Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study

Protein-C inhibitor (PCI) is a newly described plasma inhibitor directed against a vitamin-K-dependent serine protease, activated protein-C, which is involved in the inactivation of factor V and factor VIII. Marlar and Griffin have reported that PCI activity is absent in the plasma of patients with congenital combined factor V/VIII deficiency. We have measured the levels of PCI in the plasma of seven unrelated patients with this disorder using both functional and immunologic methods. The rate at which the amidolytic activity of activated protein-C was neutralized in the patients' plasma was essentially identical to that observed in normal plasma. The titer of PCI antigen, as measured by an electroimmunoassay using a monospecific anti-PCI serum, was 5.3 +/- 1.6 micrograms/ml in the patients' plasma and was not significantly different from that of normal plasma (5.3 +/- 2.7 micrograms/ml, n = 30). The levels of factor-V-related antigen, factor V coagulant antigen, and factor VIII coagulant antigen were low in all patient plasma and were in good agreement with their respective coagulant activity. Our results do not appear to support the hypothesis that combined factor V/VIII defect is due to a lack of PCI.

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Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII

Blood ◽

10.1182/blood.v62.6.1266.1266 ◽

1983 ◽

Vol 62 (6) ◽

pp. 1266-1270 ◽

Cited By ~ 20

Author(s):

K Suzuki ◽

J Nishioka ◽

S Hashimoto ◽

T Kamiya ◽

H Saito

Keyword(s):

Factor Viii ◽

Protein C ◽

Activated Protein C ◽

Factor V ◽

Amidolytic Activity ◽

Normal Plasma ◽

Coagulant Activity ◽

Protein C Inhibitor ◽

Combined Deficiency ◽

Good Agreement

Abstract Protein-C inhibitor (PCI) is a newly described plasma inhibitor directed against a vitamin-K-dependent serine protease, activated protein-C, which is involved in the inactivation of factor V and factor VIII. Marlar and Griffin have reported that PCI activity is absent in the plasma of patients with congenital combined factor V/VIII deficiency. We have measured the levels of PCI in the plasma of seven unrelated patients with this disorder using both functional and immunologic methods. The rate at which the amidolytic activity of activated protein-C was neutralized in the patients' plasma was essentially identical to that observed in normal plasma. The titer of PCI antigen, as measured by an electroimmunoassay using a monospecific anti-PCI serum, was 5.3 +/- 1.6 micrograms/ml in the patients' plasma and was not significantly different from that of normal plasma (5.3 +/- 2.7 micrograms/ml, n = 30). The levels of factor-V-related antigen, factor V coagulant antigen, and factor VIII coagulant antigen were low in all patient plasma and were in good agreement with their respective coagulant activity. Our results do not appear to support the hypothesis that combined factor V/VIII defect is due to a lack of PCI.

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Combined factor V and factor VIII deficiency: A rare case report and literature review

International Journal of Case Reports ◽

10.28933/ijcr-2020-02-1512 ◽

2020 ◽

pp. 118

Author(s):

◽

Keyword(s):

Case Report ◽

Literature Review ◽

Factor Viii ◽

Rare Case ◽

Factor V ◽

Factor Viii Deficiency ◽

Rare Case Report

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Case Report on Management of Combined Factor V and factor VIII Deficiency during Pregnancy

Global Journal of Medical Research ◽

10.34257/gjmrevol21is1pg1 ◽

2021 ◽

pp. 1-2

Author(s):

Dr. Kirti Solanki ◽

Dr. Swati Kochar ◽

Dr. Shweta Choudhary ◽

Dr. Priyanka Gaur ◽

Dr. Krishna Krishna

Keyword(s):

Factor Viii ◽

Post Partum ◽

Autosomal Recessive Disorder ◽

Fresh Frozen Plasma ◽

Factor V ◽

Bleeding Tendency ◽

Factor Viii Deficiency ◽

Risk Of Bleeding ◽

Increased Risk ◽

Fresh Frozen

Combined factor V and factor VIII deficiency (CF5F8D) is a rare autosomal recessive disorder associated with mild to moderate risk of bleeding tendency. These patients have an increased risk of bleeding after surgical procedures. Pregnant women are at increased risk of having a miscarriage, placental abruption, or post partum hemorrhage. Management of these patients requires the replacement of deficient factors. We are reporting a case of management of a 31-year old second gravida female with combined factor V and factor VIII deficiency, who was transfused with fresh frozen plasma before and during labor to prevent bleeding episodes.

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Frequency of combined factor V and factor VIII deficiency in southern Iran

Blood Coagulation & Fibrinolysis ◽

10.1097/mbc.0b013e3283655a9b ◽

2014 ◽

Vol 25 (1) ◽

pp. 92-93

Author(s):

Hassan Mansouritorghabeh

Keyword(s):

Factor Viii ◽

Factor V ◽

Factor Viii Deficiency ◽

Southern Iran

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Proteolytic inactivation of human factor VIII procoagulant protein by activated human protein C and its analogy with factor V

Blood ◽

10.1182/blood.v63.2.486.486 ◽

1984 ◽

Vol 63 (2) ◽

pp. 486-489 ◽

Cited By ~ 202

Author(s):

CA Fulcher ◽

JE Gardiner ◽

JH Griffin ◽

TS Zimmerman

Keyword(s):

Factor Viii ◽

Protein C ◽

Human Factor ◽

Activated Protein C ◽

Light Chains ◽

Factor V ◽

Human Factor Viii ◽

Thrombin Activation ◽

A Site ◽

Polypeptide Chains

Abstract Purified human factor VIII procoagulant protein (VIII:C) was treated with purified human activated protein C (APC) and the loss of VIII:C activity correlated with proteolysis of the VIII:C polypeptides. APC proteolyzed all VIII:C polypeptides with mol wt = 92,000 or greater, but not the doublet at mol wt = 79–80,000. These results and our previous thrombin activation studies of purified VIII:C, are analogous with similar studies of factor V and form the basis for the following hypothesis: activated VIII:C consists of heavy and light chain polypeptides [mol wt = 92,000 and mol wt = 79–80,000 (or 71–72,000), respectively] which are similar in Mr to the heavy and light chains of activated factor V. Thrombin activates VIII:C and V by generating these polypeptide chains from larger precursors and APC inactivates both molecules by cleavage at a site located in the heavy chain region of activated VIII:C and V.

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