Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion

Haemophilia ◽  
2017 ◽  
Author(s):  
K. Hutchins ◽  
M. Rajpurkar ◽  
D. W. Stockton ◽  
M. U. Callaghan
Keyword(s):  
Factor Vii ◽  
Factor X ◽  
Factor X Deficiency ◽  
Chromosome 13Q

Regular Prophylactic Treatment with Factor IX P® in a Patient with Severe Factor X Deficiency.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4050-4050
Author(s):  
Andrea Gerhardt ◽  
Fatima Araba ◽  
Rainer B. Zotz ◽  
Rudiger E. Scharf
Keyword(s):  
Joint Pain ◽  
Prophylactic Treatment ◽  
Factor Ix ◽  
Factor Vii ◽  
Coagulation Disorder ◽  
Factor X ◽  
Dental Surgery ◽  
Thrombotic Risk ◽  
Factor X Deficiency ◽  
Patient Reported

Abstract Background: Congenital factor X deficiency, a rare coagulation disorder with variable severity, is an inherited autosomal recessive disorder. The incidence of homozygous factor X deficiency is ~ 1 in 1 million of the general population. The gene encoding for factor X is found adjacent to that encoding for factor VII on chromosome 13q34. Bleeding sites vary according to the severity of the deficiency. Mucocutaneous soft tissue hemorrhages, including menorrhagia in women, are common. Hemarthros, exsanguinating postoperative hemorrhage, pseudotumors, and hemorrhages of the central nervous system have been reported in severely affected patients. Mildly affected patients experience easy bruising and excessive bleeding after trauma or surgery. Treatment options consist of fresh frozen plasma (FFP), prothrombin complex concentrates (PCC) containing factor X or pasteurized Factor IX P® (ZLB Behring). Disadvantage of FFP is the large infusion volume, potential viral transmission, and no standardized factor X content. These aspects, in addition to the thrombotic risk, also need to be addressed for the PCCs. Factor IX P®, which is virus inactivated, contains almost equal amounts of factor IX (1200 IU) and X (800 IU) and suits therefore well for the treatment of factor X deficiency. Case report: We report on our experience of prophylactic treatment with Factor IX P® in a 31-year-old male with severe factor X deficiency (< 1%) associated with a homozygous Cys350Phe mutation in exon 8 on chromosome 13. After birth the patient experienced severe mucosal bleedings and haematomas and later on various joint bleedings with consecutive hemophilic arthropathy. Initially he received FFP on demand and later regular prophylaxis with PCC (containing 600 IU factor X) 2 to 3 times a week (~ 20–25 IU/kg/bw), age at onset of prophylaxis ~ 7 years. The patient is positive for HIV, HCV, and HBV (known since 1984). He is now on regular prophylaxis with Factor IX P® since 7 months. The prophylaxis is given 2 times a week in doses of ~ 20 IU/kg bw. The trough level after 72 hours was 12% using PCC and 20% using Factor IX P®. The patient reported on joint pain when factor X activities were below 20%. The rate of joint pain episodes is lower when using Factor IX P® two times a week as compared to PCC two to three times a week. Orthopedic and dental surgery were performed using Factor IX P® concentrate with excellent hemostatic effect, no thromboembolic complications, and no adverse drug reactions. In conclusion, prophylactic treatment with Factor IX P® in severe factor X deficient patients appears to be an effective and safe therapeutic option.

scholarly journals Factor VII Deficiency in Systemic Primary Amyloidosis: A Rare Case

2018 ◽  
Vol 5 (4) ◽  
pp. 28
Author(s):  
Fadime Ersoy Dursun ◽  
Erdal Akyar ◽  
Gokhan Uygun ◽  
Zafer Baslar ◽  
Bengu Cobanoglu
Keyword(s):  
Prothrombin Time ◽  
Laboratory Tests ◽  
Rare Case ◽  
Common Factor ◽  
Factor Vii ◽  
Primary Amyloidosis ◽  
Factor X ◽  
Factor Vii Deficiency ◽  
Factor X Deficiency ◽  
Factor Deficiency

Introduction: Isolated and combined factor deficiencies are known to occur in systemic primary amyloidosis. The most common factor deficiency known in these cases is isolated factor X deficiency. Other factor deficiencies are relatively less frequent. Isolated factor VII deficiency occurs very rarely in cases of systemic primary amyloidosis.Case report: A 58-year-old male patient previously presenting to another health center with complaints of generalized edema, fatigue, and itching had proteinuria and then he was diagnosed with systemic primary amyloidosis after the renal biopsy for proteinuria etiology. The patient’s laboratory tests showed prolongation of prothrombin time and factor VII deficiency. The patient responded well to the treatment for primary amyloidosis and factor VII deficiency.Discussion: In cases of systemic primary amyloidosis, if the etiology of prolonged prothrombin time involves no liver disease, warfarin use, or malabsorption, physicians should always keep in mind rare factor deficiencies such as factor VII deficiency, along with common factor deficiencies.

Severe Congenital Factor X Deficiency in 5-Month-Old Child

1970 ◽  
Vol 24 (01/02) ◽  
pp. 175-184 ◽  
Author(s):  
A Girolami ◽  
G Molaro ◽  
A Calligaris ◽  
G De Luca
Keyword(s):  
Normal Serum ◽  
Factor Vii ◽  
Brain Hemorrhage ◽  
Factor X ◽  
Clotting Factors ◽  
Normal Limits ◽  
Factor X Deficiency ◽  
Normal Plasma ◽  
Generation Test ◽  
Congenital Factor

SummaryA case of severe congenital factor X deficiency is presented. The patient was a 5 month old child who had several episodes of melena since the first weeks of life. Other bleeding manifestations were subcutaneous hematomas and a massive brain hemorrhage. The prothrombin time was severely prolonged and was corrected by normal serum, aged normal plasma and by the plasma of patients with parahemophilia, congenital hypoprothrombinemia and factor VII deficiency. On the contrary adsorbed normal plasma and Mr. Stuart’s plasma failed to correct the abnormality.The partial thromboplastin time, prothrombin consumption and the thromboplastin generation test were abnormal too. The T.G.T. was corrected by the substitution of the patient’s serum with normal serum. The factor X level was less then 0.1% of normal. All other clotting factors were within normal limits.Both parents of the “propositus” showed slightly decreased levels of factor X in their plasmas and were considered to be heterozygotes for the defect.

Antibody-Induced Acute Factor X Deficiency: Clinical Manifestations and Properties of the Antibody

1994 ◽  
Vol 72 (03) ◽  
pp. 363-371 ◽  
Author(s):  
L Vijaya Mohan Rao ◽  
Ariella Zivelin ◽  
Ignacio Iturbe ◽  
Samuel I Rapaport
Keyword(s):  
Tissue Factor ◽  
Light Chain ◽  
Clinical Manifestations ◽  
Factor Xa ◽  
Factor Vii ◽  
Factor X ◽  
Factor X Deficiency ◽  
Sds Page ◽  
Plasma Factor ◽  
Tissue Factor Pathway

SummaryA patient is described with serious bleeding due to a transient selective deficiency of factor X. Crossed immunoelectrophoresis of patient’s plasma with anti-factor X antibody revealed an abnormal factor X arc suggestive of the presence of plasma factor X/anti-factor X immune complexes. A similar abnormal arc was obtained on adding the patient’s IgG to normal plasma. Immunoblotting of factor X after reduced SDS-PAGE revealed that the patient’s IgG bound to the light chain of intact factor X but not Gla-domainless factor X. The patient’s IgG inhibited activation of factor X by Vila/tissue factor (TF), by IXa/VIIIa/phospholipid complex, and by Russell’s viper venom. The IgG failed to inhibit the proteolytic activity of factor Xa towards a chromogenic substrate. However, under reaction conditions of limited factor Xa availability, the IgG could be shown to impair hemostatic functions of factor Xa that require the participation of its light chain: activation of prothrombin by prothrombinase; activation of factor VII bound to TF; and inhibition of VIIa/TF activity by factor Xa/tissue factor pathway inhibitor complexes. A few earlier patients have been described with transient, selective factor X deficiency and serious bleeding, but in only one was evidence obtained of an antibody against factor X. It will be of interest to learn whether use of the techniques described in this report will permit the identification of immunoglobulin with similar binding and functional properties in future patients with this rare syndrome.

A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

2004 ◽  
Vol 77 (1) ◽  
pp. 90-91 ◽  
Author(s):  
Marzia Menegatti ◽  
Mehran Karimi ◽  
Isabella Garagiola ◽  
PierMannuccio Mannucci ◽  
Flora Peyvandi
Keyword(s):  
Factor Vii ◽  
Coagulation Disorder ◽  
Factor X ◽  
Factor X Deficiency

Very Low Activated Factor VII and Reduced Factor VII Antigen in Familial Abetalipoproteinaemia

1998 ◽  
Vol 80 (08) ◽  
pp. 233-238 ◽  
Author(s):  
K. A. Mitropoulos ◽  
M. N. Nanjee ◽  
D. J. Howarth ◽  
J. C. Martin ◽  
M. P. Esnouf ◽  
...  
Keyword(s):  
Plasma Concentrations ◽  
Positive Association ◽  
Factor Ix ◽  
Factor Vii ◽  
Unesterified Fatty Acid ◽  
Factor Xii ◽  
Factor X ◽  
Factor Xi ◽  
Activated Factor Vii ◽  
Normal Mean

SummaryAbetalipoproteinaemia is a rare disorder of apolipoprotein B metabolism associated with extremely low plasma concentrations of triglyce-ride. To discover whether the general positive association between factor VII and triglyceride levels extends to this condition, 5 patients were compared with 18 controls. All patients had a triglyceride below 100 μmol/l. Plasma unesterified fatty acid concentration was normal. Although factor IX activity was only slightly reduced (mean 88% standard) and factor IX antigen was normal, mean activated factor VII in patients was strikingly reduced to 34% of that in controls, a level similar to that found in haemophilia B. The patients’ mean factor VII activity and factor VII antigen were also significantly reduced to 54% and 63% of those in controls, respectively. Mean factor XI activity and tissue factor pathway inhibitor activity were reduced in patients to 70% and 75% of control values respectively, while factor XII, factor XI antigen, factor X, prothrombin and protein C were normal.

Self-Damping Mechanism in Blood Coagulation

1974 ◽  
Vol 32 (01) ◽  
pp. 057-064 ◽  
Author(s):  
Y Nemerson ◽  
S.A Silverberg ◽  
J Jesty
Keyword(s):  
Tissue Factor ◽  
Blood Coagulation ◽  
Calcium Ions ◽  
Control Mechanism ◽  
Factor Vii ◽  
Damping Factor ◽  
Factor V ◽  
Factor X ◽  
Extrinsic Pathway ◽  
Two Systems

SummaryTwo reactions of the extrinsic pathway of coagulation, the activations of Factor X and prothrombin, have been studied in purified systems and shown to be self-damping. Factor X was activated by the tissue factor - Factor VII complex, and prothrombin by two systems: the coagulant protein of Taipan venom, and the physiological complex of activated Factor X, Factor V, lipid, and calcium ions. In each case the yield of enzyme, activated Factor X or thrombin, is a function of the concentration of activator. These and other observations are considered as a basis for a control mechanism in coagulation.

Factors Affecting the lnteraction of Tissue Factor/Factor Vll with Factor X in a Heterogeneous Tubular Reactor

1991 ◽  
Vol 65 (02) ◽  
pp. 139-143 ◽  
Author(s):  
Cynthia H Gemmell ◽  
Vincet T Turitto ◽  
Yale Nemerson
Keyword(s):  
Steady State ◽  
Tissue Factor ◽  
Factor Viia ◽  
Transmembrane Protein ◽  
Strong Association ◽  
Tubular Reactor ◽  
Factor Xa ◽  
Phospholipid Bilayer ◽  
Factor Vii ◽  
Factor X

SummaryA novel reactor recently described for studying phospholipiddependent blood coagulation reactions under flow conditions similar to those occurring in the vasculature has been further charactenzed. The reactor is a capitlary whose inner wall is coated with a stable phospholipid bilayer (or two bilayers) containing tissue factor, a transmembrane protein that is required for the enzymatic activation of factor X by factor VIIa. Perfusion of the capillary at wall shear rates ranging from 25 s−1 to 1,200 s−1 with purified bovine factors X and VIIa led to steady state factor Xa levels at the outlet. Assay were performed using a chromogenic substrate, SpectrozymeTMFXa, or by using a radiometric technique. In the absence of Ca2+ or factor VIIa there was no product formation. No difference was noted in the levels of factor Xa achieved when non-activated factor VII was perfused. Once steady state was achieved further factor Xa production continued in the absence of factor VIIa implying a very strong association of factor VIIa with the tissue factor in the phospholipid membrane. In agreement with static vesicle-type studies the reactor was sensitive to wall tissue factor concentration, temperature and the presence of phosphatidylserine in the bilayer.

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