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Clotting Factor Deficiences

Overview

Rare clotting factor deficiencies are a group of inherited bleeding disorders caused by a problem with one or several clotting factors.1

 

Clotting factors are proteins in the blood that control bleeding. Many different clotting factors work together in a series of chemical reactions to stop bleeding. This is called the clotting process.1

 

Problems with factor VIII and factor IX are known as hemophilia A and B, respectively. Rare clotting factor deficiencies are bleeding disorders in which one of the other clotting factors (i.e. factors I, II, V, V + VIII, VII, X, XI, or XIII) is missing or not working properly. Less is known about these disorders because they are diagnosed so rarely. In fact, many have only been discovered in the last 40 years.1

Symptoms

Symptoms vary depending on the type of the clotting factor (I, II, V, V + VIII, VII, X, XI, or XIII) but the following symptoms are among the most common ones:

 

  • nosebleeds (epistaxis)
  • easy bruising
  • heavy or prolonged menstrual bleeding (menorrhagia)
  • bleeding into joints (hemarthrosis)
  • muscle bleeds
  • bleeding in the mouth, particularly after dental surgery or tooth extraction2
Causes and Risk Factors

Inherited deficiencies of coagulation factors, other than hemophilia A and B and von Willebrand disease, are rare bleeding disorders transmitted in an autosomal recessive pattern. The majority of symptomatic patients are homozygous or compound heterozygous with higher prevalences in certain communities (i.e., factor Xl (FXl) deficiency in Ashkenazi Jews) or where consanguineous marriages are common.3

1. World Federation of Hemophilia. https://www.wfh.org/en/page.aspx?pid=662; https://www.wfh.org/en/page.aspx?pid=666
2. Shire Hematology. Types of Bleeding Disorders and Factor Deficiencies. https://www.bleedingdisorders.com/bleeding-disorders-info/types-of-bleeding-disorders
3. Cancer Therapy Advisor. Other Inherited Coagulation Factor Deficiencies. https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/hematology/other-inherited-coagulation-factor-deficiencies/
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