1/47. Transmission of factor vii deficiency through liver transplantation.The liver is the primary site of synthesis for the majority of coagulation factors. There are published accounts of liver donor-to-recipient transmission of protein c deficiency with dysfibrinogenemia and factor xi deficiency. In this article, we report what we believe to be the first observation, of transmission of factor vii deficiency, a rare, autosomal recessive coagulation disorder, from an affected liver donor to a naive liver recipient. At 300 days after transplantation, the recipient remains with an isolated prolongation of the prothrombin time and a below-normal level of factor VII, and has had no bleeding complications.- - - - - - - - - - ranking = 1keywords = coagulation disorder, coagulation (Clic here for more details about this article) |
2/47. factor vii deficiency detected in pregnancy: a case report.factor vii deficiency is a rare hereditary coagulation disorder with an incidence estimated at 1 in 500,000 individuals. In this report, we describe the 13th case in pregnancy. The diagnosis of severe factor vii deficiency (factor VII level <5%) was established at 10 weeks' gestation after initial laboratory testing showed a markedly prolonged prothrombin time and a normal activated partial thromboplastin time. There was a history of two preterm deliveries, but there was no evidence of previous bleeding manifestations. Antenatal progress of the index pregnancy was unremarkable. Prophylactic treatment with fresh frozen plasma was started at the onset of labor and the patient had a vaginal delivery of a live girl at 36 weeks' gestation. There was no postpartum hemorrhage and mother and newborn were discharged in good condition. The patient's postpartum level of factor VII remained undetectable. Two aspects are outlined: the absence of any significant increase in factor VII clotting activity during this pregnancy and the need to give replacement therapy at labor in patients with severe factor VII deficiency to decrease the risk of postpartum hemorrhage.- - - - - - - - - - ranking = 0.93524002801108keywords = coagulation disorder, coagulation (Clic here for more details about this article) |
3/47. Clinical efficacy and recovery levels of recombinant FVIIa (NovoSeven) in the treatment of intracranial haemorrhage in severe neonatal FVII deficiency.The use of replacement FVII is critical to the successful treatment of life-threatening bleeds in newborns and infants with severe FVII deficiency (<1%). However, the clinical efficacy, optimum dosage and pharmacologic recovery of rFVIIa in such children has not been studied systematically. This report is a case of an infant with severe FVII deficiency (FVII:C at 0%) and massive intracranial haemorrhage in which successful use of rFVIIa (NovoSeven) was carefully monitored. The drug was administered by intravenous bolus through a central line every 4 h at each of three dose levels: 15 microg kg-1, 22 microg kg-1 and 30 microg kg-1. FVII:C was >100% between 30 and 180 min after each infusion with mean trough levels above 25% for all three dose levels. There was no evidence of hyper-coagulation as indicated by measurements of the platelet count, D-dimer, plasma protamine paracoagulant and fibrinogen levels in spite of high FVII:C concentration. In this infant, rFVIIa was well-tolerated, maintained effective haemostasis with good clinical outcome, and produced consistent therapeutic mean trough levels above 25% FVII:C even at 15 microg kg-1 every 4 h.- - - - - - - - - - ranking = 0.064759971988915keywords = coagulation (Clic here for more details about this article) |
4/47. factor vii deficiency in a patient with retinal arteriolar tortuosity syndrome.PURPOSE: To report a pedigree with hereditary retinal arteriolar tortuosity with macular haemorrhage and abnormality of the coagulation system. methods: Case report and literature review. RESULTS: A 49-year-old woman was referred due to macular haemorrhage in both eyes. Her 16-year-old son had recurrent retinal haemorrhages which presented at age 16 years and had mild retinal arteriolar tortuosity. Coagulation studies in the son revealed normal activated partial thromboplastin time (APTT), prolonged prothrombin time (PT) and 30% activity of factor VII. CONCLUSIONS: factor vii deficiency may aggravate the haemorrhages in retinal arteriolar tortuosity syndrome. We therefore suggest conducting routine coagulation studies (PT, APTT) in all patients with retinal arteriolar tortuosity syndrome. Determination of factor VII activity is warranted only in patients with normal APTT and prolonged PT.- - - - - - - - - - ranking = 0.12951994397783keywords = coagulation (Clic here for more details about this article) |
5/47. Isolated factor vii deficiency diagnosed after a life-threatening brain haemorrhage.A 65-year-old man was admitted to another hospital with a life-threatening brain haemorrhage, and laboratory examinations on admission revealed prolonged prothrombin time with normal activated partial thromboplastin time. To establish the cause of his abnormal coagulation, he was referred to our clinic. Neither the patient nor his family had any previous history of bleeding symptoms. His liver function was within normal limits but coagulation tests showed increased plasma activities of factors II, VIII, IX, X, with reduced activities of factors V and VII. The activity of factor VII was less than 2% but no inhibitor of factor VII was detected in the plasma. We concluded that the patient had a rare congenital isolated factor vii deficiency although he had not shown earlier bleeding problems, presumably because of compensation for the factor vii deficiency by enhanced activities of components of the extrinsic coagulation pathway, factors II, VIII, IX and X.- - - - - - - - - - ranking = 0.19427991596675keywords = coagulation (Clic here for more details about this article) |
6/47. Apparently dominant transmission of a recessive disease: deficiency of factor VII in Iranian jews.In inherited disorders transmitted as autosomal recessive traits the children of affected individuals are usually asymptomatic and phenotypically normal because they are heterozygous for the defect. In an Iranian Jewish family with moderately severe deficiency of coagulation factor VII (an autosomal recessive bleeding disorder) the son of an affected woman was also affected. dna analysis of the factor VII gene showed that this unusual situation was due to the fact that he inherited an abnormal allele with the Ala244Val missense mutation from both the homozygous mother and the heterozygous father. The parents, although not overtly consanguineous, belong to the same ethnic group of Iranian jews, among whom this factor VII gene mutation reaches high frequencies (between 2 and 3%) in the heterozygous state.- - - - - - - - - - ranking = 0.064759971988915keywords = coagulation (Clic here for more details about this article) |
7/47. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy.BACKGROUND: Combined deficiency of vitamin k-dependent coagulation factors (II, VII, IX, X) is an uncommon challenge for the expectant gravida. CASE: A 34-year-old primigravida had congenital combined deficiency of factors II, VII, IX, and X that were incompletely sensitive to vitamin k. She had an altered form of vitamin k-dependent factors that retained immunologic activity but lacked coagulant activity and the normal complement of gamma-carboxyglutamic acid residues. She required vitamin k supplementation throughout her life. After an uneventful pregnancy she had postpartum hemorrhage resulting from an episiotomy. Fresh frozen plasma was administered to achieve hemostasis. The remainder of her postpartum course was normal. CONCLUSION: Combined congenital deficiency of factors II, VII, IX, and X can be managed in pregnancy with the use of vitamin k and fresh frozen plasma.- - - - - - - - - - ranking = 0.064759971988915keywords = coagulation (Clic here for more details about this article) |
8/47. liver transplantation for factor vii deficiency.factor vii deficiency is a serious, potentially lethal disorder of blood coagulation caused by a defect in hepatic factor VII synthesis. We report two children, sisters, both with severe, recurrent hemorrhagic complications from factor vii deficiency, successfully treated with orthotopic liver transplantation. Postoperatively, they remain symptom free with normal coagulation profiles.- - - - - - - - - - ranking = 0.12951994397783keywords = coagulation (Clic here for more details about this article) |
9/47. Genotypic heterogeneity may explain phenotypic variations in inherited factor vii deficiency.Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenotype relationships are difficult to clarify. The analysis of three FVII-deficient patients enabled us to offer some explanations.- - - - - - - - - - ranking = 0.064759971988915keywords = coagulation (Clic here for more details about this article) |
10/47. Molecular characterization of four novel mutations causing factor vii deficiency.INTRODUCTION: Hereditary deficiency of factor VII (FVII) is a rare coagulation defect. We previously studied the molecular basis of the FVII deficiency in Israeli patients and found that the majority of them bore the Ala244Val mutation. In the present study we further analysed FVII deficient patients. patients AND methods: Three patients with severe FVII deficiency (FVII activity < or =1%) and one with partial deficiency (25%) were studied. In all four patients, the FVII gene was amplified and sequenced. RESULTS: Four novel mutations have been identified: IVS 2 1G-->C Phe 24 deletion, Leu300Pro and Arg277His. Homozygosity for the IVS2 1G-->C mutation was lethal, whereas homozygosity for the Phe 24 deletion was accompanied by a severe bleeding tendency. FVII modeling showed that Phe 24 is located in the Gla domain. Both Arg 277 and Leu 300 are within the catalytic domain, although Arg 277 is also involved in tissue factor binding. CONCLUSION: We have analysed four mutations, two of which (IVS2 1G-->C, Phe 24 deletion) were associated with severe bleeding tendency in the homozygous state, facilitating prenatal diagnosis. Hypothetically, using FVII modeling, Arg 277 replacement by histidine may weaken the tissue factor, while deletion of Phe 24 and Leu300Pro mutation might be associated with abnormal folding of the Gla and catalytic domains, respectively.- - - - - - - - - - ranking = 0.064759971988915keywords = coagulation (Clic here for more details about this article) |
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