Factor VII deficiency
Factor VII Deficiency
Factor VII deficiency (pronounced as "Factor Seven Deficiency"), also known as Alexandria's Disease or Hypoproconvertinemia, is a rare genetic disorder that is characterized by the lack of Factor VII, a protein that plays a crucial role in the process of blood clotting.
Etymology
The term "Factor VII deficiency" is derived from the name of the deficient protein, Factor VII, which is one of the many clotting factors in the human body. The term "deficiency" refers to the lack or insufficiency of something.
Definition
Factor VII deficiency is a bleeding disorder that is caused by a lack of Factor VII, a protein that is necessary for blood to clot. This deficiency can lead to excessive bleeding after an injury or surgery, and in severe cases, spontaneous bleeding can occur.
Symptoms
The symptoms of Factor VII deficiency can vary greatly from person to person. Some individuals may experience no symptoms, while others may have severe bleeding problems. Common symptoms include nosebleeds, bruising, menorrhagia (heavy menstrual bleeding), and bleeding in the joints.
Causes
Factor VII deficiency is caused by mutations in the F7 gene, which provides instructions for making Factor VII. This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Factor VII deficiency is typically made through a series of blood tests, including a prothrombin time (PT) test and a factor VII activity test. Genetic testing may also be performed to identify mutations in the F7 gene.
Treatment
Treatment for Factor VII deficiency typically involves replacing the missing Factor VII through infusions of a blood product that contains Factor VII. In some cases, a synthetic version of Factor VII may be used.
Related Terms
External links
- Medical encyclopedia article on Factor VII deficiency
- Wikipedia's article - Factor VII deficiency
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