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Hereditary Plasma Protein Disorders
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
These two disorders40 are extremely rare, with only 60 to 70 cases of congenital Factor VII deficiency having been reported. One in 100,000 has Factor X deficiency. Both are inherited as autosomal recessive traits and both manifest a similar clinical bleeding diathesis. The patients suffer intra-articular bleeding and hemarthroses, but, more commonly, demonstrate only mild mucosal bleeding, manifest by epistaxis, genitourinary and gastrointestinal bleeding. Significant bleeding can occur with surgery or trauma. In several instances, no bleeding manifestations whatsoever have been present. In both congenital Factor VII and congenital Factor X deficiency two variants exist. Some patients with congenital Factor VII deficiency have been reported to have a true deficiency (CRM”), while others have a dysfunctional Factor VII molecule (CRM+). The same situation appears to exist for congenital Factor X deficiency. In both of these disorders the prothrombin time is prolonged. The differential diagnosis is made by the utilization of the Stypven® time (prothrombin time performed with Russell’s viper venom). The Stypven® time will be normal in congenital Factor VII deficiency and will be prolonged in Factor X deficiency. Bleeding in both of these disorders, if it reaches significant or life-threatening proportions, can be controlled with prothrombin complex concentrates.
Case 76
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
Factor VII deficiency is a mild bleeding disorder unless there is complete absence of factor VII protein. In the most severe cases, life-threatening bleeding can be seen from infancy. As levels of above 15 U/dL are generally adequate for normal haemostatic function, milder forms of the disease are often asymptomatic.
Determining the association of thrombophilic gene polymorphisms with recurrent pregnancy loss in Iranian women
Published in Gynecological Endocrinology, 2020
Fatemeh Khorshidi, Sonia Hajizadeh, Hamid Choobineh, Shaban Alizadeh, Mohammad Jafar Sharifi, Zeinab Kavosh, Azadeh Omidkhoda
Increased level of factor XI, as a risk factor for vascular thrombosis, has been confirmed by previous studies. Finally, due to the role of Factor XI in the coagulation cascade, and because so far no studies have been done on abortion-related polymorphisms, we decided to study polymorphism (C > T) FXI (rs4253417) in RPL [9,10]. Factor VII is located in the central position of the coagulation cascade. Most genetic variants are associated with factor VII deficiency and cause bleeding in patients. However, a small number of polymorphisms increase the activity of factor VII and its concentration in the serum and can also increase the risk of thrombotic and subsequently RPL. The 323P0/P10 polymorphism is one of the variants that affect the concentration and activity of Factor VII [11].
Factor VII deficiency – an enigma; clinicohematological profile in 12 cases
Published in Hematology, 2019
Preeti Tripathi, Priyanka Mishra, Ravi Ranjan, Seema Tyagi, Tulika Seth, Renu Saxena
Among the rare bleeding disorders, the prevalence of factor VII deficiency is described as the highest (35–40%) by earlier studies [15]. Our institutional data covering a period of 18 months also confirmed the same findings with 38.5% incidence. Inherited factor VII deficiency is an extremely heterogeneous disorder with regards to the clinical presentation, sites and severity of bleeding. This was evident in our study group where the patient ranged widely in terms of age of presentation (4–68 years) and severity of bleeding symptoms (severe – 3, moderate – 2 and mild – 6). A mild prominence of symptomatic female patients (7 out of 12 patients, 58%) was noted in our study. Similar observations were made by Mariani et al [16]. The author described the increased incidence of female-specific symptoms in their study, e.g. menorrhagia, hemoperitoneum related to ovarian cyst, metrorrhagia and postpartum hemorrhage. The possible explanation for the same may be that hemostasis in the uterus is dependent mainly on the extrinsic pathway due to the abundance of TF natively. Hence, menorrhagia is a common presenting symptom in factor VII-deficient women. Other rare bleeding symptoms described in various studies include CNS bleeds, GI bleeds and thrombosis [16]. The paradoxical association of thrombosis and inherited factor VII deficiency has been studied by Mariani et al. and Marty et al. , the mechanism of which remains unelucidated [7,16]. The possible factors could be co-existing thrombophilic state, therapy with RecVIIa or prothrombin complex concentrates which may adversely increase the levels of other vit K-dependent factors [7]. However, we did not come across any case of thrombosis in this small study group.
A case of heterozygous factor VII deficiency in pregnancy
Published in Journal of Obstetrics and Gynaecology, 2020
Factor VII deficiency is a rare inherited disorder of coagulation. The prevalence of this disorder is estimated at roughly 1:500,000 for homozygotes and 1:350 in heterozygotes (Hunault and Bauer 2000). Homozygotes typically have levels <10 IU dL − 1 while heterozygotes are around 20 – 60 IU dL − 1 (Seligsohn et al. 1970). Generally, bleeding does not become clinically significant unless the Factor VII (FVII) level is <10 IU dL − 1.