Coagulation Disorders (Deficiency in Factor VIII, Factor IX, Factor X, Thrombotic Diathesis)

Coagulation disorders (combined deficiency of coagulation factors)
Hereditary combined coagulation factor deficiency is a congenital blood disorder caused by a variable reduction in the levels of coagulation factors II, VII, IX and X. The values ​​of natural anticoagulants, such as protein C, protein S, and protein Z, may also be decreased. The prevalence is unknown, but it is a relatively common disease. The bleeding symptoms can be mild or severe, begin in the neonatal period in severe cases, and often put the patient’s life at risk. They occur spontaneously or during surgery. Non-hematological symptoms are also often present, such as skeletal and developmental abnormalities (long dotted bones, shortening of the distal phalanges of the fingers, osteoporosis and skin disorders similar to elastic pseudo-xanthoma). Typically this condition is inherited as an autosomal recessive disease. Despite this, indications of disease are often observed even in the parents of a patient, due to the presence of slight abnormalities in coagulation. Genetic counseling should be offered to affected families, although prenatal genetic testing is generally not recommended. The administration of vitamin K during the third trimester of pregnancy can be useful to women at risk. The administration of vitamin K is the therapy of choice in the case of the symptomatic form of the combined deficit. Administration of plasma and prothrombin complex concentrates during surgery or severe bleeding episodes is helpful. An alternative therapeutic option in view of surgery and in the presence of serious bleeding is the combination of recombinant activated FVII (activated eptacog alfa) and vitamin K. The general prognosis is good, especially if the diagnosis is early and with effective therapy.

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