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Friday, Jan 09, 2009 | 01:50 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Factor V Deficiency
Parahemophilia, Owren's Disease
Sunday, 18 January 2004
Last Updated Sunday, 28 November 2004
What
Normal blood clotting is a complex process involving many proteins known as blood coagulation factors. A series of complex chemical reactions using these factors takes place after blood vessels are injured to form a clot that stops bleeding. Factor V deficiency is an inherited abnormal blood coagulation or clotting disorder caused by a deficiency of the blood protein called factor V. Bleeding ranges from mild to severe and is similar to hemophilia (a more severe disorder of blood hemorrhages) except bleeding into joints is less common.Who
Factor V deficiency is found more commonly in families with bleeding disorders, of which there are many different types. Factor V deficiency is quite rare with only 150 cases being reported worldwide. The incidence is estimated about one case in one million persons. Males and females are affected equally, and there is no racial preference.Signs and Symptoms
: Children born with factor V deficiency can have any of the following symptoms of varying severity:
- Hematoma or elevated bumps under the skin from bleeding
- Large, slow to heal bruises
- Nose bleeds
- Bleeding of the gums with tooth brushing
- Prolonged bleeding when a tooth is removed
- Excessive menstrual bleeding
- Prolonged or excessive blood loss with surgery or trauma
- Umbilical stump bleeding
Possible Causes
Factor V deficiency is caused by inheriting two copies of a defective factor V gene, one from each parent. Children who inherit only one defective gene from a parent are carriers and may or may not have signs or symptoms of difficulty with bleeding and clotting after trauma. As carriers, they can also pass on the defective gene to their children. Another way people may be deficient in factor V is to have advanced or end-stage liver disease because the factor V protein in made in the liver.Diagnosis
The diagnosis can be made by a special blood test known as the factor V assay that directly measures the level of factor V in the blood. This assay will show a low level of factor V which confirms the diagnosis. Other blood tests that may be abnormal include a prolonged bleeding time, partial thromboplastin time (PTT), and prothrombin time (PT).Treatment
The treatment of factor V deficiency is focused on maintaining adequate blood factor levels to stop active bleeding. Since there is no factor V concentrate preparation available, replacement of factor levels is accomplished through transfusions of fresh frozen plasma (FFP). Daily infusions of FFP may be needed during serious bleeding episodes. Patients undergoing planned surgery will need FFP infusions reserved in advance. Although most bleeding episodes in children with factor V deficiency are mild, those children who have severe episodes can bleed profusely. Those parents should learn as much as possible about how to prevent bleeding possibilities and what to do in case an accident happens. They can learn to pad the sides of their child’s bed, high chairs, strollers and other equipment to prevent bruising. Using soft bristle tooth brushes or wash clothes to cleanse teeth can prevent gum bleeding. Learning first aid and how to handle cuts and trauma help parents feel more in control. Keeping a currentPrognosis
Children with factor V deficiency do well when the diagnosis is made promptly and fresh frozen plasma is readily available when needed.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
Medline Plus
A very good summary of the disease with nice definitions of medical terms.
National Hemophilia Foundation
A nice summary of the disease.