Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous?

Giansily‐Blaizot, Muriel; Marty, Sophie; Chen, Shu‐wen W.; Pellequer, Jean‐Luc; Schved, Jean‐François

doi:10.1016/j.thromres.2012.08.273

Cited by 18 publications

(22 citation statements)

References 18 publications

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“…The phenotype associated with the p.Leu357Phe mutation at the homozygous state showed a very low level of FVII:C without any significant decrease in FVII:Ag, suggesting that this mutation is also responsible for pure qualitative deficiency. The huge decrease in residual FVII:C levels observed in patient 1, bearing the p.Leu357Phe mutation, confirmed that this solvent‐exposed loop holds a great importance in FVII function . Moreover, phylogenetic studies showed that Leu 357 was particularly conserved during species evolution.…”

Section: Discussionmentioning

confidence: 67%

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

et al. 2013

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Inherited factor VII (FVII) deficiency is one of the commonest rare bleeding disorders. It is characterized by a wide molecular and clinical heterogeneity and an autosomal recessive pattern of inheritance. Factor VII-deficient patients are still scarcely explored in Pakistan although rare bleeding disorders became quite common as a result of traditional consanguineous marriages. The aim of the study was to give a first insight of F7 gene mutations in Pakistani population. Ten unrelated FVII-deficient patients living in Pakistan were investigated (median FVII:C = 2%; range = 2-37%). A clinical questionnaire was filled out for each patient and direct sequencing was performed on the coding regions, intron/exon boundaries and 5' and 3' untranslated regions of the F7 gene. Nine different mutations (eight missense mutations and one located within the F7 promoter) were identified on the F7 gene. Five of them were novel (p.Cys82Tyr, p.Cys322Ser, p.Leu357Phe, p.Thr410Ala, c-57C>T, the last being predicted to alter the binding site of transcription factor HNF-4). Half of the patients had single mutations in Cys residues involved in disulfide bridges. The p.Cys82Arg mutation was the most frequent in our series. Six of seven patients with FVII:C levels below 10% were homozygous in connection with the high percentage of consanguinity in our series. In addition, we graded the 10 patients according to three previously published classifications for rare bleeding disorders. The use of the bleeding score proposed by Tosetto and co-workers in 2006 appears to well qualify the bleeding tendency in our series.

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Section: Discussionmentioning

confidence: 67%

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

et al. 2013

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“…Approximately 60% of cases in the US and Greifswald F7D registries were asymptomatic and were identified after an abnormal PT test (Acharya et al , ; Herrmann et al , ). Reports of venous thrombosis in F7D have uncertain significance (Giansily‐Blaizot et al , ).…”

Section: Factor VII Deficiencymentioning

confidence: 99%

Guideline for the diagnosis and management of the rare coagulation disorders

et al. 2014

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“…For example, DVT, splanchnic thrombosis and arterial thrombosis have been reported even in patients with severe FVII deficiency [169,170,171].…”

Section: Discussionmentioning

confidence: 99%

“…Elevated FVII levels have been shown by some studies to be linked to cardiovascular disease [174,175]. Another hypothesis is that polymorphisms such as Arg294Val and FVII Padua favor a second type of FVIIa, which binds TF more than the usual form [170]. Whether the Arg353Gln polymorphism, prominent in the present cohort, is linked to increased risk for a cardiovascular episode is controversial; some studies [176,177] showed no significant association with cardiovascular disease, whereas others [178,179] showed a slightly decreased risk for myocardial infarction.…”

Section: Discussionmentioning

confidence: 99%

Thrombin generation in different cohorts: Evaluation of the haemostatic potential

Chaireti¹

2013

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Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous?

Cited by 18 publications

References 18 publications

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency

Guideline for the diagnosis and management of the rare coagulation disorders

Thrombin generation in different cohorts: Evaluation of the haemostatic potential

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