Factor XII deficiency, also known as Hageman factor deficiency, is a rare inherited blood disorder characterized by a deficiency or absence of factor XII, a blood-clotting protein. It is an autosomal recessive condition, meaning that both parents must pass on a defective gene for a child to be affected.
Factor XII plays a crucial role in the initial steps of the coagulation cascade, a series of reactions that stops bleeding by forming blood clots. In individuals with factor XII deficiency, the absence or low levels of this protein can lead to prolonged bleeding or exaggerated bleeding even from minor injuries. However, most affected individuals do not experience abnormal bleeding unless they undergo invasive medical procedures or surgery.
People with severe factor XII deficiency may experience spontaneous bleeding into the muscles or joints, which can cause pain, swelling, and limited movement in the affected area. In some cases, prolonged bleeding after dental extractions or other surgeries may occur. However, the majority of individuals with this condition lead normal lives and do not require treatment.
Factor XII deficiency is diagnosed through specific laboratory tests that measure the levels and activity of factor XII. Genetic testing can also be performed to identify the specific gene mutations responsible for the condition.
Treatment for factor XII deficiency mainly involves managing bleeding episodes with appropriate medical interventions. Replacement therapy with fresh frozen plasma or factor XII concentrate may be needed in instances of significant or prolonged bleeding. However, because this condition is usually asymptomatic, prophylactic treatment is not typically necessary.
Overall, factor XII deficiency is a rare, inherited blood disorder characterized by a deficiency or absence of factor XII, resulting in a tendency towards prolonged or excessive bleeding in affected individuals.
