Hereditary factor VIII deficiency Save
ICD-10 code: D66
Chapter: Diseases of the blood and blood forming organs and certain disorders involving the immune mechanism
Understanding Hereditary Factor VIII Deficiency
Hereditary factor VIII deficiency, also known as hemophilia A, is a rare genetic disorder that affects the blood's ability to clot. This condition is caused by a deficiency of clotting factor VIII, a protein that is necessary for the formation of blood clots. Hemophilia A is typically inherited from one's parents and can affect both males and females.
The severity of hemophilia A can vary from person to person and is determined by the level of factor VIII in the blood. Individuals with mild hemophilia A may only experience bleeding after a significant injury or surgery, while those with severe hemophilia A may experience spontaneous bleeding into their joints and muscles.
Symptoms and Diagnosis
The most common symptom of hemophilia A is excessive bleeding, which can occur after an injury or surgery, or even spontaneously. Other symptoms may include bruising easily, joint pain and swelling, and prolonged bleeding after dental work.
A diagnosis of hemophilia A is typically made after a blood test to measure the level of factor VIII in the blood. Genetic testing may also be performed to confirm the diagnosis and determine the specific genetic mutation responsible for the disorder.
Treatment and Management
Currently, there is no cure for hemophilia A. However, there are several treatment options available to manage the symptoms of the condition and prevent complications. The most common treatment for hemophilia A is replacement therapy, which involves infusing clotting factor VIII into the bloodstream to increase its levels and improve blood clotting.
Other treatment options may include antifibrinolytic medications, which help to prevent the breakdown of blood clots, and physical therapy to help manage joint pain and swelling. It is also important for individuals with hemophilia A to take steps to prevent bleeding, such as avoiding contact sports, using soft-bristled toothbrushes, and wearing protective gear.
Conclusion
Hereditary factor VIII deficiency is a rare genetic disorder that can have a significant impact on an individual's health and quality of life. However, with proper management and treatment, individuals with hemophilia A can lead full and active lives. If you or a loved one is experiencing symptoms of hemophilia A, it is important to speak with a healthcare professional for proper diagnosis and treatment.