Factor V deficiency
Factor V deficiency is a rare inherited bleeding disorder that prevents blood from clotting normally, leading to prolonged or excessive bleeding.
Overview
Factor V deficiency is a rare condition where the blood does not clot properly. While symptoms can appear at any age, the most severe cases are typically identified in childhood. The condition is also known as parahemophilia or Owren disease.
Symptoms
Common signs of Factor V deficiency include:
- Frequent nosebleeds
- Easy bruising and bleeding under the skin
- Bleeding of the gums
- Prolonged or excessive bleeding following surgery, trauma, or childbirth
- Heavy or prolonged menstrual bleeding (menorrhagia)
- Rarely, bleeding into joint spaces (hemarthrosis)
Severely affected individuals are at risk for life-threatening internal bleeding, such as intracranial or pulmonary hemorrhage.
Causes
The condition is usually caused by mutations in the F5 gene, which provides instructions for making the coagulation factor V protein. These mutations prevent the production of functional protein or significantly reduce its levels in the bloodstream. Individuals with this condition typically have less than 10 percent of normal factor V levels; those with less than 1 percent are considered most severely affected.
In very rare cases, acquired factor V deficiency can occur when the body produces antibodies that attack and inactivate normal factor V protein. This is not a genetic condition and is often associated with exposure to substances like bovine thrombin during surgery.
Inheritance
Congenital Factor V deficiency is inherited in an autosomal recessive pattern, meaning both copies of the F5 gene in each cell must have mutations. Individuals with a mutation in only one copy of the gene may have reduced levels of the protein but typically experience only mild or no health effects.
