An inherited bleeding disorder characterized by low levels or dysfunction of factor VII, a protein crucial to blood clotting, factor 7 deficiency is also known as Alexander's disease. This blog post discusses the causes, symptoms, diagnosis, treatment, and prevention strategies of factor 7 deficiency.
Causes
Factor 7 deficiency is caused primarily by mutations in the F7 gene, which provides instructions for making factor VII. When factor VII is impaired or not produced, a genetic mutation can cause abnormal blood clotting and bleeding episodes.
Symptoms
Factor 7 deficiency can result in a wide range of symptoms. It is possible for some people to experience minimal bleeding symptoms, while others may experience more significant bleeding tendencies. Common symptoms include:
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Bruising caused by minor injuries or trauma is easy.
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After cuts, dental procedures, or surgeries, prolonged bleeding may occur.
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A nosebleed (epistaxis) that occurs frequently or for an extended period of time.
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Menstrual bleeding that is excessive or prolonged in females is known as heavy menstrual bleeding.
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Pain, swelling, and limited mobility are symptoms of bleeding into joints, or hemarthrosis.
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Blood in the stool or vomit is a sign of bleeding in the digestive tract.
Diagnosis
Diagnosing factor 7 deficiency typically involves:
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A review of the patient's personal and family medical history, including any bleeding symptoms or previous bleeding disorders diagnoses.
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Factor VII activity and blood clotting ability are measured in blood tests. The tests may include coagulation tests such as prothrombin time (PT) and specific factor tests.
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Tests to identify mutations in the F7 gene, which confirms the diagnosis of factor 7 deficiency, particularly in cases of inconclusive family history.
Treatment
In the treatment of factor 7 deficiency, bleeding episodes are prevented or controlled by:
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Infusion of clotting factor concentrates containing factor VII to restore normal blood clotting function. On the basis of the severity of the deficiency and the presence of bleeding symptoms, this may be administered prophylactically or on demand.
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In certain situations, such as heavy menstrual bleeding or nosebleeds, antifibrinolytic agents, such as tranexamic acid, may be prescribed to stabilize blood clots and reduce bleeding.
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Taking precautions to minimize bleeding episodes, such as avoiding medications that impair blood clotting or participating in high-risk activities.
Prevention
It is primarily genetic counseling and testing that prevent complications associated with factor 7 deficiency. Prenatal testing may also be offered to at-risk couples during pregnancy to assess the risk of passing the condition to their children. Additionally, early diagnosis and appropriate management of factor 7 deficiency can help prevent bleeding complications and improve outcomes for affected individuals.
Factor 7 deficiency is a rare bleeding disorder characterized by low levels or dysfunction of factor VII, a protein that plays a crucial role in blood clotting. Factor 7 deficiency is currently incurable, but with timely diagnosis, comprehensive care, and appropriate treatment, bleeding complications can be prevented and the quality of life improved. A healthcare professional specializing in bleeding disorders should be consulted if you suspect you or someone you know has factor 7 deficiency.
