Factor X Deficiency
Factor X deficiency is a rare bleeding disorder characterized by a shortage or impairment of a key clotting protein, which can cause abnormal bleeding episodes ranging from mild bruising to life-threatening internal hemorrhages.
Overview
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. This condition occurs in approximately 1 per million individuals worldwide.
Symptoms
The symptoms of factor X deficiency can range from mild to severe and commonly include:
- Nosebleeds
- Easy bruising
- Bleeding under the skin
- Bleeding of the gums
- Blood in the urine (hematuria)
- Prolonged or excessive bleeding following surgery or trauma
- Heavy or prolonged menstrual bleeding (menorrhagia) in women
- Excessive bleeding during childbirth
- Increased risk of pregnancy loss (miscarriage)
- Bleeding into joint spaces (hemarthrosis)
In severe cases, individuals face an increased risk of life-threatening complications, including:
- Bleeding inside the skull (intracranial hemorrhage)
- Bleeding in the lungs (pulmonary hemorrhage)
- Bleeding in the gastrointestinal tract
Causes & Risk Factors
Factor X deficiency can be inherited or acquired later in life:
Congenital Factor X Deficiency
The inherited form of the disorder is caused by mutations in the F10 gene, which provides instructions for making the coagulation factor X protein. This protein plays a critical role in the coagulation system, a series of chemical reactions that forms blood clots in response to injury. There are two types of congenital factor X deficiency:
- Type I: Mutations reduce the overall amount of coagulation factor X in the bloodstream.
- Type II: Mutations result in the production of an altered coagulation factor X protein with impaired function.
Acquired Factor X Deficiency
The non-inherited form, known as acquired factor X deficiency, is more common than the congenital form. It can be caused by:
- Severe liver disease
- Systemic amyloidosis (a condition involving the accumulation of abnormal proteins called amyloids)
- Certain drugs, such as medicines that prevent clotting
- A deficiency of vitamin K
Inheritance
When caused by mutations in the F10 gene, the condition is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Acquired factor X deficiency is not inherited and generally occurs in individuals with no history of the disorder in their family.
Other Names
- Congenital Stuart factor deficiency
- F10 deficiency
- Stuart-Prower factor deficiency
