How is Hereditary Thrombophilia due to Congenital Protein S Deficiency diagnosed?

Hereditary Thrombophilia due to Congenital Protein S Deficiency Diagnosis

Hereditary thrombophilia is a genetic condition that increases the risk of developing abnormal blood clots. One specific cause of hereditary thrombophilia is congenital protein S deficiency, which is characterized by low levels or dysfunction of protein S, a natural anticoagulant in the blood.

Diagnosing hereditary thrombophilia due to congenital protein S deficiency involves a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests.

Medical History:

The healthcare provider will inquire about any personal or family history of blood clots, especially at a young age or in unusual locations. They will also ask about any known genetic disorders or medical conditions that may increase the risk of thrombosis.

Physical Examination:

During the physical examination, the healthcare provider may look for signs of blood clots, such as swelling, redness, or warmth in the affected area. They may also assess the patient's overall health and check for any underlying conditions that could contribute to thrombophilia.

Laboratory Tests:

Several laboratory tests are used to diagnose hereditary thrombophilia due to congenital protein S deficiency:

1. Protein S Assay: This test measures the level of protein S in the blood. Low levels of protein S may indicate a deficiency.


2. Functional Protein S Assay: This test evaluates the activity of protein S in the blood. If the protein S is not functioning properly, it may suggest a congenital deficiency.


3. Genetic Testing: Genetic testing can identify specific mutations or variations in the genes responsible for protein S production. This test can confirm the presence of a congenital protein S deficiency.


4. Other Coagulation Tests: Additional tests may be performed to assess other factors involved in blood clotting, such as protein C, antithrombin III, and factor V Leiden mutation.

It is important to note that the diagnosis of hereditary thrombophilia due to congenital protein S deficiency should be made by a qualified healthcare professional. The interpretation of test results should consider the patient's clinical presentation, family history, and other relevant factors.