Factor II deficiency

Factor II Deficiency: Description, Causes and Risk Factors:Factor II deficiency is a blood clotting (coagulation) problem that occurs when there is a lack of a substance (prothrombin) that is needed for blood to clot.Factor II DeficiencyWhen you bleed, the body launches a series of reactions that help the blood clot. This is called the coagulation cascade. The process involves special proteins called coagulation or clotting factors. When one or more of these clotting factors are missing, there is usually a higher chance of bleeding.This disorder occurs when the body does not have enough factor II, an important blood clotting protein. Factor II deficiency that runs in families (inherited) is very rare. Both parents must be carriers to pass it to their children. A family history of a bleeding disorder is a potential risk factor.Most commonly, factor II deficiency is caused by:Lack of vitamin K due to long-term use of antibiotics, bile duct obstruction, or poor absorption of vitamin K from the intestines. Some babies are born with vitamin K deficiency.
  • Severe liver disease
  • Use of drugs that prevent clotting (anticoagulants such as warfarin or Coumadin).
The gene encoding prothrombin is primarily expressed in the liver and is located on chromosome 11 in the region of the centromere. It is composed of 14 exons and contains 24 kilobases of DNA. The gene encodes a signal region, a propeptide region, a glutamic acid domain, 2 kringle regions, and a catalytic domain. The enzyme gamma-glutamyl carboxylase, in the presence of vitamin K, converts the N-terminal glutamic acid residues to gamma-carboxyglutamic acid residues. These gamma-carboxyglutamic acid residues are necessary for the binding of prothrombin to phospholipids on platelet membranes.Factor II deficiency is an inherited bleeding disorder that is caused by a problem with factor II. Because the body produces less prothrombin than it should, or because the prothrombin is not working properly, the clotting reaction is blocked prematurely and the blood clot does not form.Factor II deficiency is an autosomal recessive disorder, which means that both parents must carry the defective gene in order to pass it on to their child. It also means that the disorder affects both males and females. Factor II deficiency is very rare, but like all autosomal recessive disorders, it is found more frequently in areas of the world where marriage between close relatives is common.Factor II deficiency may be inherited with other factor deficiencies. It can also be acquired later in life as a result of liver disease, vitamin K deficiency, or certain medications such as the blood-thinning drug. Acquired factor II deficiency is more common than the inherited form.Both congenital and acquired factor II deficiencies are rare. Only approximately 30 cases of congenital factor II deficiency have been documented worldwide.Symptoms:Symptoms may include:Abnormal menstrual bleeding. Diagnosis:Factor II deficiency results in a longer prothrombin time (INR). If the physician notes a long prothrombin time, he or she will order tests for levels of factor II, V, VII and X proteins. The physician will make a diagnosis based on a low Factor II activity.Treatment:You can control blood loss by getting infusions of fresh or frozen plasma or concentrates of clotting factors into the blood. If a lack of vitamin K is causing the disorder, you can take vitamin K by mouth, through injections under the skin, or through a vein (intravenously).Diagnosing a bleeding disorder is important so that the doctor can take extra care if you need surgery, and can test or warn other family members who might be affected.Excessive menstrual bleeding in women with factor II deficiency may be controlled with hormonal contraceptives (birth control pills), intra-uterine drugs (IUDs), or antifibrinolytic drugs.The recommendations for healthy living are the same as for anyone without a factor II deficiency.Follow a regular program of physical activity suited to lifestyle and capability. Maintaining adequate muscle mass can reduce the risk of bleeds.
  • Use high quality sports equipment appropriate for any sport (helmet, elbow pads, kneepads, proper shoes, etc.). The most often recommended sports are swimming and cycling.
  • Eat a well-balanced diet; maintain normal weight.
  • Get enough sleep.
  • Drink alcohol in moderation only.
  • Don't smoke.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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