Thrombophilia

Thrombophilia is an inherited or acquired tendency to form blood clots. It describes risk. It does not mean that a clot is present today. Inherited and acquired thrombophilias are common in the general population, but most carriers never develop a clot. The main inherited types are factor V Leiden (FVL), the prothrombin gene mutation G20210A (PGM), and deficiencies of the natural anticoagulants protein C, protein S and antithrombin (AT). The main acquired type is antiphospholipid syndrome (APS). APS is an autoimmune condition defined by persistent antiphospholipid antibodies together with thrombosis or pregnancy complications. Epidemiology that matters for nursing: - Heterozygous FVL is the most common inherited thrombophilia. A 2016 guidance paper (Stevens 2016, Table 2) lists a heterozygous prevalence of about 2% to 7%. - Heterozygous PGM is listed at about 1% to 2% (Stevens 2016, Table 2). - Homozygous FVL, homozygous PGM and combined FVL plus PGM are uncommon. - Inherited protein C, protein S and AT deficiencies are rare. - Venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE), is common. When a patient...