TRHROMBOPHILLIA PROFILE (ACQUIRED AND INHERITED)

Inherited thrombophilia is caused by genetic defects present from birth (e.g., Factor V Leiden, prothrombin mutation, protein C/S or antithrombin deficiency) that increase lifelong clot risk. Acquired thrombophilia develops later due to conditions or triggers such as antiphospholipid syndrome, cancer, pregnancy, surgery, immobility, or medications and may be transient or persistent. Diagnosis uses blood tests; treatment focuses on anticoagulation and treating underlying causes.

Yes. Thrombophilia can be inherited — common genetic types include Factor V Leiden, prothrombin G20210A and deficiencies of protein C, protein S or antithrombin. These often follow an autosomal dominant pattern with variable penetrance and raise the risk of venous clots and pregnancy complications, though not everyone with a mutation develops clots. Family history and targeted testing guide management.

An example of acquired thrombophilia is antiphospholipid syndrome (APS). APS is an autoimmune disorder with antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, anti–β2‑glycoprotein I) that raise the risk of venous and arterial clots and pregnancy complications such as recurrent miscarriage. Diagnosis requires clinical events plus persistent positive antibody tests; treatment often involves anticoagulation.

The main tests for acquired thrombophilia assess antiphospholipid syndrome: lupus anticoagulant, anticardiolipin (IgG/IgM) and anti–β2‑glycoprotein I antibodies. These blood tests are usually repeated at least 12 weeks to confirm persistence. Results can be affected by recent thrombosis or anticoagulant therapy, so timing and specialist interpretation are important. Additional work-up may investigate underlying causes when indicated.

Inherited genes (germline) are DNA variants passed from parents at conception, present in every cell and potentially causing hereditary conditions. Acquired changes (somatic mutations) arise during life in specific cells from environmental exposure, aging, or replication errors; they are not transmitted to offspring and often underlie cancers or localized disorders. Inherited affects whole-body and family risk; acquired is cell-specific and nonheritable.

Inherited factor V deficiency is a rare autosomal recessive condition from F5 gene mutations, present from birth with variable bleeding and prolonged PT/aPTT; carriers may be asymptomatic. Acquired deficiency develops later due to inhibitors (autoantibodies), drugs, or exposure to bovine thrombin, often causing sudden bleeding. Management differs: plasma replacement for congenital cases vs immunosuppression/plasma exchange for inhibitor-mediated cases.