Factor VII Deficiency (Hypoproconvertinemia)
Description of the disease
Factor VII Deficiency (Hypoproconvertinemia). This disease is an autosomal recessive inherited coagulopathy (blood clotting disorder) characterized by a deficiency in blood clotting factor VII (proconvertin), decreased synthesis of it, or poor-quality synthesis. Heterozygous individuals who inherit this defect may have a mild form of the disease or carry it, while homozygous individuals experience severe symptoms similar to hemophilia A and B.
Liver diseases, treatment with drugs that indirectly disrupt blood clotting such as anticoagulants, nephrotic syndrome, amyloidosis, or the congenital form known as Alexander’s disease (0.1% of cases/100,000 population) can cause acquired factor VII deficiency. This condition accounts for 0.2-1% of congenital coagulopathies.
In Europe, boys and girls experience this disease equally often, with a prevalence rate similar to that of von Willebrand disease.
Symptoms
Symptoms appear early, and the intensity of bleeding depends on the severity of the disease:
a) severe when VII F < 2 %;
b) moderate when VII F < 5%;
c) mild when VII F 5-15%;
d) latent when VII F >15% <30%;
A newborn baby may bleed from the umbilicus, nose, or oral mucosa. Life-threatening bleeding can occur in the brain, as well as from the gastrointestinal and urogenital systems.
Diagnosis
A coagulogram determines prolonged prothrombin time, its index, or decreased SPA. Mixing the patient’s plasma with plasma stored for 24 hours normalizes the prothrombin time. Conducting Russel’s tests and finding positive results indicates a significantly decreased amount of factor VII in the plasma.
Treatment
Treatment includes using fresh frozen plasma, prothrombin complex concentrates, and factor VII concentrates.
Source | Author Doctor Nikas Samuolis, reviewed by Prof. Virginijus Šapoka | Vilnius University | Faculty of Medicine | Head of the Department of Internal Medicine, Family Medicine, and Oncology