Thrombophilia: Treatment, symptoms, advice and help
Thrombophilia is a blood disease where there is a tendency to thrombosis (blood clots) due to an abnormality in the system of coagulation.
Thrombophilia: Incidence, age and sex
Approximately 5-8% of the world population has thrombophilia. Nevertheless, most of these only develop thrombosis in the presence of an additional risk factor. No gender predilection has been documented.
Signs and symptoms of thrombophilia: Diagnosis
The most common symptoms of thrombophilia are deep vein thrombosis (DVT) and pulmonary embolism (PE).DVT usually occurs in the legs, and is characterized by pain, swelling and redness of the limb. The clot may also break off and migrate (embolism) to the lungs. This may lead to sudden-onset shortness of breath, chest pain, palpitations and may be complicated by collapse, shock and cardiac arrest.
Laboratory investigation of thrombophilia include antithrombin, Protein C, Protein S, Prothrombin, Factor V Leiden, Thrombin / reptilase time (for dysfibrinogenaemia), antiphospholipid antibody / lupus anticoagulant / anticardolipin antibody, homocysteine, factor VIII. Indications for a thrombophilia screening include venous thrombosis < 45 years, recurrent venous thrombosis, family history of venous thrombosis
Causes & prevention of thrombophilia
Causes of thrombophilia may be acquired or congenital. Acquired refers to such conditions that may increase the tendency to clot such as antiphospholipid antibodies or a temporary hypercoagulable state such as pregnancy. Also, advanced carcinomas of the pancreas or lung may produce Trousseau syndrome, which creates a hypercoagulable state.
Congenital refers to hereditary conditions that increase the tendency to clot. These include factor V Leiden, prothrombin, protein C, protein S and antithrombin deficiencies. Keeping a healthy weight, regular exercise, avoiding smoking and a healthy diet may reduce the risk of thrombosis.
Venous thrombosis may occur in other places like in the brain (cerebral venous sinus thrombosis and kidney (renal vein thrombosis).Myocardial infarction (heart attack) and stroke are caused by arterial thrombosis. Protein C deficiency may cause purpura fulminans, a severe clotting disorder in the newborn that leads bleeding into the skin and other organs.
Thrombophilia has been linked to both recurrent miscarriage and possibly various complications of pregnancy such as intrauterine growth restriction, stillbirth, severe pre-eclampsia and abruptio placentae.
There is no specific treatment for most thrombophilias, but recurrent episodes of thrombosis may be an indication for long-term preventative oral anticoagulation.