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All About Bleeding

Rare Bleeding Disorders

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Rare bleeding disorders are deficiencies in clotting factors I, II, V, VII, X, XI and XIII. In general, these rare bleeding disorders are inherited in an autosomal recessive fashion, which means that they may affect men and women equally. This also means that when the gene for the defective factor is inherited from only one parent, the child will be a carrier of the condition, though he or she will usually not have symptoms. New mutations may also appear; in these cases, the family history will be negative. In populations with a tradition for consanguinity (marriage to a relative), incidence and prevalence may increase significantly.

Factor I (FI) deficiency

Factor I deficiency is a collective term for three rare inherited fibrinogen deficiencies: afibrinogenemia (fibrinogen absent), hypofibrinogenemia (low levels of fibrinogen) and dysfibrinogenemia (dysfunctional fibrinogen). About 1 to 2 people out of 1 million will have a FI deficiency.

Factor I deficiency symptoms include:
  • Easy bruising
  • Nose and mouth bleeds
  • Soft tissue bleeds
  • Occasional thrombotic episodes
  • Recurrent miscarriages

For more information about Factor I deficiency treatment options, please visit the following resources*:

Factor II (FII) deficiency

Congenital prothrombin (FII) deficiency is very rare and estimated at 1:2,000,000 individuals. It may be quantitative (type 1 prothrombin deficiency) or qualitative (dysprothrombinemia). Both forms are usually symptomatic at levels below 25% of normal FII activity.

Factor V (FV) deficiency

FV deficiency is a rare, inherited bleeding disorder with an incidence of 1 in 1,000,000 individuals. Symptoms range from mild to severe. More than 15 mutations are known to cause this condition, and approximately 200 cases have been described so far.

Factor VII (FVII) deficiency

It is estimated that FVII deficiency occurs in 1 in 500,000 people. FVII deficiency can be severe. Patients with less than 1% FVII activity may experience symptoms similar to hemophilia. FVII deficiency presents with a wide spectrum of symptom severity that sometimes correlates poorly with FVII levels, a number of patients with undetectable FVII being totally asymptomatic.

Other factor VII deficiency symptoms include:
  • Hemarthrosis
  • Spontaneous epistaxis
  • Gastrointestinal, genitourinary bleeding
  • Menorrhagia

Factor X (FX) deficiency

The incidence of FX deficiency is estimated at 1 in 500,000 births. People with mild forms of FX deficiency usually do not have bleeding episodes but may experience bleeding after trauma or surgery. The symptoms of severe FX deficiency are similar to hemophilia; however, intracranial bleeds are seen more often in FX deficiency. In addition, women with FX deficiency may have menorrhagia or be susceptible to first-trimester miscarriage.

For more information about Factor X deficiency treatment options, please visit the following resources:*

Factor XI (FXI) deficiency

The incidence of FXI deficiency (sometimes called hemophilia C) is estimated at 1 in 1,000,000 individuals; however, the disease is much more common in Ashkenazi Jews, with a prevalence of 1:190 homozygous (carrying two defect genes). Patients with FXI deficiency rarely have spontaneous bleeds but may need treatment for surgery. There is a poor relationship between factor levels and bleeding tendency.

Factor XI deficiency symptoms may include:
  • Bruising
  • Epistaxis
  • Hematuria
  • Hemorrhage after trauma or surgery
  • Menorrhagia and prolonged bleeding after childbirth

Factor XIII (FXIII) deficiency

FXIII deficiency is the rarest of the factor deficiencies, affecting an estimated 1 in 5 million births. Prolonged bleeding is associated with the lack of FXIII but is usually seen only after a trauma. In addition, there is a high risk of head bleeds with or without trauma among severe patients.

Other common factor XIII deficiency symptoms include:
  • Soft tissue bleeds
  • Menorrhagia
  • Joint bleeding
  • Persistent bleeding during circumcision or at the site of the umbilical cord
  • Impaired wound healing
  • Recurrent hemoperitoneum during ovulation
  • Recurrent miscarriages

For more information about Factor XIII deficiency treatment options, please visit the following resources*:

*Not all products are available in every country. To learn what products are available in your country, visit your CSL Behring country site.


Last Updated: 7/22/2014 9:38 PM
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