Some individuals may not develop any symptoms (asymptomatic), including individuals with relatively low levels of factor VII. The symptoms and severity of factor VII deficiency are highly variable no consistent correlation between the amount of factor VII in the blood and overall severity is seen. In extremely rare instances, factor VII deficiency can be acquired during life this report deals with the genetic form, which is present at birth (although symptoms may develop later). The disorder has also been known as Alexander’s disease. in 1951 and was referred to as prothrombin conversion accelerator deficiency. Factor VII deficiency is caused by mutations of the F7 gene and is inherited as an autosomal recessive disorder.įactor VII deficiency was first described in the medical literature by Dr. Some individuals may have no symptoms (asymptomatic) others may develop mild, moderate or potentially severe, life-threatening complications as early as in infancy. The severity of factor VII deficiency can vary greatly from one person to another. Individuals with factor VII deficiency can experience prolonged, uncontrolled bleeding episodes. Clotting factors are specialized proteins that are essential for the blood to clot normally.

5 Myths About Orphan Drugs and the Orphan Drug Actįactor VII deficiency is a rare genetic bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII.Information on Clinical Trials and Research Studies.

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