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Additional entries in our database that you might find useful:   Gardner Syndrome

What

Factor X deficiency is a disorder of abnormal blood clotting (coagulation), caused by a shortage of a plasma protein called factor X. Factor X is a vitamin K dependent protein that plays a critical role with other clotting factors to form a substance called fibrin that stops bleeding. Without adequate levels of factor X, simply cuts and bruises can become significant sources of bleeding.

Who

This is an extremely rare inherited disorder. It is not sex-linked as is hemophilia. It affects both males and females with equal frequency. It is autosomal recessive, which means a child must inherit two copies of a defective gene, one from each parent, to develop the disorder. The estimated frequency is 1 in every 500,000 people.

Signs and Symptoms

Children with factor X deficiency may demonstrate the following:

• Nose bleeds
  
• The loss of blood into joints
  
• Muscle bleeding
  
• Mucous membrane bleeding (mouth, eyes)
  
• Frequent bruising
  
• Gastrointestinal bleeding
  
• Excessive menstrual bleeding Note: severity of bleeding complications depends on the level of factor X clotting activity

Possible Causes

Some cases of factor X deficiency are due to reduced or absent production of the factor X molecule. In other cases, the number of factor X molecules is normal, but they don't work properly. Several genetic variations of factor X deficiency of varying severity have been described. Beyond the inherited forms, other acquired causes of factor X deficiency include liver disease, leprosy, certain types of cancer, and a condition known as amyloidosis that results in the deposition of harmful immune system proteins. These causes are generally less common than the inherited forms.

Diagnosis

The diagnosis of factor X deficiency can be made by directly measuring the levels of factor X in the blood through a test known as the factor X assay. Other non-specific blood tests that are usually abnormal include the prothrombin time (PT) and partial thromboplastin time (PTT). If there is concern for an acquired cause, appropriate blood work and imaging studies will be performed.

Treatment

Bleeding episodes are usually managed by infusion of fresh frozen plasma, factor X concentrates, or PCCs (Prothrombin complex concentrates). The goal of treatment is to replenish factor X levels until bleeding has stopped. For patients undergoing planned surgery, your doctor may order a pre-operative infusion to raise factor X levels.

Prognosis

Complications such as severe bleeding or hemorrhage into the head or muscles can be avoided with prompt attention to any trauma, knowing how to diagnose bleeding sites in the child, and aggressive management with the necessary infusions. Avoidance of unnecessary trauma and early recognition of prolonged bleeding is critical.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Hemophilia Foundation
National organization that specializes in bleeding disorders.

Medline Plus
A very good summary of the disease with nice definitions of medical terms

Canadian Hemophilia Society
A nice summary of the disease, with links to other sites.

Google Search for Factor X Deficiency

References and Sources

National Hemophilia Foundation www.hemophilia.org/bdi/bdi_types8.htm