What are the other Names for this Condition? (Also known as/Synonyms)
- F II Deficiency
- Prothrombin Deficiency
What is Factor II Deficiency? (Definition/Background Information)
In normal cases, when an individual bleeds, there are mechanisms in place to stop bleeding. The blood clotting process is summarized below:
- One of the blood cells is platelets. The platelets gather together (aggregate) and get attached to the blood vessels that are bleeding, to form a plug (hemostatic plug)
- Following this, certain proteins present in the liquid portion of the blood (called coagulation factors), assemble on top of the plug and reinforce the plug by a “mesh-like” formation, which then stops the bleeding
- Factor II (F II or prothrombin) is one of the 13 major coagulation factors (numbered from I to XIII). These coagulation factors have to be activated in a complex sequence (coagulation cascade) to form the clot ultimately. A deficiency or non-functioning of any of the clotting factors can cause abnormal bleeding
Factor II (Prothrombin) Deficiency is a very rare bleeding disorder, which is usually inherited from parents or acquired (non-inherited). A congenital deficiency of Factor II or a decreased production in the body of Factor II, due to a variety of reasons, can lead to Factor II Deficiency disorder
- Signs and symptoms of this condition include bleeding at birth from the umbilical cord, excess bleeding after delivery of child, heavy or excess menstrual bleeding, bleeding after a surgery, spontaneous bruising, bleeding in the nose, etc.
- Uncommon sites of bleeding include muscle, brain, joints, abdomen or other sites, and the condition may present with signs and symptoms specific to that site
- The treatment of the condition may include education and awareness. Also, fresh frozen plasma or prothrombin concentrates may be given to control active bleeding. Vitamin K supplement may be helpful in acquired F II Deficiency
- The prognosis of F II Deficiency (both inherited and non-inherited) is generally good with appropriate treatment
Who gets Factor II Deficiency? (Age and Sex Distribution)
- Factor II Deficiency is a very uncommon, inherited or acquired disorder. Only around 100 cases have been reported so far
- It affects both men and women equally
- Individuals of all ethnicities and races may be affected
What are the Risk Factors for Factor II Deficiency? (Predisposing Factors)
The risk factors of Factor II Deficiency include:
- A family history of Factor II Deficiency disorder increases one’s risk for the inherited form of the disorder
- Various clinical situations leading to a deficiency of vitamin K can increase one’s risk for the acquired form of the deficiency disorder
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Factor II Deficiency? (Etiology)
- Normally when there is a bleeding, a series of reactions take place to stop the bleeding. There are certain reactions that along with platelets help in blood to clot. This process is called a coagulation cascade
- When one or more of these factors are found in reduced numbers, or totally absent or non-functional, the clotting process is impeded and bleeding does not stop
- In Factor II (Prothrombin) Deficiency there is little or no clotting Factor II in blood. This condition is usually inherited in an autosomal recessive manner
Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
Non-inherited Factor II Deficiency disorder may be due to:
- Deficiency of vitamin K that could take place due to:
- Prolonged use of antibiotics
- Obstruction of the bile duct
- Poor absorption of vitamin K in the intestines
- In-born deficiency of vitamin K
- Advanced stages of liver diseases
- Use of anticoagulants such as warfarin
What are the Signs and Symptoms of Factor II Deficiency?
The signs and symptoms of Factor II Deficiency can be mild to severe depending on Factor II levels in blood. Individuals, who have more than 50% of F II levels, usually have no abnormal bleeding episodes.
The signs and symptoms may include:
- Umbilical cord bleeding at birth, excess bleeding after delivery of child
- Excess bleeding during menstruation
- Bleeding after a surgical procedure is complete
- Excessive bleeding after an injury or trauma
- Spontaneous bruising
- Epistaxis or nose bleeding
Uncommon sites of bleeding include the muscles, brain, bone joints, abdomen, and other body regions. The signs and symptoms exhibited may be specific to that site.
How is Factor II Deficiency Diagnosed?
The following procedures may be used to diagnose Factor II Deficiency:
- Thorough evaluation of the individual’s medical history and a complete physical examination
- During history taking the physician may want to know the following:
- When the symptoms began and whether they are becoming worse
- List of prescription and over-the-counter medications currently being taken such as warfarin, herbal medications, etc.
- Details of personal and family history of bleeding tendencies, thrombotic tendencies, menstrual history, complications of pregnancies, and surgeries
- Hematologist (expert in dealing with disorders of blood) consultation is often necessary
- Prothrombin time and activated partial thromboplastin time are the initial screening tests that may be done
- Mixing study
- Factor II assay or prothrombin blood test is a test performed to measure the level of activity of Factor II
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Factor II Deficiency?
The complications of Factor II Deficiency could include severe or prolonged bleeding causing life-threatening clinical situations or even death.
How is Factor II Deficiency Treated?
The treatment options of Factor II Deficiency include:
- Individuals with this condition are educated about their illness, about support groups that are available, nearest hemophilia center, and about the signs and symptoms of an evolving bleed. The individuals are advised to:
- Maintain a healthy lifestyle
- Avoid medications that may precipitate a bleed
- Let other treating physicians (healthcare providers) know about their condition
- Active bleeding may be controlled by fresh frozen plasma or prothrombin complex concentrates
- The deficiency of vitamin K can be supplemented by taking it by mouth (orally) or through injections
How can Factor II Deficiency be Prevented?
- Currently, there are no specific methods or guidelines to prevent the inherited form of Factor II Deficiency, since it is a genetic condition
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
The preventative measures of non-inherited forms of Factor II Deficiency may include:
- Supplementing vitamin K deficiency in the body either orally (oral tablets) or through injections
- Avoiding the use of certain medications
- Ensuring proper treatment of liver disease
What is the Prognosis of Factor II Deficiency? (Outcomes/Resolutions)
- The prognosis of Factor II Deficiency (both inherited and non-inherited type) is generally good with appropriate treatment
- The prognosis of non-inherited F II Deficiency may depend on the prognosis of the underlying disorder (such as advanced liver disease)
Additional and Relevant Useful Information for Factor II Deficiency:
- The prothrombin blood test is performed to determine if an individual has deficient or decreased levels of Factor II
The following article link will help you understand prothrombin blood test: