Factor II Deficiency - Causes, Symptoms, Diagnosis, and Treatment

What Are Clotting Factors?

Hemostasis refers to forming clots in the walls of injured blood arteries to limit blood loss while keeping blood fluid inside the vascular system. Coagulation, also known as clotting, is the process through which blood loses its mobility and coagulates. It occurs shortly after blood is shed. Blood coagulation happens due to a sequence of events caused by activating a set of chemicals. A clot is a web of thin fibrils that entangles blood cells. These fibrils are made of fibrin. Fibrin is made from fibrinogen. To reduce blood loss, the body initiates a mechanism after an injury to the blood vessels. First, platelets combine to produce a temporary plug. Fibrin holds this plug together to create a clot. The external bleeding stops when platelets block.

Following that, clotting factors compel strands of blood-borne components known as fibrin to bind together and seal the wound's interior. A few days later, the blood clot dissolves after the severed blood artery has healed. Clotting factors are the chemicals required for clotting, and the coagulation factors included are as follows.

• Factor 1 (Fibrinogen).

• Factor 2 (Prothrombin).

• Factor 3 (Thromboplastin).

• Factor 4 (Calcium).

• Factor 5 (Proaccelerin or labile factor).

• Factor 6 (Stable factor).

• Factor 8 (Antihemophilic factor).

• Factor 9 (Christmas factor).

• Factor 10 (Stuart-Prower factor).

• Factor 11 (Plasma thrombin antecedent).

• Factor 12 (Hageman factor).

• Factor 13 (Fibrin stabilizing factor).

What Is Factor II?

Prothrombin is the main protein involved in hemostasis and has procoagulant properties. It is a plasma protein generated in the liver in the presence of vitamin K and transformed into thrombin during blood clotting. It is one of several components in the blood that aid in proper clotting. Prothrombin (also known as coagulation factor II) is a crucial protein in the blood coagulation system. Prothrombin is transformed to the active form thrombin (factor IIa) after enzymatic cleavage, stimulating the conversion of fibrinogen to fibrin and assuring clot formation.

What Is Factor II Deficiency?

Factor II deficiency, often known as prothrombin deficit, is an uncommon condition characterized by prothrombin's inadequate blood clotting activity. It is hereditary and autosomal recessive, meaning both parents must carry the gene for their offspring to inherit. Therefore, it has an equal impact on males and women. Some symptoms are severe, while others are minor, indicating blood clotting is slower than usual. Muscles, joints, and the brain are the most commonly affected areas. However, these are less prevalent.

What Are the Causes of Factor II Deficiency?

Factor II deficiency can be passed down via families. It can also be contracted due to sickness, treatment, or an autoimmune reaction. Factor II deficiency is relatively uncommon. It is caused by a recessive gene, meaning both parents must have the gene for the condition to be passed along. When bleeding, the body goes through a sequence of processes that aid in forming blood clots. This is known as the coagulation cascade. Coagulation, or clotting, factors are particular proteins involved. Excessive bleeding may occur if one or more of these components are missing or not functioning properly.

One such coagulation factor is prothrombin, often known as factor II. Prothrombin deficiency is hereditary and extremely rare. However, both parents must have the gene to transmit the condition to their offspring. Therefore, a bleeding disorder in the family might be a risk factor.

Another medical condition or certain medications can also cause prothrombin deficiency. This is referred to as acquired prothrombin deficiency. The most common cause of acquired factor II insufficiency is an underlying disease such as:

• A lack of vitamin K.

• Anticoagulants, for example, are drugs used to treat liver disease (for example- Warfarin or Coumadin).

• The generation of autoimmune inhibitors prevents good clotting factors from working with Vitamin K insufficiency (some babies are born with vitamin K deficiency).

• Serious liver disease.

• Use of anti-clotting medications (anticoagulants such as Warfarin).

What Are the Signs and Symptoms of Factor II Deficiency?

Prothrombin's weak blood clotting ability characterizes factor II deficiency. Some symptoms are severe, while others are minor, indicating blood clotting is slower than usual. In addition, blood clotting may be slower than usual in extremely mild instances. Symptoms of severe factor II deficiency may include

• Birth bleeding from the umbilical cord.

• Unidentified bruising.

• Irregular bleeding following childbirth, surgery, or injury.

• Nosebleeds that persist.

• Bleeding gums.

• Menstrual cycles that are heavy or lengthy.

• Internal organ, muscle, skull, or brain hemorrhage (relatively rare).

• Bleeding following surgery.

• Easily bruised.

How to Diagnose Factor II Deficiency?

A medical history, any family history of bleeding difficulties, and laboratory testing are mainly used to diagnose factor II deficiency. Among the laboratory tests for bleeding disorders are:

• Factor Assays - These tests evaluate the performance of specific factors to discover factors that are absent or malfunctioning.

• Factor II Assays - These tests determine the amount of factor II in the blood.

• Prothrombin Time (PT) - It measures the amounts of factors I, II, V, VII, and X in the blood, depending on how rapidly it clots.

• Partial Prothrombin Time (PTT) - Like PT, this examines the amounts of factors VIII, IX, XI, XII, and von Willebrand factors in the blood depending on how rapidly the blood clots.

• Other Tests- These may be performed to rule out any underlying disorders causing the bleeding issues.

How to Treat Factor II Deficiency?

• The treatment of factor II deficiency focuses on preventing bleeding, addressing underlying problems, and implementing preventive measures before surgery or invasive dental treatments. Managing bleeding can be by infusions of prothrombin complex, a combination of factor II (prothrombin), and other clotting factors, which may be used to treat bleeding episodes.

• In the past, fresh frozen plasma (FFP) infusions were used. However, they are becoming less prevalent as safer alternatives become available.

• In other cases, with the treatment of underlying disease since the bleeding has stopped, patients can address any underlying disorders impairing blood platelet function.

• If the patient's underlying problem cannot be treated, then the therapy will shift to addressing the symptoms and consequences of the clotting issue.

Conclusion

Prothrombin deficiency is characterized by a lack of prothrombin, a protein in the blood. It causes issues with blood clotting (coagulation). Factor II clotting factor is another name for prothrombin. Prothrombin deficiency is a chronic disorder that is inherited. Patients with mild to severe factor II deficiency can live a normal and healthy life with adequate management. If the deficit is severe, individuals must work closely with a hematologist (a blood condition specialist) for the rest of their lives to decrease bleeding risks and control bleeding episodes. There is no cure for hereditary prothrombin deficiency. When a shortage of vitamin K is the root problem, supplementing with vitamin K can assist.