi:10.1080/08880010290108726

Cited by 6 publications

(8 citation statements)

References 11 publications

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“…8,10,12,15,19,23 In our recent study of 9 CRAO patients, 3 (33%) had low (<73%) protein C versus 2/37 controls (5%), P = .044 23 ; 2 had high (≥13.5 umol/L) homocysteine versus 0/42 controls (0%), P = .028 23 ; and 4 had the lupus anticoagulant (44%) versus 4/33 (12%) controls, P = .05. 23 In the absence of carotid atherosclerosis, thrombophilias often cause amaurosis fugax.…”

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confidence: 98%

Ocular Vascular Thrombotic Events: A Diagnostic Window to Familial Thrombophilia (Compound Factor V Leiden and Prothrombin Gene Heterozygosity) and Thrombosis

Glueck

Wang

2007

Clin Appl Thromb Hemost

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In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis. The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations. His symptoms resolved only after coumadin. His 44-year-old brother (deep venous thrombosis [DVT]) and 46-year-old sister (DVT, pulmonary embolus [PE]) were compound FVL-PTG gene heterozygotes. Of 4 asymptomatic children born to these 3 siblings, 2 were FVL heterozygotes and 2 PTG heterozygotes. The proband's 69-year-old father, with NAION and ischemic stroke, had PTG heterozygosity, familial high factor VIII, and compound MTHFR C677T-A1298C mutation with homocysteinemia. The proband's 61-year-old aunt had PTG heterozygosity, recurrent DVT, and mesenteric artery thrombosis. The proband's 67-year-old mother, free of thrombotic events, was a FVL heterozygote, had high factor VIII, and PAI-1 4G4G homozygosity. In this extended kindred, ocular thrombotic events (amaurosis fugax, NAION) were associated with variegated thrombotic events, including TIA, ischemic stroke, DVT, PE, and mesenteric artery thrombosis, and opened a diagnostic window to family screening and treatment for complex thrombophilias, which had previously been undiagnosed.

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confidence: 98%

Ocular Vascular Thrombotic Events: A Diagnostic Window to Familial Thrombophilia (Compound Factor V Leiden and Prothrombin Gene Heterozygosity) and Thrombosis

Glueck

Wang

2007

Clin Appl Thromb Hemost

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“…Tumouremboli cannotbecompletelyexcluded sincewedonot haveanypathologyoftheocclusions.However,the lung metastasesdidnotinvadepulmonary veins,whichisaprerequisitefor aspreadtothe systemiccirculation. Moreover,duringfollowup andl ong-termtreatmentw ithheparin,non ewocclusionsoccurred,althoughthetumourandmetastasesremained in situ.The elevatedlevelsoffactorVIII and lipoprotein(a)could havecontributed tothe arterialthrombosis (11,12). However,the unusual clinicalpresentation of our patientandthe negativefamilyhistory make itunlikelythatthe increased factorVIII and lipoprotein( a)werethe onlyexplanationf orthe arterialthrombosis.…”

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confidence: 75%

A child with multifocal arterial thrombosis

Gestel

Merks²,

Lo³

et al. 2005

Thromb Haemost

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“…Functional polymorphisms in the EPCR gene may increase/decrease the risk of thrombosis, especially in carriers of prothrombotic mutations [20]. Familial clustering of high factor VIII levels in patients with venous and arterial thromboembolism and retinal artery occlusion were reported in Orhon et al sEPCR and FVIII levels in infants Turk J Hematol 2011;28: 27-32 previous studies [21][22][23]. These findings have pointed to genetic influences on these mediator levels.…”

Section: Discussionmentioning

confidence: 77%

The relation between soluble endothelial protein C receptor and factor VIII levels and FVIII/sEPCR index in healthy infants

Orhon¹,

Eğin²,

Ulukol³

et al. 2011

Turk J Hematol

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Objective: Both soluble endothelial protein C receptor (sEPCR) and factor VIII (FVIII) seem to be potential mediators in thrombotic and inflammatory states. The aim of the present study was to determine the relation between plasma sEPCR and FVIII levels in a group of healthy Turkish infants. Materials and Methods: The study population consisted of 50 healthy infants aged 6 months (Group 1, n=23) and 12 months (Group 2, n=27) having no acute or chronic infection and/or disease. sEPCR levels and FVIII levels were measured by ELISA and one stage factor assay method, respectively. Results: The sEPCR levels of the infants aged 6 months were found higher than those of the infants aged 12 months (p<0.001). There was a correlation between sEPCR and FVIII levels of the infants in Group 1 (6-month-old infants) (r=0.678, p<0.001). FVIII/sEPCR index was 0.73±0.3 and 1.0±0.5 in Group 1 and Group 2, respectively (p=0.027). A correlation between infant age and FVIII/sEPCR index was found (r=0.312, p=0.027). Conclusion: The FVIII/sEPCR index in healthy infants reflects the physiological condition of this population. The finding showing a positive relationship between sEPCR and FVIII levels suggests a possible interaction between these mediators in healthy infants aged six months. (Turk J Hematol 2011; 28: 27-32) Key words: Soluble endothelial protein C receptor (sEPCR), factor VIII, healthy infants, thrombosis

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High Levels of Fviii and Fix in a Pediatric Patient With Retinal Artery Occlusion

Abstract: A 13-year-old female patient with the diagnosis of retinal artery occlusion was evaluated for thrombophilia. The data revealed high FVIII and FIX levels. The patient had familial clustering. The data indicate that elevated FVIII and FIX could be a risk factor for thrombosis.

Cited by 6 publications

References 11 publications

Ocular Vascular Thrombotic Events: A Diagnostic Window to Familial Thrombophilia (Compound Factor V Leiden and Prothrombin Gene Heterozygosity) and Thrombosis

Ocular Vascular Thrombotic Events: A Diagnostic Window to Familial Thrombophilia (Compound Factor V Leiden and Prothrombin Gene Heterozygosity) and Thrombosis

A child with multifocal arterial thrombosis

The relation between soluble endothelial protein C receptor and factor VIII levels and FVIII/sEPCR index in healthy infants

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