Thrombophila
Thrombophilia is a condition that makes the patients have an increased tendency to clot. Normally the blood flows throughout the vascular system without clotting.
Thrombophilia is the opposite of Hemophila, in which the patient has a tendency to bleed excessively.
There are two main types of Thrombophilia
1. Inherited Thrombophila
2. Acquired Thrombophilia
In patients with Thrombophila, damage of the placenta happens because of blood clots, in the maternal as well as the fetal vessels.
That leads to impaired placental development has been associated with the following problems.
Miscarriages, growth failure of the fetus, hypertension disorders of the pregnancy, decreased amniotic fluid volume, separation of the placenta, intrauterine fetal demise,
fetal deprivation of oxygen, thrombophlebitis or deep vein thrombosis.
Incidence of inherited thrombophila in women in obstetrical complications
Pre-Eclampsia 53%
Abruptio Placenta 60%
Growth Retardation 50%
Stillborn Babies 42%
Thrombophila is diagnosed by measuring the following parameters.
Genetic thrombophila
-MTHFR gene polymorphism (heterozygous, homozygous or compound heterozygous)
-Prothrombin (factor II) gene polymorphism 20210 (heterozygous or homozygous)
-PAI-1 gene polymorphism (heterozygous (4G/5G) or homozygous (4G/4G)
– ACE (angiotensin converting enzyme) gene mutation (heterozygous or homozygous)
-Protein C deficiency
-Protein S deficiency
-Protein Z deficiency
– Activated protein C (APC) resistance (related or unrelated to factor V)
-Anti-thrombin III deficiency
-Elevated plasminogen activator inhibitor type 1 (PAI-1) {causes hypo-fibrinolysis and inhibits placental growth}
-Elevated lipoprotein (a) (highly thrombogenic, associated with poor pregnancy outcomes)
-Hyper-fibrinogenemia (excessive fibrinogen-the glue that forms the clot)
-Elevated factor VIII
-Elevated factor IX
-Elevated factor XI
-Elevated factor XII
-Elevated factor XIII
-Elevated D-dimer-Elevated thrombin-anti-thrombin complex (TAT) and PTF (1,2)
The treatment of inherited thrombophila requires inhibition of the clotting mechanism (anticoagulation therapy). The treatment of acquired thrombophila may require Prednisone in addition to the anticoagulation therapy in order to inhibit antibody production.