Factor XII deficiency
Factor XII Deficiency
Factor XII deficiency (pronounced: fak-tor twelve de-fi-ciency), also known as Hageman factor deficiency, is a rare genetic disorder that affects the body's ability to form blood clots. This condition is inherited in an autosomal recessive manner.
Etymology
The condition is named after Dr. John Hageman, who first discovered it in the 1950s. The term "Factor XII" refers to the twelfth identified factor in the blood clotting cascade.
Definition
Factor XII deficiency is characterized by a lack of Factor XII, a protein that plays a crucial role in the coagulation process. Despite this, individuals with the condition do not typically have a bleeding tendency, which distinguishes it from most other coagulation disorders.
Symptoms
Symptoms of Factor XII deficiency can vary greatly from person to person. Some individuals may not experience any symptoms, while others may have prolonged clotting times, which can be detected through laboratory testing. However, these prolonged clotting times do not typically lead to excessive bleeding.
Diagnosis
Diagnosis of Factor XII deficiency is typically made through blood tests that measure the time it takes for blood to clot. These tests may include a prothrombin time (PT) test and an activated partial thromboplastin time (aPTT) test.
Treatment
There is currently no specific treatment for Factor XII deficiency, as individuals with the condition do not typically experience bleeding problems. Treatment is usually only necessary if the individual is undergoing surgery or has another condition that affects blood clotting.
Related Terms
- Coagulation
- Blood clotting
- Prothrombin time
- Activated partial thromboplastin time
- Coagulation disorders
External links
- Medical encyclopedia article on Factor XII deficiency
- Wikipedia's article - Factor XII deficiency
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