Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions

We report a new variant of the von Willebrand’disease combined with a deficiency of Factor V. A 35 yr. old woman presented a history of severe hemorrhagic diathesis with prolonged epistaxis, gum bleeding and menometrorrhagias, one of which caused hysterectomy. PT 24"/15", aPTT 70"/33", F.V 8%; Template Ivy Bleeding Time (BT) 15'-10'; VIIIC 7%, VIIIRAG 76%, VIIIWF 48%; Platelet Retention (PR) 95%; Ristocetin-Induced Platelet Aggregation (RIPA) > 2.0 mg/ml; Electrophoretic mobility was normal. Other plasmatio and platelet assays were normal. The propositus has two female children. One presented: BT 5'30" - 6'30"; F.V 137%; VIIIC 54%, VIIIRAG 66%, VIIIWF 56%. The other. BT 5'-8"; F.V 107%; VIIIC 29%, VIIIRAG 30%, VIIIWF 37%. One of her two sisters has F.V 53%. The other was normal. One of her two brothers has VIIIC 84%, VIIIRAG 65%, VIIIWF 52%. The other was normal. As her father died of a severe hemorrhagic episode, we studied her three aunts. One has VIIIC 44%. Another has BT 7'30" and F.V “borderline. The third has F.V “borderline. In all the subjects presented PR was normal, while in all but two RIPA was reduced. This new variant may represent a genetical link between the von Willebrand’disease and a combined deficiency of F.VIII and F.V.

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Major Surgery in a Subject with Factor V Deficiency

Thrombosis and Haemostasis ◽

10.1055/s-0038-1654318 ◽

1971 ◽

Vol 25 (03) ◽

pp. 438-446 ◽

Cited By ~ 10

Author(s):

E. J Melliger ◽

F Duckert

Keyword(s):

Intercellular Space ◽

Correct Diagnosis ◽

Postoperative Bleeding ◽

Major Surgery ◽

Factor V ◽

Factor V Deficiency ◽

Disappearance Time ◽

Fresh Plasma ◽

One Year

SummaryA further case of parahaemophilia is reported. One year after the correct diagnosis had been made the patient had to undergo cholecystectomy which was performed under prophylactic substitutive treatment with fresh plasma at a factor V level of 31 %. A minimal factor V level of 11 to 12% was maintained throughout the first week after operation. There was no abnormal postoperative bleeding. The half disappearance time of factor V was found to be about 12 h. Infusion of equivalent amounts of fresh plasma supplied a higher yield of factor V in the patient’s plasma before operation than postoperatively what may be explained by an increased diffusion of factor V into the intercellular space resulting from a postoperatively increased capillar permeability. The results are compared with those of other authors.

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Factor V Leiden Is Associated with Repeated and Recurrent Unexplained Fetal Losses

Thrombosis and Haemostasis ◽

10.1055/s-0038-1656060 ◽

1997 ◽

Vol 77 (05) ◽

pp. 0822-0824 ◽

Cited By ~ 145

Author(s):

Elvira Grandone ◽

Maurizio Margaglione ◽

Donatella Colaizzo ◽

Marina d'Addedda ◽

Giuseppe Cappucci ◽

...

Keyword(s):

Protein C ◽

Strong Association ◽

Activated Protein C ◽

Fetal Loss ◽

Factor V Leiden ◽

Factor V ◽

Significant Difference ◽

History Of ◽

Fv Leiden ◽

Caucasian Women

SummaryActivated protein C resistance (APCR) is responsible for most cases of familial thrombosis. The factor V missense mutation Arg506>Gln (FV Leiden) has been recognized as the commonest cause of this condition. Recently, it has been suggested that APCR is associated with second trimester fetal loss. We investigated the distribution of FV Leiden in a sample (n = 43) of Caucasian women with a history of two or more unexplained fetal losses. A group (n = 118) of parous women with uneventful pregnancies from the same ethnical background served as control. We found the mutation in 7 cases (16.28%) and 5 controls (4.24%; p = 0.011). A statistically significant difference between women with only early fetal loss vs those with late events (p = 0.04) was observed. Our data demonstrate a strong association between FV Leiden and fetal loss. Furthermore, they indicate that late events are more common in these patients.

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Molecular Characterization of a Type I Quantitative Factor V Deficiency in a Thrombosis Patient that Is “Pseudo Homozygous” for Activated Protein C Resistance

Thrombosis and Haemostasis ◽

10.1055/s-0038-1655948 ◽

1997 ◽

Vol 77 (02) ◽

pp. 252-257 ◽

Cited By ~ 32

Author(s):

Joan F Guasch ◽

Ruud P M Lensen ◽

Rogier M Bertina

Keyword(s):

Protein C ◽

Dna Analysis ◽

Activated Protein C ◽

Type I ◽

Factor V ◽

Sequencing Analysis ◽

Apc Resistance ◽

Quantitative Factor ◽

Factor V Deficiency ◽

Fv Leiden

SummaryResistance to activated protein C (APC), which is associated with the FV Leiden mutation in the large majority of the cases, is the most common genetic risk factor for thrombosis. Several laboratory tests have been developed to detect the APC-resistance phenotype. The result of the APC-resistance test (APC-sensitivity ratio, APC-SR) usually correlates well with the FV Leiden genotype, but recently some discrepancies have been reported. Some thrombosis patients that are heterozygous for FV Leiden show an APC-SR usually found only in homozygotes for the defect. Some of those patients proved to be compound heterozygotes for the FV Leiden mutation and for a type I quantitative factor V deficiency. We have investigated a thrombosis patient characterized by an APC-SR that would predict homozygosity for FV Leiden. DNA analysis showed that he was heterozygous for the mutation. Sequencing analysis of genomic DNA revealed that the patient also is heterozygous for a G5509→A substitution in exon 16 of the factor V gene. This mutation interferes with the correct splicing of intron 16 and leads to the presence of a null allele, which corresponds to the “non-FV Leiden” allele. The conjunction of these two defects in the patient apparently leads to the same phenotype as observed in homozygotes for the FV Leiden mutation.

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Suppressive Effect of Dextran on Platelet Adhesiveness

Thrombosis and Haemostasis ◽

10.1055/s-0038-1655597 ◽

1966 ◽

Vol 16 (03/04) ◽

pp. 384-394 ◽

Cited By ~ 32

Author(s):

S Cronberg ◽

B Robertson ◽

Inga Marie Nilsson ◽

J.-E Niléhn

Keyword(s):

Molecular Weight ◽

Bleeding Time ◽

Slight Modification ◽

Molecular Size ◽

Suppressive Effect ◽

Factor Ix ◽

Factor V ◽

Platelet Adhesiveness ◽

History Of ◽

Mean Molecular Weight

Summary43 normal volunteers, 3 patients with thrombophlebitis, and 1 patient with a high platelet adhesiveness and a history of thrombophlebitis have received dextran and its action on the mechanism of haemostasis has been studied. Platelet adhesiveness has been investigated by a slight modification of Hellem’s methods for whole blood and plasma. Dextran with a mean molecular weight of 70,000 produced a markedly lowered platelet adhesiveness together with a moderate prolongation of the Ivy bleeding time. Factor VIII was decreased by about 50% and factor V, factor IX and fibrinogen were decreased slightly more than could be expected from haemodilution alone. No fibrinolysis occurred. Dextran of lower molecular size was less potent. The possible use of dextrans as a thrombosis prophylactic agent is discussed.

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New proposal for the treatment of asymptomatic patients with acquired factor V deficiency

10.26226/morressier.58f5b033d462b80296c9dd18 ◽

2017 ◽

Author(s):

Simon Mikulandra

Keyword(s):

Factor V ◽

Asymptomatic Patients ◽

Factor V Deficiency

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A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia

Case Reports in Hematology ◽

10.1155/2018/9098604 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4

Author(s):

Andrew Chu ◽

Thu Thu Aung ◽

Minni Shreya Arumugam ◽

Mauricio Danckers ◽

Mohi Mitiek ◽

...

Keyword(s):

Oral Anticoagulants ◽

Single Point ◽

Factor V Leiden ◽

Single Point Mutation ◽

Homozygous Mutation ◽

Factor V ◽

Right Heart ◽

Blood Clots ◽

History Of ◽

In Transit

Factor V Leiden (FVL) is an autosomal dominant condition resulting in thrombophilia. Factor V normally acts as a cofactor for prothrombinase, helping cleave prothrombin to thrombin. A single point mutation in it disrupts factor V, making it unreceptive to protein C and increasing the risk of thrombosis. FVL mutation associated with right heart thrombus is a rare entity. Right heart thrombus or right heart thrombus-in-transit is associated with high mortality. We present a 51-year-old male with a past medical history of FVL homozygous mutation and recurrent blood clots, who has failed multiple different oral anticoagulants. He presented to the hospital with symptoms of shortness of breath and subsequently found to have a giant right heart thrombus. He was treated with surgical embolectomy. This case underscores the challenges faced by patients with FVL and recurrent blood clots.

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The influence of thrombophilia on the long-term survival of patients with a history of venous thromboembolism

Thrombosis and Haemostasis ◽

10.1160/th12-05-0361 ◽

2013 ◽

Vol 109 (01) ◽

pp. 79-84 ◽

Cited By ~ 12

Author(s):

Sylvia Reitter-Pfoertner ◽

Thomas Waldhoer ◽

Michaela Mayerhofer ◽

Ernst Eigenbauer ◽

Cihan Ay ◽

...

Keyword(s):

Risk Factors ◽

Venous Thromboembolism ◽

Multivariable Analysis ◽

Factor V Leiden ◽

Arterial Disease ◽

Factor V ◽

Term Survival ◽

Long Term Survival ◽

History Of

SummaryData on the long-term survival following venous thromboembolism (VTE) are rare,and the influence of thrombophilia has not been evaluated thus far. Our aim was to assess thrombophilia-parameters as predictors for long-term survival of patients with VTE. Overall, 1,905 outpatients (99 with antithrombin-, protein C or protein S deficiency, 517 with factor V Leiden, 381 with elevated factor VIII and 160 with elevated homocysteine levels, of these 202 had a combination and 961 had none of these risk factors) were included in the study between September 1, 1994 and December 31, 2007. Retrospective survival analysis showed that a total of 78 patients (4.1%) had died during the analysis period, among those four of definite or possible pulmonary embolism and four of bleeding. In multivariable analysis including age and sex an association with increased mortality was found for hyperhomocysteinemia (hazard ratio 2.0 [1.1.-3.5]) whereas this was not the case for all other investigated parameters. We conclude that the classical hereditary thrombophilia risk factors did not have an impact on the long-term survival of patients with a history of VTE. Thus our study supports the current concept that thrombophilia should not be a determinant for decision on long term anticoagulation. However, hyperhomocysteinaemia, known as a risk factor for recurrent VTE and arterial disease, might impact survival.

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