Medicine
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Thrombophilia

Thrombophilia

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Pathology

An increased tendency to form clots in the arterial or venous systems of the body is a pathology that affects a large portion of the population.

Aetiology

The aetiology of this condition is often an inherited or acquired tendency to have an imbalance between pro and anti-coagulant factors. This can be caused by a number of different things, such as protein C deficiency, protein S deficiency, antithrombin III deficiency, or factor V Leiden (which is the most common hereditable thrombophilia).

Secondary Causes

Along with the primary causes, there are also secondary causes, such as immobility, recent surgery, malignancy, smoking, pregnancy, anti-phospholipid syndrome, and use of the oral contraceptive pill.

Symptoms

These can either be asymptomatic or could present as features of thrombosis, deep vein thrombosis/pulmonary embolism, or thrombosis in atypical sites.

Signs

The most common signs of this condition are recurrent thromboembolism or miscarriage.

Investigations

The most common tests used to investigate this condition are blood tests such as a full blood count, clotting screen, lupus anticoagulant, anticardiolipin antibodies, and assays for antithrombin, protein C, and protein S. Additionally, a polymerase chain reaction (PCR) test could be done for factor V Leiden.

Treatment

The medical treatments for this condition involve treating any form of thrombosis and providing prophylactic measures, such as compression stockings or anticoagulation, for those at higher risk.

Complications

There is a variable risk of thrombosis and its complications that can be associated with this condition.

Prognosis

The prognosis for those suffering from this condition is variable.

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