Another Family with the Factor VII Padua Clotting Defect

Girolami, Antonio; Patrassi, G; Cappellato, G; Casonato, Allesandra

doi:10.1159/000207528

Cited by 21 publications

(28 citation statements)

References 9 publications

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“…The entity of bleeding seems to mainly correlate with the level of the factor involved, since, for example, patients with FVII Padua who show FVII activity around 9% of normal presented only mild or no bleeding [17, 18, 21]. …”

Section: Discussionmentioning

confidence: 99%

“…The rare bleeding coagulation disorders of the prothrombin complex in a total of 27 patients included: prothrombin deficiency (2 cases), FVII deficiency or abnormalities (6 cases), FIX deficiency (hemophilia B carriers, 16 cases) and FX defect (3 cases). Some of these patients have been reported in the past [14,15,16,17,18,19,20,21], some are unreported. For some of the reported patients, information about pregnancies and/or OCT were gathered both at diagnosis and during the follow-up after the original study.…”

Section: Methodsmentioning

confidence: 99%

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Pregnancy and Oral Contraceptives in Congenital Bleeding Disorders of the Vitamin K- Dependent Coagulation Factors

Girolami

Randi²,

Ruzzon³

et al. 2006

Acta Haematol

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Pregnancies and deliveries represent important hemostatic challenges for congenital coagulation disorders. The same is true for the assumption of oral contraceptives. Available information mainly deals with von Willebrand’s disease, factor XI (FXI) deficiency and carriers of hemophilia A. Data concerning patients with congenital prothrombin complex factor deficiencies are very scanty. In the present study, data of a total of 27 women are presented, 11 patients with homozygous or double heterozygous deficiencies of FII, FVII and FX, together with 16 cases of hemophilia B carriers. The patients with FII, FVII or FX defects had a total of 14 pregnancies and often needed transfusion therapy. Proper management resulted in a decrease in postpartum bleeding and satisfactory fetal outcome. Elective cesarean delivery seems indicated only in recent years. Carriers of hemophilia B had a total of 19 pregnancies but showed no bleeding and needed no substitutive therapy. Searching the literature, we discovered only 9 additional patients with prothrombin deficiency or FX deficiency, having a total of 16 pregnancies. On the contrary, there were at least 17 additional patients with FVII deficiency, with a total of 21 pregnancies. The management of the diseases has been variable, but in substantial agreement with the personal observations. Oral contraceptive therapy was administered in some of our patients and in a few additional cases described in the literature. Medication was always well tolerated and patients who took it for a long period of time showed a decrease in menometrorrhagia and an improvement in hematocrit levels. This led to a decrease in transfusional needs and to improved general conditions.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Pregnancy and Oral Contraceptives in Congenital Bleeding Disorders of the Vitamin K- Dependent Coagulation Factors

Girolami

Randi²,

Ruzzon³

et al. 2006

Acta Haematol

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“…Five of these were published in the past [5,6,7,16]. The 6th case was discovered later and has not yet been published.…”

Section: Methodsmentioning

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%

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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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Further studies on factor VII padua defect: the report of the fourth homozygous patient from the same valley

Girolami

Gaio

Doglioni

et al. 1982

Blut

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A new patient with factor VII Padua abnormality is presented. The proposita is an 11-year-old girl who showed a mild bleeding tendency and a laboratory pattern characterized by a prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time and normal Thrombotest. Factor VII assay was 10% using rabbit brain thromboplastin and 100% of normal using ox brain thromboplastin. Factor VII cross-reaction material was normal. The parents were not consanguineous but both came from the same area and were found to be heterozygous for the abnormality. The discovery of the present patient, the fourth in three years, indicates that the defect might be more frequent than originally thought.

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Another Family with the Factor VII Padua Clotting Defect

Cited by 21 publications

References 9 publications

Pregnancy and Oral Contraceptives in Congenital Bleeding Disorders of the Vitamin K- Dependent Coagulation Factors

Pregnancy and Oral Contraceptives in Congenital Bleeding Disorders of the Vitamin K- Dependent Coagulation Factors

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

Further studies on factor VII padua defect: the report of the fourth homozygous patient from the same valley

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