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

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A rare hereditary condition causes a deficiency of factor VII, a protein that plays a crucial role in blood clotting. Read this article to learn more about this condition.

Medically reviewed by

Dr. Pandian. P

Published At October 5, 2022
Reviewed AtOctober 5, 2022

What Is Factor VII?

A blood clotting disorder causes the blood to clot excessively easily. This is also known as hypercoagulability or thrombophilia. When a person is injured, their body attempts to stop the bleeding by forming a blood clot. Clotting factors (proteins) produced by the liver bind to platelets in the blood to form a blood clot (coagulate). Normal coagulation is critical for stopping bleeding and starting the healing process after a cut.

Factor VII, also known as proconvertin, is one of these clotting factors produced by the liver. It requires vitamin K to be produced. The most sensitive of the vitamin K-dependent clotting factors is factor VII. Factor VII has the shortest half-life of any clotting factor, with an estimated half-life of six hours. The factor VII gene is found on chromosome 13. Factor VII's primary function is to initiate the coagulation process in collaboration with tissue factors. The tissue factor is found on the outside of blood vessels and is not normally found in the bloodstream. The tissue factor is exposed to the blood and circulating factor VII when a vessel is injured.

What Is Factor VII Deficiency?

The genetic disorder factor VII deficiency is characterized by a deficiency of factor VII in the blood. It occurs when the body is unable to produce enough clotting factor VII, which aids in wound healing. It can be hereditary or the result of a medical condition. Excessive bleeding caused by a wound or surgery can be caused by factor VII deficiency. In this case, it, along with other clotting factors and blood cells, does not promote blood clotting at the site of an injury. Factor VII forms normal blood clots and closes wounds to prevent blood loss, which does not occur here.

What Are the Types of Factor VII Deficiency?

Factor VII deficiency can be hereditary or acquired. The inherited form is extremely rare. Depending on the cause, there are two types of this condition:

  • Inherited Factor VII Deficiency - Factor VII deficiency is inherited. The FVII gene in the body is responsible for the production of factor VII. If both of the parents have an FVII gene mutation, then the child may inherit two copies of the faulty gene. This is referred to as autosomal recessive inheritance, and it can lead to congenital or inherited factor VII deficiency. This type of factor VII deficiency occurs at birth. However, symptoms can appear at any age. Infants can experience symptoms of severe deficiency.

  • Acquired or Non-inherited Factor VII Deficiency - This type of factor VII deficiency is acquired rather than inherited. Factor VII may not function properly due to underlying health issues. It can also be caused by anti-clotting medications. The prevalence of acquired factor VII deficiency is higher than that of inherited factor VII deficiency.

What Are the Causes of Factor VII Deficiency?

Factor VII deficiency is inherited and is extremely rare. Additionally, it may be caused by a condition or medication (acquired factor VII deficiency). Some of the causes include:

  • Sepsis.

  • A lack of vitamin K.

  • Severe liver disease.

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

  • Myeloma (a plasma cell cancer).

  • Aplastic anemia (a rare condition in which the body ceases to produce enough new blood cells).

  • Medicines like antibiotics and blood thinners.

What Are the Signs and Symptoms of Factor VII Deficiency?

Depending on the levels of functional factor VII, the symptoms can range from mild to severe. Symptoms can include:

  • Frequently occurring bruising.

  • Soft tissue and muscle bleeding.

  • An injury or surgical wound that bleeds excessively or for an extended period of time.

  • Joint bleeding.

  • Blood in the urine.

  • Nosebleeds.

  • Gum bleeding.

  • Heavy menstrual flow.

  • Bleeding in the skull.

  • Gastrointestinal bleeding.

  • Joint cartilage destruction is caused by bleeding episodes.

  • Excessive bleeding after childbirth.

  • Bleeding in the intestines, stomach, muscles, or head.

How to Diagnose Factor VII Deficiency?

The medical history, any family history of bleeding problems, and laboratory tests are used to make a diagnosis. It can be detected while testing for other diseases. The physician will also look for symptoms such as excessive bleeding and slow blood clotting. The diagnosis includes:

  • Partial Thromboplastin Time (PTT) - The time it takes for a blood clot to form is measured by this test. When a person gets a cut or an injury that causes bleeding, proteins in the blood called coagulation factors join forces to form a blood clot. In order to draw blood, a needle is inserted. The test may also be used to monitor patients taking the blood thinner heparin. A PTT test is usually performed in conjunction with other tests, such as a prothrombin test.

  • Plasma Factor VII Activity - The factor VII assay is a blood test that measures factor VII activity. This test is used to determine the cause of unusual bleeding (decreased blood clotting). A low level of factor VII may be suspected of decreased clotting.

  • Prothrombin Time (PT) - Prothrombin time, also known as the PT or pro time test, is a blood clotting test. Prothrombin is a protein that the liver produces. It is one of many factors in the blood that aid in proper clotting. It is a blood test that determines how long it takes the blood's liquid portion (plasma) to clot. A blood sample is required to perform the test.

  • Prenatal Testing - A patient with a family history of bleeding disorders can have their umbilical cord blood tested while pregnant. Genetic testing is sometimes used to confirm a condition.

  • Inhibitors Testing - This test is done to see if the immune system is attacking the clotting factors. A blood test is used to diagnose them. The blood test determines whether an inhibitor is present as well as the amount of inhibitor present (known as an inhibitor titer) in the blood.

How to Treat Factor VII Deficiency?

There is no known cure for factor VII deficiency inherited from the parents. When a lack of vitamin K is the root cause, supplementing with vitamin K can help. The treatment of factor VII deficiency involves using clotting agents that prevent bleeding and promote blood clotting.

The first thing the physician would recommend is to control the bleeding. During a bleeding episode, individuals may be given blood clotting factor infusions to help their clotting ability. The frequently used clotting agents are human prothrombin complex, cryoprecipitate, fresh frozen plasma, and recombinant human factor VIIa.

Once the bleeding has been controlled, any medication or disease that impairs factor VII production or function must be addressed. This includes treating all underlying diseases. It is critical to treat the underlying diseases that cause factor VII deficiency. In order to resolve factor VII deficiency, conditions such as liver disease and vitamin K deficiency must be treated appropriately. If patients are taking antibiotics or blood thinners, their doctor may advise them to discontinue these and seek alternative treatment.

Conclusion

Factor VII (seven) deficiency is a condition caused by a lack of factor VII in the blood. It causes issues with blood clotting (coagulation). A damaged blood vessel usually causes blood clotting. Patients with this genetic disorder can be born with it. Other underlying health issues can also contribute to it. With proper treatment, individuals can expect a positive outcome. Because factor VII does not last long inside the body, individuals will require frequent treatment during bleeding episodes. The severity of the condition determines the signs and symptoms. There is no prevention.

Frequently Asked Questions

1.

Which Organ Produces Factor VII?

Factor VII, also referred to as proconvertin, is a coagulation factor produced by the liver. Vitamin K is essential for its production. Along with other coagulation factors, it helps in blood clotting.

2.

Is Hemophilia A a Factor VIII Deficiency?

Hemophilia A (classic hemophilia) occurs due to the deficiency or lack of clotting factor Ⅷ. The condition is characterized by excessive and extended bleeding episodes that occur spontaneously or following trauma. It is the most common inherited bleeding disorder and accounts for 80 percent of hemophilia.

3.

What Is Factor VIII Deficiency in Females?

A woman having a defective factor VIII gene becomes a carrier for hemophilia A. The defective gene may be passed down to the next generation. Male children of such carrier mothers have a 50 percent chance of having hemophilia. Female children of such carrier mothers have a 50 percent chance to become a carrier for the condition.

4.

What Role Does Factor VII Play?

Factor VII plays an important role in the coagulation cascade. In conjugation with the tissue factor released by damaged tissue, it initiates the coagulation cascade.

5.

What Vitamin Is Linked to Factor VII?

Factor VII is one of the vitamin-K-dependent clotting factors that play a vital role in blood coagulation. Other vitamin-K-dependent clotting factors are factors IX and X, protein C, protein S, and prothrombin. If vitamin K deficiency results in factor VII deficiency, then vitamin K supplements should be taken.

6.

What Activates Factor VII?

Factor VII is activated by proteases that are produced during the blood coagulation process. These are activated by a feedback mechanism. It is activated by the tissue factor released from the damaged tissue.

7.

Is Factor VII a Clotting Factor?

Specialized proteins that play a vital role in blood coagulation are referred to as clotting factors. Factor VII is one of the clotting factors produced by the liver and is also referred to as proconvertin. In conjugation with the tissue factor released by damaged tissue, it initiates the coagulation cascade.

8.

What Is the Normal Factor VII Level?

The blood test that is performed for measuring the activity of factor VII is referred to as factor VII assay. The normal value of the test ranges from 50 percent to 200 percent of the reference value. The normal value range can vary slightly among different laboratories.

9.

How Prevalent Is Factor VII Deficiency?

Factor VII deficiency is an uncommon bleeding disorder that affects 1 in 3 to 5 lakh individuals in the general population. It is equally prevalent in both females and males. The condition may often go misdiagnosed or undiagnosed, so the determination of exact prevalence is difficult.

10.

Is Factor VIIa a Protein?

Factor VIIa is a human-made protein that replicates the naturally present factor VIIa in one’s body. It is used to stop bleeding episodes in hemophilic patients. It is a trypsin-like serine protease that plays a vital role in blood coagulation.

11.

Is Factor VII Deficiency Curable?

Factor VII deficiency is an uncommon bleeding disorder due to reduced activity or deficiency of Factor VII. In cases where the condition is inherited, it can last lifelong and there is no permanent cure. In the case of acquired factor VII deficiency, the outlook mainly depends on the underlying etiology.
Dr. Pandian. P
Dr. Pandian. P

General Surgery

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