Congenital Bleeding Disorders of the Vitamin K‐Dependent Clotting Factors

Girolami, Antonio; Scandellari, Raffaella; Scapin, Margherita; Vettore, Silvia

doi:10.1016/s0083-6729(07)00014-3

Cited by 41 publications

(43 citation statements)

References 269 publications

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“…FVII deficiency is by far the most frequent defect encountered among the rare coagulation disorders [2,17]. It is therefore important to be able to carry out a preliminary evaluation using clotting tests as simple as PT, using thromboplastins of different origin.…”

Section: Discussionmentioning

confidence: 99%

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Ox Brain versus Rabbit Brain Thromboplastin Assays Are the Best Tool for a Preliminary Diagnosis of the Arg304Gln Factor VII Defect (FVII Padua)

et al. 2010

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Factor VII (FVII) deficiency, the most frequent defect among the rare bleeding disorders, is commonly divided into type I and type II. In the former, there is a concomitant decrease in FVII activity and antigen. In the latter, there is a clear discrepancy between activity which is low and antigen which is normal or nearly normal. FVII Padua (Arg304Gln) is characterized by different reactivity towards different tissue thromboplastins. FVII levels were assayed by the use of different tissue thromboplastins, namely rabbit brain, human placenta, human recombinant and ox brain thromboplastin, in 6 homozygous patients. Cases reported in the literature were also evaluated. Ox brain thromboplastins yielded normal values, whereas human tissue or recombinant human thromboplastins yielded only slightly higher levels of activity than those obtained with rabbit brain reagents. The ox brain versus rabbit brain ratio was about 22, whereas the ratio for human placenta or human recombinant versus rabbit brain thromboplastin was only about 5. The FVII antigen versus rabbit brain, human tissue and ox brain activity ratios were 24.8, 4.3 and 1.1, respectively. These results indicate that the ox brain versus the rabbit brain thromboplastin ratio supplies a wider difference than the one between human tissue and rabbit brain. The antigen/ox brain activity ratio of 1.1 fully confirms this assertion.

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Section: Discussionmentioning

confidence: 99%

“…The main laboratory and clinical features have already been described in detail [5,6,17]. Briefly, the defect is characterized by a prolonged PT and a variable decrease in FVII level, according to the thromboplastin used in the assay.…”

Section: Methodsmentioning

confidence: 99%

Ox Brain versus Rabbit Brain Thromboplastin Assays Are the Best Tool for a Preliminary Diagnosis of the Arg304Gln Factor VII Defect (FVII Padua)

et al. 2010

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“…These studies once again demonstrate the importance of patients in the understanding of the clotting system. [40][41][42] They also indicate that blood coagulation has become such a vast field of investigation and has become so overspecialized that it is rare that one single author could grasp the connections, among the different phases, or aspects of it. The reviewers usually deal with one subject, namely, vWD, fibrinolysis, FVIII, fibrinogen, and so on, never or seldom tackle general principles and mechanisms involving several coagulation proteins.…”

Section: Discussionmentioning

confidence: 99%

Thrombotic and Hemorrhagic Conditions Due to a Gain of Function of Coagulation Proteins: A Special Type of Clotting Disorders

Girolami

Cosi

Ferrari

et al. 2017

Clin Appl Thromb Hemost

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Coagulation disorders can be classified into 2 types, namely, type I and type II. In the former, there is a concomitant decrease in factor activity and antigen (activity-antigen ratio is 1), whereas in the latter, there is a discrepancy between factor activity which is always low and antigen which is normal or near normal (activity-antigen ratio is <1, eg, 0.5). Recently, several gain-of-function disorders have been described. These are characterized by an increased activity with respect to the antigen level. The condition involves polymorphisms of factor V and factor II, factor IX, von Willebrand disease, thrombomodulin, tissue factor pathway inhibitor, and thrombin activatable fibrinolysis inhibitor. The conditions could be subdivided into prothrombotic and prohemorrhagic. They should also be distinguished as cases of true gain of function (intrinsic increase activity without concomitant increase in protein level) and of "pseudo" gain of function (increase in both activity and protein level). This is a new concept of coagulation defects that has considerably enhanced our knowledge of blood coagulation and that should be familiar to all those interested in the mechanism of blood clotting and its disorders.

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“…It is usually subdivided into type I, in which there is a concomitant and parallel decrease of activity and antigen levels, and type II in which there is a decrease in activity and a normal or near normal antigen. The ratio between type I and type II is 1 to 2 or 1 to 3 [1, 2]. The hereditary transmission is autosomal recessive for both forms of prothrombin deficiency [3].…”

Section: Introductionmentioning

confidence: 99%

“…This is so regardless of the method used, clotting, chromogenic or antigenic. Bleeding is severe and characterized by epistaxis, easy bruising, menometrorrhagias, bleeding after tooth extractions, and hemarthrosis [1]. …”

Section: Introductionmentioning

confidence: 99%

True Congenital Prothrombin Deficiency Due to a ‘New’ Mutation in the Pre-Propeptide (ARG-39 GLN)

Girolami¹,

Santarossa²,

Scarparo³

et al. 2008

Acta Haematol

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Congenital Bleeding Disorders of the Vitamin K‐Dependent Clotting Factors

Cited by 41 publications

References 269 publications

Ox Brain versus Rabbit Brain Thromboplastin Assays Are the Best Tool for a Preliminary Diagnosis of the Arg304Gln Factor VII Defect (FVII Padua)

Ox Brain versus Rabbit Brain Thromboplastin Assays Are the Best Tool for a Preliminary Diagnosis of the Arg304Gln Factor VII Defect (FVII Padua)

Thrombotic and Hemorrhagic Conditions Due to a Gain of Function of Coagulation Proteins: A Special Type of Clotting Disorders

True Congenital Prothrombin Deficiency Due to a ‘New’ Mutation in the Pre-Propeptide (ARG-39 GLN)

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