Primary thrombophilia Save
ICD-10 code: D68.5
Chapter: Diseases of the blood and blood forming organs and certain disorders involving the immune mechanism
Understanding Primary Thrombophilia
Primary thrombophilia is a genetic condition that causes an increased risk of blood clotting. This condition is caused by mutations in genes involved in blood clotting. People with primary thrombophilia are more likely to develop blood clots in the veins, which can lead to serious health problems such as deep vein thrombosis (DVT) and pulmonary embolism.
There are several types of primary thrombophilia, including:
- Factor V Leiden
- Prothrombin gene mutation
- Antithrombin deficiency
- Protein C deficiency
- Protein S deficiency
Factor V Leiden is the most common type of primary thrombophilia, accounting for about 40% of cases. This condition is caused by a mutation in the factor V gene, which makes a protein that helps blood clot. The mutation makes the protein resistant to inactivation, which leads to an increased risk of blood clots.
The prothrombin gene mutation is another common type of primary thrombophilia, accounting for about 10% of cases. This condition is caused by a mutation in the prothrombin gene, which makes a protein that also helps blood clot. The mutation leads to an increased production of the protein, which increases the risk of blood clots.
Antithrombin deficiency, protein C deficiency, and protein S deficiency are less common types of primary thrombophilia. These conditions are caused by mutations in genes that regulate blood clotting. People with these conditions have a deficiency of the proteins that help prevent blood clots, which increases their risk of developing blood clots.
People with primary thrombophilia may not have any symptoms until they develop a blood clot. Symptoms of a blood clot may include swelling, pain, warmth, and redness in the affected area. If a blood clot breaks off and travels to the lungs, it can cause shortness of breath, chest pain, and coughing up blood.
Treatment for primary thrombophilia may include blood-thinning medications, such as warfarin or heparin, to prevent blood clots. People with primary thrombophilia may also need to make lifestyle changes, such as quitting smoking, losing weight, and exercising regularly, to reduce their risk of blood clots.
In conclusion, primary thrombophilia is a genetic condition that increases the risk of blood clotting. There are several types of primary thrombophilia, each caused by a mutation in a gene involved in blood clotting. Symptoms may not be present until a blood clot develops, so it's important for people with primary thrombophilia to be aware of their increased risk and