Thrombophilia syndrome and pregnancy

There are several chemicals and enzymes in the body, an interplay of which keep the perfect balance in the clotting mechanism. This is a finely tuned system, which prevents undue clotting of blood and allows and promotes this when the need arises. This may happen when there is an injury and a clot is required to prevent excessive blood loss.

If this balance of the clotting mechanism is upset, there will either be a risk of excessive bleeding or tendency to abnormal clot formation. With Thrombophilia syndrome, there is undue clotting and therefore an increased susceptibility to deep vein thrombosis (DVT).

Causes of Thrombophilia syndrome

There are many chemicals (factors) involved in the clotting mechanism. Some of the factors' specific function is to prevent undue clotting. Others promote clotting. When clot-preventing factors are deficient, the risk of thrombosis is increased.

The factors that are looked for when Thrombophilia syndrome is suspected are:

Protein C
Protein S
Antithrombin III

A deficiency of any of these constitutes a diagnosis of congenital thrombophilia syndrome.

Thrombophilia syndrome is also diagnosed in a case of presence of abnormal antibodies called anticardiolipin and lupus anticoagulant. This is the so-called acquired thrombophilia. These antibodies are also associated with recurrent miscarriage.

Factor V Leiden Mutation and deep Vein thrombosis

Factor V (five) Leiden Mutation is a congenital defect of one of the genes responsible for clotting Factor V. The consequence of this is increased blood coagulability and a tendency to thrombosis.

Factor V Leiden mutation is another variant of the congenital thrombophilia syndrome. It is the commonest hereditary coagulation disorder with up to 1 in 20 (5%) Caucasian individuals carrying the gene mutation. The rate is just over 1% for those of black African ancestry.

Those with one copy of the gene mutation are called ‘heterozygous’ while those where both gene copies have the mutation are called ‘homozygous’. There is increased risk of thrombosis for both groups but the risk is much higher with the homozygous type.

Risks posed by deep vein thrombosis (DVT) in pregnancy

DVT is a painful condition. Untreated, thrombosis in a deep leg (or thigh) vein will destroy the valves in that vein. This makes the vein incompetent in transporting blood back up towards the heart. As a result, the affected person will suffer chronic pain, leg swelling and even ulceration. This is called "post-phlebitic syndrome".

Post-phlebitic syndrome can significantly affect the quality of life (in a negative way) and is a difficult condition to treat.

Having said all that, the more immediate concern is that of Pulmonary Embolism (PE). Pulmonary embolism will occur when a dislodged clot ends up getting stuck in a vein of a smaller caliber in the lungs. This is a serious complication. The rough estimate is that, untreated, pulmonary embolism will kill one in eight of its victims.

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