Factor X deficiency

Synonyms

4

Overview

Factor X deficiency is a rare condition that affects the blood's ability to clot. The severity of the condition and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Affected women may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriage. 

Acquired (non-inherited) factor X deficiency, which is the most common form of the condition, generally occurs in people with no family history of the condition. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and cancers.

The inherited form of factor X deficiency (congenital factor X deficiency) is caused by mutations in the F10 gene and is inherited in an autosomal recessive manner. Treatment aims to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors.

Congenital factor X deficiency is among the most rare factor disorders, affecting an estimated one individual per 500,000-1,000,000 population worldwide. Only 50 cases of congenital factor X deficiency have been documented worldwide. 

Symptoms

Signs and symptoms may include:

  • Nose bleeds 
  • The loss of blood into joints 
  • Muscle bleeding
  • Mucous membrane bleeding
  • Intracranial bleeding
  • Intensive menstrual bleeding
  • Easy bruisng
  • Excessive bleeding during or following surgery or trauma

Causes

Acquired factor X deficiency : most common causes such as liver disease, vitamin K deficiency, or anticoagulant drugs such as warfarin. Factor X deficiency has also been reported in association with a variety of medical conditions

Inherited form of factor X deficiency (congenital factor X deficiency): caused by mutations in the F10 gene and is inherited in an autosomal recessive manner.

Another cause of factor X deficiency is amyloidosis (a disorder in which protein fibers that can't dissolve deposit in tissues and organs and affect their function). 

Decreases in factor X levels have also been noted in association with the following:

  • Mycoplasma pneumoniae infection
  • Lupus anticoagulant
  • Sodium valproate administration
  • Upper respiratory tract infection 
  • Leprosy
  • Severe burns in a child 
  • Topical thrombin administration

Prevention

Not known.

Diagnosis

  • Prolonged prothrombin time
  • Prolonged partial thromboplastin time 
  • Low factor X activity
  • Normal thrombin time

Prognosis

The prognosis for patients with factor X deficiency depends on the etiology and severity of the disease. Although acquired factor X deficiency may be eliminated by treating the underlying cause, the congenital form of the disease is lifelong and is among the most severe clotting factor disorders. In general, patients with very low levels of functional factor X have a greater tendency to hemorrhage and face a greater risk of life-threatening complications.

Treatment

Treatment for the bleeding disorder mainly the administration of fresh frozen plasma and prothrombin complex concentrates may be used to increase factor X levels during sudden (acute) episodes or before surgery. If the disorder is caused by amyloidosis, surgery is done to remove the spleen.

Human factor X  (Coagadex) - FDA-approved indication: Treatment of hereditary factor X deficiency.

Vitamin K administration may be useful in certain patients with acquired factor X deficiency; however, it has been amply demonstrated that patients with inherited factor X deficiency do not respond to vitamin K.