Factor X Friuli coagulation disorder

1973 ◽  
Vol 27 (3) ◽  
pp. 151-158 ◽  
Author(s):  
Antonio Girolami ◽  
Arnaldo Carli ◽  
Roberto Falomo ◽  
Luigi Marco
Keyword(s):  
Coagulation Disorder ◽  
Factor X

Factor X Friuli Coagulation Disorder

1975 ◽  
Vol 54 (2) ◽  
pp. 120-125 ◽  
Author(s):  
A. Girolami ◽  
G. Molaro ◽  
R. Falomo
Keyword(s):  
Coagulation Disorder ◽  
Factor X

Unusual longevity in a patient with factor X Friuli coagulation disorder

2005 ◽  
Vol 93 (02) ◽  
pp. 385-387 ◽  
Author(s):  
Maria Randi ◽  
Fabiana Tezza ◽  
Gianludovico Molaro ◽  
Bruno Girolami ◽  
Antonio Girolami
Keyword(s):  
Coagulation Disorder ◽  
Factor X

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.

Abnormal Factor X (Factor X Friuli) Coagulation Disorder. The Heterozygote Population

1974 ◽  
Vol 51 (1) ◽  
pp. 40-50 ◽  
Author(s):  
Antonio Girolami ◽  
Adriano Brunetti ◽  
Giovanna Bareggi ◽  
Giuseppe Cella
Keyword(s):  
Coagulation Disorder ◽  
Factor X

Factor X Survival and Therapeutic Factor X Levels in the Abnormal Factor X (Factor X Friuli) Coagulation Disorder

1974 ◽  
Vol 52 (4) ◽  
pp. 223-231 ◽  
Author(s):  
A. Girolami ◽  
G. Molaro ◽  
L. De Marco
Keyword(s):  
Coagulation Disorder ◽  
Factor X

Factor X Vorarlberg, A New Variant of Hereditary Factor X Deficiency

1979 ◽  
Author(s):  
K Lechner ◽  
G Mähr ◽  
P Margariteller ◽  
E Deutsch
Keyword(s):  
Sodium Citrate ◽  
Autosomal Recessive Inheritance ◽  
Disc Electrophoresis ◽  
Coagulation Disorder ◽  
Bleeding Tendency ◽  
Factor X ◽  
Activity Factor ◽  
New Variant ◽  
Tissue Thromboplastin ◽  
Heterologous Antibody

The proposita, a 56 years old woman, has a mild bleeding tendency. Prothrombin time was 112 sec (control 17.0 sec), stypven time 13.7 sec (control 11.5 sec) and APTT 54 sec (control 40 sec). Factor I, II (funct.and imm.), V, VII, VIII, IX, XI, XII, AT III were normal. - Factor X activity was < 1% by extrinsic system assay (tissue thromboplastin), 12% by RVV assay and 32% by intrinsic system (APTT) assay. Similar results were obtained when factor X activity was determined using the synthetic substrate S 2222. Immunoassay (antibody neutralisation, heterologous antibody to factor X) demonstrated a decreased level (20%) of immunoreactive factor X. The patient plasma had no inhibitory activity. Factor X activity could be completely absorbed on barium sulfate and eluted with 5% sodium citrate. It was eluted at the same position from a Sephadex G-200 column as normal factor X, but had a slower electrophoretic mobility when subjected to disc electrophoresis. Family studies (22 members studied) suggest an autosomal recessive inheritance. A second unrelated family with the same defect was subsequently detected in the same valley of Vorarlberg (Austria). - It is concluded that this hereditary coagulation disorder is due to a grossly abnormal factor X-molecule.Supported by Ö.F.F.W.F. (grant No. M2-2090)

Abnormal Factor X (Factor X Friuli) Coagulation Disorder

1973 ◽  
Vol 49 (2) ◽  
pp. 114-122 ◽  
Author(s):  
A. Girolami ◽  
R. Nicolini ◽  
E. Furlani ◽  
G. Bareggi
Keyword(s):  
Coagulation Disorder ◽  
Factor X

scholarly journals Lack of PIVKA Effect in the Abnormal Factor X (Factor X Friuli) Coagulation Disorder

1972 ◽  
Vol 1 (1) ◽  
pp. 23-30
Author(s):  
A. Girolami ◽  
A.D. Muller ◽  
H.C. Hemker
Keyword(s):  
Coagulation Disorder ◽  
Factor X

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.

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