1/92. Wilson's disease with concomitant beta thalassaemia and factor v deficiency. A case of late presentation of Wilson's disease in a female with a thalassaemic trait is reported in whom diagnosis of factor v deficiency was made. Despite ignoring the disease for years the patient had compensated cirrhosis. She had a dramatic family history of Wilson's disease affecting at least two brothers and two sisters. Moreover, her haematologic problems were not clinically revealed until diagnosis had been made on the basis of suspicions arising from laboratory results. The therapy of choice for hepatolenticular degeneration was not feasible due to the patient's refusal. zinc salts were, therefore, administered. To our knowledge the association of such rare genetic disorders has not been reported. ( info) |
2/92. 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. ( info) |
3/92. Familial coagulation factor v deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. An index patient with pseudohomozygosity for factor V Leiden was identified. Each of his two children inherited a different paternal factor V allele; a daughter was heterozygous for factor V Leiden, with 100% factor V activity, and a son was heterozygous for factor v deficiency, with 50% factor V activity. Genomic dna was obtained from family members, and the 25 factor V exons and flanking intronic regions were sequenced in the proband and confirmed in the children. Within exon 13 of factor V, a 4 base insertion was found at NT 2856 in the proband and son. but not the daughter. This mutation, here designated factor V Stanford, results in a frameshift with loss of a thrombin activation site (R1545V) and premature termination of translation at amino acid 1560. ( info) |
| factor v deficiency is a rare hereditary disorder. We report a patient with factor v deficiency who presented with menorrhagia and pelvic haematoma. The Haematology Department at the Royal Brisbane Hospital performed the definitive factor assays leading to the diagnosis. The challenges of her management were obtaining adequate supplies of factor V and her socioeconomic circumstances. The main future challenge will be the supervision of her pregnancies. ( info) |
5/92. 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. ( info) |
6/92. Combined factor V and factor vii deficiency due to an independent segregation of the two defects. A patient with combined factor V and factor vii deficiency is described together with a family study. The propositus appeared to be double heterozygous for factor V and factor vii deficiency. Since the patient showed a parallel decrease of activity and antigen, he appeared to be double heterozygous for a true deficiency. The patient had inherited the factor V defect from the mother and the factor VII defect from the father. The parents of the propositus were not consanguineous. Other family members were found to have isolated factor V or factor vii deficiency. This is the third family so far described with this peculiar combined defect but the first to be investigated by clotting and immunologic assays. ( info) |
| The coinheritance of hypoplasminogenemia and heterozygous factor v deficiency in a relative with thrombotic disease and no hemorrhagic tendency is described. The proposita, a 28-year-old woman, suffered from neurologic disturbances due to two ischemic cerebral lesions confirmed by nuclear magnetic resonance scan. She was found to be affected with heterozygous plasminogen deficiency in a coagulation study for inherited thrombophilia. Moreover, she disclosed a prolongation of prothrombin time and activated partial thromboplastin time, which was compatible with heterozygous factor v deficiency. Her father, with a history of deep vein thrombosis, was also affected with plasminogen deficiency, as well as three brothers and one sister who were asymptomatic. The mother of the proposita showed borderline or slightly decreased factor V levels and normal plasminogen levels; she was therefore considered to be heterozygous for factor v deficiency. Heterozygous factor v deficiency was also found in one brother and one sister of the proposita, and they were both asymptomatic. Among the other available family members, one brother and one sister of the proposita, all asymptomatic for either thrombotic or bleeding events, showed a normal clotting and fibrinolytic profile. To our knowledge, this is the first case of combined heterozygous plasminogen and factor v deficiency in the same family. Two of six patients with hypoplasminogenemia showed thrombotic events, and in one of these symptomatic cases the coexistence of factor v deficiency did not prevent the occurrence of thrombosis. As expected, no hemorrhagic tendency was observed in patients with heterozygous factor v deficiency, who may be mildly symptomatic only in 10% of cases. ( info) |
8/92. Postoperative stroke in a child with cerebral palsy heterozygous for factor V Leiden. A 5-year-old with spastic quadraparetic cerebral palsy suffered multiple strokes after extensive orthopedic surgery. Coagulation testing was undertaken to determine whether a familial thrombophilia was present. The patient was found to be heterozygous for factor V Leiden. Factor V Leiden may be a risk factor for central nervous system events in special-needs children, particularly when common medical conditions create additional procoagulant risks. ( info) |
9/92. 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. ( info) |
| We report two patients with severe congenital factor v deficiency, one of whom also had a factor V inhibitor, who required correction of their coagulopathy prior to surgical procedures. They underwent plasma exchange (PE) with fresh frozen plasma or solvent/detergent treated plasma (S/DP), with achievement of factor V levels satisfactory for hemostasis for their procedures. PE makes it possible to raise factor levels quickly and sufficiently without volume overload. In addition, transient reduction of inhibitor titers by PE may improve the level of correction achievable during the perioperative period. The advent of S/DP promises to provide an added increment of safety in patients exposed to significant volumes of plasma during PE. ( info) |