Congenital Factor VII deficiency

Synonyms

3

Overview

Factor VII deficiency is an inherited bleeding disorder that is caused by a problem with factor VII. Because the body produces less factor VII than it should, or because the factor VII is not working properly, the clotting reaction is blocked prematurely and the blood clot does not form.

Factor VII 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 VII 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 VII 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 Coumadin.

Symptoms

The symptoms of factor VII deficiency are different for everyone. As a general rule, the less factor VII a person has in his/her blood, the more frequent and/or severe the symptoms. People with very low levels of factor VII can have very serious symptoms.

Common symptoms:

  • nosebleeds (epistaxis)
  • easy bruising
  • heavy or prolonged menstrual bleeding (menorrhagia)
  • bleeding in the mouth, particularly after dental surgery or tooth extraction
  • bleeding in the head (newborns)
  • heavy bleeding at circumcision

Other reported symptoms:

  • bleeding in the gut (gastrointestinal bleeding)
  • bleeding into joints (hemarthrosis)
  • muscle bleeds
  • bleeding in the central nervous system (the brain and spinal cord)
  • abnormal bleeding during or after injury, surgery, or childbirth

Rare symptoms:

  • blood in urine (hematuria)
  • bleeding from the umbilical cord stump at birth

Causes

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Prevention

This disorder is passed through families (inherited). There is no known prevention.

Diagnosis

Factor VII deficiency is diagnosed by a variety of blood tests that should be performed by a specialist.

Prognosis

The outcome can be good with proper treatment.

Treatment

  • Recombinant VIIa concentrate (rFVIIa)
  • Factor VII concentrate
  • Prothrombin complex concentrate (PCC) containing factor VII
  • Fresh frozen plasma (FFP)

Approved therapies:
Coagulation Factor VIIa (Recombinant) (NovoSeven RT) - FDA-approved indication: Treatment of bleeding episodes in patients with Factor VII Deficiency. Treatment and peri-operative management of Glanzmann's thrombasthenia with refractoriness to platelet transfusions, with or without antibodies to platelets. 

Resources

Refer to Research Publications.