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Results for “Factor V Deficiency”

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At least 19 recordsLinked to original sources

PubMed1978

Patients with congenital factor V deficiency have decreased factor Xa binding sites on their platelets.

Human platelets have binding sites for plasma coagulation Factor X(a) that are available only after the platelet release reaction. Platelets from 15 normal donors bound 216+/-52 (SD) molecules of Factor X(a) per platelet. The association of Factor X(a) with its platelet surface receptor results in a 300,000-fold increase in the catalytic activity of Factor X(a) in forming thrombin from prothrombin. The turnover number for platelet-bound Factor X(a) was 1,850+/-460 mol thrombin/ml per min per mol Factor X(a) in experiments with platelets from 15 normal donors. Platelets from five patients with varying degrees of Factor V deficiency were investigated to determine whether or not coagulation Factor V participates in either aspect of the Factor X(a)-platelet interaction. The binding of Factor X(a) to platelets and the accompanying increase in rate of thrombin formation were either reduced in parallel or absent in each case with values ranging from 0 to 45% of control values. The apparent affinity of Factor X(a) from Factor V-deficient patients was normal when platelet binding was detected. The supernate from thrombin-treated control platelets, which contains Factor V activity, corrected the Factor X(a) binding deficiency of the platelets from three patients tested. Immunoreactive Factor V determined with an homologous antibody corresponded to the functional Factor V activity of platelets from one patient with Factor V deficiency, suggesting that the patient's platelets have a decreased amount of normal Factor V. The ability of platelets from the patients to bind Factor X(a) and increase the rate of thrombin formation correlated with the severity of each patient's bleeding disorder better than the plasma level of Factor V. The results indicate that Factor V is required for the Factor X(a)-platelet interaction and that thrombin formation at the platelet surface is important in normal hemostasis.

Adult↗

PubMed1987

A case of congenital factor V deficiency.

A case of Factor V deficiency, the first case in Korea, is reported in a 9-year-old boy whose plasma concentration of Factor V was 6%. He complained of easy bruisability, prolonged bleeding from the mouth after minor trauma and hemarthrosis and flexion contracture of the right knee. His parents are heterozygous (maternal Factor V concentration 52%, paternal 40%).

Child↗

PubMed1983

Factor V deficiency and its reversal with gluten restriction. In a patient with celiac disease.

Hemorrhagic manifestations in patients with celiac disease are uncommon and, when present, are usually due to a deficiency of the vitamin K-dependent clotting factors. A patient with celiac disease was seen with a severe bleeding diathesis associated with deficiencies of factor V. The deficiencies of vitamin K-dependent clotting factors were rapidly reversed with parenteral administration of phytonadione. Factor V levels returned to normal levels only after gluten restriction.

Adult↗

PubMedDate not supplied

Factor V deficiency in a patient with rheumatoid arthritis.

Factor V deficiency associated with rheumatoid arthritis was found in a 54-year-old woman. Hereditary factor V deficiency is very rare; only about 150 cases have been reported since its discovery in 1943. This appears to be the first case report of factor V deficiency associated with rheumatoid arthritis in the literature.

Arthritis, Rheumatoid↗

PubMed1989

Thromboembolic manifestations and congenital factor V deficiency: a family study.

A case of congenital factor V deficiency is reported. Despite this defect in blood coagulation, the patient had experienced recurrent thrombophlebitis and was referred to us because of deep venous thrombosis of the lower limbs associated with pulmonary embolism. Both functional and immunological assays documented a deficiency of factor V (12 and less than 10%, respectively). The available family members were investigated and the same defect was found in 2 brothers of the propositus, who also suffered from thrombotic diseases (recurrent thrombophlebitis and myocardial infarction). The propositus has been treated with long-term oral anticoagulant therapy, no hemorrhagic complications or thrombotic recurrences being recorded in 2 years' time.

Blood Coagulation Factors↗

PubMed1984

Inherited factor V deficiency. Study of a Brazilian family.

Isolated Factor V deficiency is a very rare inherited coagulopathy. A genealogy of Brazilian Caucasians, where this disorder occurs, is reported. In this family, which was located because 2 affected individuals having the same surname were found by chance, the genealogical and laboratory data suggest an autosomal recessive pattern of inheritance. Nevertheless, the existence of deceased individuals who were reported as symptomatic seems to imply that some heterozygotes may present occasional bleeding episodes.

Adolescent↗

PubMed1976

Combined congenital deficiency of factor V and factor VIII. Report of a further case with some considerations on the hetereditary transmission of this disorder.

A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were mild. The main laboratory feature was a prolonged partial thromboplastin time which was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum, hemophilia A plasma or plasma of another patient with combined factor V and factor VIII deficiency. TGT was also clearly abnormal and was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum. Prothrombin consumption was mildly defective. The prothrombin time was slightly prolonged. Facotr VIII was 12% and factor V 55% of normal. Factor-VIII-associated antigen was normal. The father and a sister of the propositus revealed mild factor V deficiency but normal factor VIII activity and antigen. The parents were not consanguineous. A tentative classification of combined deficiency of factors V and VIII in two groups is proposed. The hereditary transmission of the two types of deficiencies is discussed.

Adult↗

PubMed1978

Congenital factor V deficiency. A family study.

A 14-month-old girl suffering from a heavy bleeding tendency, caused by a severe isolated congenital factor V deficiency is described. In this study 56 family members were examined. 10 of them had a factor V level ranging 26-60% of the normal--these were classified as heterozygotes. The case histories of the heterozygotes did not reveal a bleeding tendency. The inheritance of this factor V deficiency is autosomal recessive, with varying expressivity in the heterozygotes.

Factor V Deficiency↗

PubMed1983

Heterogeneity of human factor V deficiency. Evidence for the existence of antigen-positive variants.

Functional human Factor V has been purified using a rapid immunoaffinity method. Following barium citrate adsorption of plasma, Factor V was precipitated with polyethylene glycol at a concentration between 5 and 14%. The resulting preparation was applied to a column containing an immobilized immunoadsorbent consisting of an IgG fraction containing a naturally occurring human monoclonal (IgG(4)lambda) antibody with inhibitory activity against human Factor V. The solid phase immunoglobulin quantitatively bound Factor V from human plasma. The bound Factor V was effectively eluted with a Tris buffer pH 7.2 containing 1.2 M NaCl and 1 M alpha-methyl-D-mannoside. The isolated native Factor V with high specific activity (92 U/mg) showed a single band (M(r), 350,000) on both reduced and nonreduced sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Factor V was purified 5,100-fold over plasma with an overall yield of 77%. The purified Factor V when subjected to thrombin activation exhibited an 18-fold increase in coagulant activity. The isolated Factor V neutralized the inhibitory activities of the monoclonal antibody that was used to purify it, as well as the rabbit antibodies produced by immunizing the animals with the purified Factor V. Immunoelectrophoresis of purified Factor V against the polyclonal rabbit antiserum resulted in a single precipitin arc of identical mobility to the Factor V in normal human plasma. Analysis by double immunodiffusion showed a line of identity between plasma and purified Factor V and crossed immunoelectrophoresis showed a single species in normal plasma.A competitive enzyme-linked immunosorbent assay using the rabbit antibody against Factor V was applied to quantify Factor V antigen level in human plasma. Reconstitution of congenitally deficient or immunodepleted plasma with normal plasma or purified Factor V gave parallel dose-response curves. In 14 normal plasma the coagulant activity was 0.98+/-0.02 U/ml (mean+/-SEM) and antigen concentration was 11.1+/-0.4 mug/ml. A pool of 14 patients with congenital Factor V deficiency were studied. 10 patients had Factor V antigen ranging from 1.0 to 2.4 mug/ml with corresponding coagulant activities (0-0.17 U/ml) indicating a low concentration of normal Factor V, presumably due to decreased synthesis or increased degradation. When these patient plasmas and the normal plasmas were analyzed together an excellent correlation (r = 0.97, P < 0.01) was obtained. However, four patients with coagulant activity (0-0.08 U/ml) had Factor V antigen concentrations ranging from 4.4 to 6.1 mug/ml, indicating the presence of a reduced concentration of abnormal Factor V protein. The presence of patients with antigen similar in concentration to coagulant activity and antigen in excess of Factor V activity indicates the heterogeneity of congenital Factor V deficiency.

Animals↗

PubMed1990

A case of congenital factor V deficiency combined with multiple congenital anomalies: successful management of palatoplasty.

A patient with congenital factor V deficiency combined with mental retardation and several congenital anomalies including cleft palate, dwarfism, microcephaly and right hydrocele testis is described. The levels of factor V activity and factor V antigen of plasma were significantly decreased. The platelet lysate obtained from him also showed a significantly low level of factor V activity. Palatoplasty and tooth extraction were successfully performed under transfusion therapy with fresh-frozen plasma.

Abnormalities, Multiple↗

PubMed1975

The localization of factor V within normal human platelets and the demonstration of a platelet-factor V antigen in congenital factor V deficiency.

Separation of human platelets from plasma by a modified gel-filtration technique reveals very low levels of factor-V activity of the platelet suspension. Repeated freezing and thawing increases the factor-V activity in various factor-V assays. This activity neutralized the inactivating effect of a rabbit-antihuman factor V antibody to plasma factor V, while intact platelets had almost no such capacity. Washed and normal platelets and gel filtered platelets showed marked positive fluorescence after treatment with antifactor V serum and FITC labelled sheep antirabbit immunoglobulin. Fluorescence was inhibited by previous incubation of the antifactor V serum and platelet lysates. Platelets of a factor V deficient patient showed the same fluorescence pattern as normal platelets indicating that they contained a factor V antigen. These platelets showed after lysis no effect in various factor V assays. From these studies it is concluded that the localization of factor V is within the platelets.

Antigens↗

PubMed1990

Acquired factor V deficiency in a patient with pulmonary tuberculosis.

A 29 yr old man with pulmonary tuberculosis and concomitant acquired plasma coagulation factor V deficiency is reported. The case is discussed together with three previously described cases. The bleeding tendency in a patient with pulmonary tuberculosis may be caused by a coagulation factor antibody and may be corrected by chemotherapy, as in the case described. Special therapeutic approaches are required in some cases.

Adult↗

PubMed1987

Abnormal formation of the prothrombinase complex: factor V deficiency and related disorders.

A membrane-bound, Ca2-dependent complex of the cofactor factor Va and the enzyme factor Xa comprises the prothrombinase coagulation complex, which catalyzes the proteolytic conversion of prothrombin to thrombin. In normal hemostasis, the platelet is presumed to supply the surface membrane and thus constitutes the site at which an enzymatically functional complex assembles and thrombin generation occurs. Factor Va, the two subunit protein produced by thrombin activation of factor V, is an essential, nonenzymatic cofactor of the prothrombinase complex. Factor Va performs its cofactor role in part by binding to the platelet membrane and functioning as the membrane receptor for factor Xa in a 1:1 stoichiometric complex of high affinity (Kd = 10(-10) M). Factor Va also appears to participate in the binding of prothrombin to the enzymatic complex. Because deletion of factor Va from the prothrombinase complex decreases the rate of thrombin generation by four orders of magnitude, the essential role it plays is easily understood. Therefore, in the evaluation of factor Va function in the prothrombinase complex, the ability of factor Va to support various binding interactions with the platelet, factor Xa, and prothrombin must be considered. Factor Va can be made available from two potential blood compartments: the plasma and platelets. Approximately 80 per cent of the total blood factor V circulates in plasma whereas the remaining 20 per cent is contained within platelet granules. The relative contribution of plasma versus platelet factor V to factor Va binding interactions in the prothrombinase complex are not clearly defined. However, data from our laboratory and several others suggest that factor V stored and released from platelets is of utmost importance in maintaining normal hemostasis. A discussion of these data relative to congenital and acquired deficiencies of both plasma and platelet factor V is the subject of this report.

Blood Platelets↗

PubMed1986