Factor VII deficiency is a rare genetic disorder. It occurs when your body can’t produce enough clotting factor VII, which helps in healing wounds. It can be hereditary or be caused by an underlying medical condition. Factor VII deficiency can result in excessive bleeding due to a wound or surgery.
Here is all you need to know about factor VII deficiency, along with its causes, symptoms, and treatments.
Clotting Factor VII
Your body produces 20 different clotting or coagulation factors. These are proteins that are produced by your body to heal wounds with blood clots.
Factor VII, also called proconvertin, is one such clotting factor produced by the liver. It requires vitamin K for its production. Along with other clotting factors and blood cells, it promotes blood clotting at the site of an injury. It forms normal blood clots and closes the wound to prevent blood loss.
Factor VII Deficiency
When your body can’t produce enough factor VII or when it doesn’t work properly, you can get factor VII deficiency. During this condition, your body can’t form blood clots, which can result in a wound bleeding too much.
Factor VII deficiency was first studied by Dr. Alexander, which is why it is also known as Alexander’s disease. It is also known as proconvertin deficiency or prothrombin conversion accelerator deficiency. It is a rare genetic disorder, which means you can inherit this condition at birth. It can also be caused by other underlying health issues.
Types and Causes
Factor VII deficiency is a very rare condition and is known to affect only one in 300,000 to 500,000 individuals. There are two types of this condition depending on the causes:
Inherited factor VII deficiency. Factor VII production depends on the FVII gene in your body. If both your parents have a mutation in the FVII gene, you can inherit two copies of the defective gene. This is called autosomal recessive inheritance, which can result in congenital or inherited factor VII deficiency.
This type of factor VII deficiency is present from birth. But the symptoms may start showing at any age. Severe deficiency can cause symptoms in infants.
Acquired or non-inherited factor VII deficiency. This type of factor VII deficiency is not inherited but is acquired after birth. It can be due to underlying health conditions that prevent factor VII from functioning properly. It can also be caused by medicines that prevent blood clotting.
Acquired factor VII deficiency is more common than the inherited form. The following underlying issues can cause acquired factor VII deficiency:
- Severe liver disease
- Sepsis
- Blood cell disorders like myeloma and aplastic anemia
- Vitamin K deficiency
- Medicines like antibiotics and blood thinners
Symptoms
The symptoms of factor VII deficiency can vary depending on the severity of the disease. These are its common symptoms:
- Frequent bruising
- Bleeding in soft tissues and muscles
- Prolonged or excessive bleeding from injuries or surgical wounds
- Bleeding in the spaces of joints
- Blood in urine
- Nosebleeds
- Bleeding gums
- Heavy menstrual bleeding
- Bleeding in the skull
- Bleeding in the gut
Diagnosis
Factor VII deficiency can be diagnosed by checking for a family history of bleeding disorders. It can be diagnosed while testing for underlying diseases. Your doctor will also check you for symptoms like excessive bleeding and delayed blood clotting.
The following tests can be done to check for factor VII deficiency:
1. Clotting tests. Tests like prothrombin time and activated partial thromboplastin time can find out how long it takes for your blood to clot. If you have normal activated partial thromboplastin time and longer prothrombin time, you may have factor VII deficiency.
2. Factor assays. A test known as factor VII assay can help measure the amount of factor VII in your blood. If you have low levels of factor VII, then you may be diagnosed with its deficiency.
3. Prenatal diagnosis. If you have a family history of bleeding disorders, umbilical cord blood can be tested when you are pregnant. Sometimes, genetic analysis is also done to confirm the condition.
Treatments
Factor VII deficiency can be treated using these clotting agents, which promote blood clotting and prevent bleeding:
Recombinant factor VIIa. This is a replacement therapy to help increase the levels of factor VII in your body. Lab-made or recombinant factor VIIa is injected continuously into your body to replenish its levels in your blood. Novoseven is the preferred recombinant factor VIIa drug that helps treat factor VII deficiency, especially the inherited type.
Prothrombin complex concentrates. Prothrombin is clotting factor II, which helps promote blood clotting. It is injected into your blood with other clotting factors in the form of prothrombin complex concentrates to control bleeding. But, the levels of clotting factors in these concentrates may vary.
Fresh frozen plasma and cryoprecipitate. These contain a mixture of continuously frozen and thawed plasma with clotting factors such as factor VIII and fibrinogen. They can be injected into your bloodstream to promote blood clotting and stop bleeding. This treatment is more economical, but it is less effective and may cause more blood clotting.
Antifibrinolytic agents. Antifibrinolytics like aminocaproic acid are agents that promote blood clotting. They are used to treat bleeding disorders like hemophilia. They are also used to improve the symptoms and prevent bleeding when you have factor VII deficiency.
The treatment of underlying diseases causing factor VII deficiency is important. Conditions such as liver disease and vitamin K deficiency must be treated appropriately to resolve factor VII deficiency.
If you are taking medicines like antibiotics or blood thinners, your doctor may stop those and prescribe you alternative medicines.