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

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.

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

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.

scholarly journals Puerarin Attenuates Ovalbumin-Induced Lung Inflammation and Hemostatic Unbalance in Rat Asthma Model

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Feng Dong ◽  
Chengbin Wang ◽  
Jinyan Duan ◽  
Weiyi Zhang ◽  
Daijun Xiang ◽  
...  
Keyword(s):  
Lung Tissue ◽  
Factor Ix ◽  
Allergic Airway Disease ◽  
Factor Vii ◽  
Tissue Homogenate ◽  
Coagulation Disorder ◽  
Factor Xii ◽  
Thrombin Time ◽  
Factor X ◽  
Cell Counts

Aim.We aimed to investigate and evaluate the preventive activity of puerarin on the ovalbumin-induced asthma rat model.Materials and Methods.Male Wistar rats were sensitized intraperitoneally on days 0, 7, and 14 and challenged to ovalbumin intratracheally on day 21. Groups of sensitized rats were treated randomly either with placebo, puerarin, dexamethasone, or puerarin combined with dexamethasone, from days 15 to 20. Inflammatory markers, including cell counts in bronchoalveolar lavage fluid (BALF), inflammatory cytokines, histopathology, and coagulation parameters, such as coagulation tests and the activity of coagulation factors, were analyzed.Results.Puerarin significantly inhibited the recruitment of inflammatory cells in BALF and lung tissue. At the same time, the release of IL-4, IL-10, and IFN-γin serum and the expression of mRNAs in lung tissue homogenate were changed by puerarin. Administration of puerarin also effectively rectified the coagulation disorder in asthmatic rats, such as prothrombin time (PT) (P<0.01), thrombin time (TT) (P<0.05), fibrinogen (FIB) (P<0.01),the activity of factor II (FII) (P<0.01), the activity of factor V (FV) (P<0.05), the activity of factor VII (FVII) (P<0.05), the activity of factor X (FX) (P<0.05), the activity of factor VIII (FVIII) (P<0.01), the activity of factor IX (FIX) (P<0.05), and the activity of factor XII (FXII) (P<0.05).Conclusions.Our results provide a clue that puerarin was useful for the preventive of allergic airway disease in rodents.

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.

scholarly journals Further Studies on the Abnormal Factor X (Factor X Friuli) Coagulation Disorder: A Report of Another Family

Blood ◽  
1971 ◽  
Vol 37 (5) ◽  
pp. 534-541 ◽  
Author(s):  
A. GIROLAMI ◽  
M. LAZZARIN ◽  
R. SCARPA ◽  
A. BRUNETTI
Keyword(s):  
Normal Serum ◽  
Factor Vii ◽  
White Female ◽  
Coagulation Disorder ◽  
Recessive Trait ◽  
Bleeding Tendency ◽  
Factor X ◽  
Clotting Time ◽  
Serum Factors ◽  
Normal Limits

Abstract Another patient with a congenital coagulation disorder due to the presence of an abnormal factor X (factor X Friuli) is presented. The proposita was a 43-yr-old white female who had a bleeding tendency from early childhood (epistaxes, monorrhagias, bleeding after tooth extractions and other surgical procedures, posttraumatic hemarthroses, bleeding from the gums and postpartum hemorrhages). The coagulation work-up demonstrated a prolonged prothrombin time, prolonged partial thromboplastin time, abnormal prothrombin consumption, and abnormal thromboplastin generation corrected by normal serum. Factors II, V, VII, IX, and XII were within normal limits. Platelets, vascular tests and fibrinolysis were normal. Mr. Stuart’s plasma failed to correct the defect of the proposita’s plasma, but a known factor VII deficient plasma was able to correct the abnormality. The factor X assay was low (6-9%) only when tissue thromboplastin, whole or partial, was used. When Factor X was assayed with a Stypven-cephalin mixture, normal or near normal values were observed. Likewise, the Stypven-cephalin clotting time, the Stypven clotting time and the factor II + factor X level using a Stypven-cephalin mixture were normal. The presence of the abnormal factor X was demonstrated immunologically. The defect, like classical factor X deficiency, is transmitted as an autosomal incompletely recessive trait. The mother and the two children of our proposita had factor X levels varying from 38 to 56% of normal and were considered to be heterozygotes.

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.

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