Factor VII deficiency appears to be the common type of the inherited bleeding disorders. Factor VII is a protein that is essential for the blood clotting process. This condition occurs when the body either produces an insufficient amount of the clotting factor VII or it does not function effectively. As the result, individuals affected with this deficiency can experience uncontrolled bleeding episodes. The severity of this condition can differ in cases with some presenting no symptoms to others developing potentially life-threatening complications. It is estimated that the factor VII deficiency affects 1 in 300,000 to 1 in 500,000 individuals.
Causes
The inherited form of this condition occurs as the result of a mutation in the gene F7 which is essential for producing a protein known as the coagulation factor VII. This protein is required for the coagulation process that occurs following an injury. The mutation in the gene decreases the quantity of coagulation factor VII in the blood and as the result, it prevents the blood clotting effectively thus resulting in the excessive bleeding. This condition is inherited in an autosomal recessive pattern where both the copies of the mutation are present in each cell. The parents of the affected individuals each carry the mutated gene but do not necessarily exhibit any symptoms associated with this condition.
Symptoms
The symptoms vary among the affected individuals with some presenting no symptoms to others developing serious bleeding complications. Those individuals with very low quantity of factor VII in their body tend to have more serious symptoms. Some of the common symptoms of this condition include easy bruising, nosebleeds, heavy or prolonged menstruation in women, bleeding in the head among the newborns and bleeding after dental surgery. Additional symptoms can include gastrointestinal bleeding, abnormal bleeding after childbirth or surgery, muscle bleeds, bleeding in the central nervous system and bleeding into the joints.
Diagnosis
The diagnosis is based on the individual’s history and a thorough evaluation with various specialized screening coagulation tests. This includes two tests known as the activated partial thromboplastin time (aPTT) and prothrombin time (PT). In addition, an assay test identifies the activities of various materials in the blood which can indicate reduced activity of factor VII.
Treatment
The treatment focuses on increasing the factor VII level in the bloodstream to stop the bleeding that is administered intravenously. This process is known as the factor replacement therapy. The two types of treatment are known as recombinant activated factor VII and plasma-derived factor VII. Oral medications are also available that are used for mucosal bleeding from the uterus, vagina, nose and the mouth. Women experiencing heavy menstrual bleeding are given hormonal treatment like the contraceptive pills.
References
https://rarediseases.org/rare-diseases/factor-vii-deficiency/
https://www.wfh.org/en/page.aspx?pid=665
http://www.hemophilia.ca/en/bleeding-disorders/other-factor-deficiencies/factor-vii-deficiency/