Factor V deficiency, also known as Owren's disease or parahemophilia, is a rare inherited bleeding disorder characterized by a deficiency or dysfunction of factor V, a protein involved in blood clotting.
Factor V plays a crucial role in the coagulation cascade, helping to form a stable blood clot to prevent excessive bleeding. However, individuals with factor V deficiency have reduced levels or impaired function of this protein, leading to a higher risk of bleeding and difficulty in clot formation.
Common symptoms of factor V deficiency include easy bruising, nosebleeds, heavy or prolonged menstrual bleeding, and excessive bleeding after injury or surgery. In severe cases, spontaneous bleeding into joints or muscles can occur.
Factor V deficiency is typically inherited in an autosomal recessive manner, meaning both parents must carry the defective gene for a child to be affected. Diagnosis is made through blood tests that measure factor V activity or antigen levels.
Treatment for factor V deficiency involves managing bleeding episodes with clotting factor replacement therapy or fresh frozen plasma transfusions. In some cases, prophylactic treatment may be necessary to prevent bleeding in high-risk situations.