Factor xi

Factor XI Deficiency
Synonyms	Hemophilia C, Rosenthal syndrome
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Factor XI deficiency, also known as Hemophilia C or Rosenthal syndrome, is a rare genetic disorder that affects the blood's ability to clot properly. It is caused by a deficiency of Factor XI, a protein in the blood that is essential for the normal clotting process.

Genetics

Factor XI deficiency is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the condition. The gene responsible for Factor XI deficiency is located on chromosome 4.

Symptoms

The symptoms of Factor XI deficiency can vary widely among individuals. Some people may experience mild bleeding problems, while others may have more severe symptoms. Common symptoms include:

• Easy bruising
• Nosebleeds (epistaxis)
• Prolonged bleeding after surgery or injury
• Heavy or prolonged menstrual bleeding (menorrhagia)

Diagnosis

Diagnosis of Factor XI deficiency is typically made through blood tests that measure the levels of Factor XI activity. A prothrombin time (PT) and activated partial thromboplastin time (aPTT) test may also be used to assess the clotting ability of the blood.

Treatment

Treatment for Factor XI deficiency depends on the severity of the condition and the presence of symptoms. In mild cases, treatment may not be necessary. For individuals with more severe symptoms, treatment options may include:

• Fresh frozen plasma transfusions
• Antifibrinolytic agents such as tranexamic acid
• Desmopressin (DDAVP) in some cases

Prognosis

The prognosis for individuals with Factor XI deficiency is generally good, especially with appropriate management of bleeding episodes. Most people with the condition can lead normal lives with few restrictions.

Epidemiology

Factor XI deficiency is more common in certain populations, such as Ashkenazi Jews, where the prevalence is higher due to a higher carrier rate. It is estimated to affect approximately 1 in 1,000,000 people in the general population.

See also

• Hemophilia
• Coagulation disorders
• Genetic disorders

References

,

 Hemophilia C: A new disease, 
 Blood, 
 1953, 
 Vol. 8(Issue: 9), 
 pp. 721–731,

,

 Textbook of Hemophilia, 
  
 Blackwell Publishing, 
 2005, 
  
  
 ISBN 978-1-4051-2060-4,

External links

• National Hemophilia Foundation
• World Federation of Hemophilia