1/6. Intracranial haemorrhage due to factor v deficiency.factor v deficiency is a rare coagulation disorder which is inherited autosomal recessively. factor v deficiency should be considered in infants with bleeding disorders and prolonged prothrombin and activated partial thromboplastin times if bleeding continues in spite of vitamin k injection. In this article, the case of an infant with an intracranial haemorrhage due to congenital factor v deficiency is reported.- - - - - - - - - - ranking = 1keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
2/6. Severe factor v deficiency and neonatal intracranial haemorrhage: a case report.We report a case of severe factor V (FV) deficiency (<1%) associated with multiple episodes of intracranial bleeding which presented at birth. The clinical course was further complicated by the development of an inhibitor, episodes of sepsis and cardiac failure. The management using virally inactivated FFP and platelets is discussed.- - - - - - - - - - ranking = 3.5136158250332keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
3/6. A novel two base pair deletion in the factor V gene associated with severe factor v deficiency.We studied a family in which the proband, a 13-year-old boy, had unmeasurable plasma levels of coagulation factor V antigen and activity. Clinical symptoms were severe, with several episodes of haemorrhages in the mucosal tracts (gastrointestinal, nose and urinary) and recurrent haemarthroses that caused permanent arthropathy. sequence analysis of the factor V gene demonstrated the presence of a novel 2 base pair (bp) homozygous deletion in exon 13 at positions 2833-2834. This mutation, present in the heterozygous state in the asymptomatic mother and absent in the healthy brother, introduced a frameshift and a premature stop at codon 900. This would predict the synthesis of a truncated factor V molecule, lacking part of the B domain and the complete light chain. Because of the existence of a surveillance mechanism that selectively recognizes and degrades mRNA molecules carrying premature termination codons, we analysed the relative abundance of mutant vs. wild-type mRNA molecules in the platelets of the heterozygous proband's mother. The mutant mRNA was significantly reduced in amount (mutant/wild-type ratio 0.35). This is the first reported mutation in the factor V gene causing severe factor v deficiency, the effect of which was quantitatively analysed at mRNA level.- - - - - - - - - - ranking = 0.030399010935427keywords = haemorrhage (Clic here for more details about this article) |
4/6. Familial intracranial haemorrhage due to factor v deficiency.Strokes may occur with a large number of genetic disorders. Natowicz and Kelley have reviewed the single gene disorders capable of causing familial haemorrhagic strokes. These may be classified into four groups: a) hereditary disorders affecting clotting factors or platelets; b) hereditary disease producing vascular anomaly; c) hereditary disease causing hypertension and d) miscellaneous group including neurofibromatosis, sickle cell disease and tuberous sclerosis.- - - - - - - - - - ranking = 3.5136158250332keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
5/6. pulmonary embolism in a patient with severe congenital deficiency for factor V during treatment with fresh frozen plasma.thrombosis is a rare complication in patients with congenital clotting factor deficiencies. In most cases, it is related to inherited procoagulant factors, use of central venous catheters or administration of coagulation factor concentrates. There are only a few case reports about thrombotic events during treatment with fresh frozen plasma (FFP). We report the case of a patient with homozygous inherited factor v deficiency, who developed a pulmonary embolism at a time of treatment with methylene blue treated FFP (MBFFP). The patient had only two other factors predisposing to thrombosis and both were acquired: obesity and bed rest. He started anticoagulant treatment with low molecular weight heparin (LMWH) while the deficient factors were replaced with MBFFP. After 8 days of treatment the patient developed a severe respiratory insufficiency. Pulmonary haemorrhage was considered among the differential diagnosis and LMWH was stopped. An inferior vena cava filter was placed without any further thrombotic complications. To our knowledge, there are no reports about patients with clotting factor deficiencies who developed a thrombotic event during treatment with MBFFP.- - - - - - - - - - ranking = 0.030399010935427keywords = haemorrhage (Clic here for more details about this article) |
6/6. factor v deficiency and antenatal intraventricular haemorrhage.Serial obstetric ultrasound showed the development of asymmetrical ventricular dilatation between 28 and 32 weeks' gestation. After delivery at 38 weeks, progressive ventricular dilatation required a ventriculo-atrial shunt. Investigation of postoperative bleeding into the cerebral ventricles consistently showed factor V values of only two per cent.- - - - - - - - - - ranking = 0.12159604374171keywords = haemorrhage (Clic here for more details about this article) |