What Is Combined Factor V and Factor VIII Deficiency? 

Combined factor V and factor VIII deficiency is a very rare inherited bleeding disorder. It is completely separate from factor V deficiency and FVIII deficiency. Factor V and factor VIII are proteins in the blood which help blood clot. In this disorder, levels of both factors are lower than normal, between 5% and 20% of normal levels. Most cases are found around the Mediterranean Sea, especially in Israel, Iran, and Italy. In the general population it affects about one in 1,000,000 people.

However, among Middle Eastern Jewish and non-Jewish Iranians, it is reported to affect about one in 100,000 people.

Combined factor V and factor VIII deficiency is passed from parent to child and is an autosomal recessive disorder, meaning that both parents must carry the defective gene in order to pass it on to their child and that it affects both males and females. In extremely rare cases, instead of inheriting a single defective combined factor V-VIII gene, a child could inherit a defective factor V gene from both parents and a defective factor VIII gene from one parent.

Symptoms

People with combined factor V and factor VIII deficiency may experience:

  • easy bruising
  • nose bleeds
  • heavy or prolonged menstrual bleeding (menorrhagia)
  • prolonged bleeding after delivery
  • abnormal bleeding during or after surgery, circumcision, or dental procedures
  • bleeding after a trauma (injury)
  • bleeding into joints (hemarthroses) (rare)
  • bleeding from the umbilical cord stump at birth (rare)

Diagnosis

Combined factor V and factor VIII deficiency is diagnosed by a variety of blood tests to see if there is a bleeding disorder and, if so, to determine which one it is.

Treatment

Combined factor V and factor VIII deficiency is treated with

  • fresh frozen plasma (FFP) to correct the factor V deficiency

and

  • desmopressin, a synthetic hormone which raises factor VIII levels OR factor VIII concentrates to raise the factor VIII level (depending upon the severity of the deficiency and the nature of the injury or surgery).

Content reviewed by Dr. Paula Bolton-Maggs
Consultant Haemotologist
Manchester Haemophilia Comprehensive Care
Manchester Royal Infirmary
Manchester, UK.

 

Last updated December 2007

 

© Copyright World Federation of Hemophilia 2007