Inherited Thrombophilias (Blood disorders)
The thrombophilias are a group of disorders that promote blood clotting. Individuals with a thrombophilia tend to form blood clots too easily, either because their bodies make too much of certain proteins, called blood clotting factors, or too little of anti-clotting proteins that limit clot formation. As many as 1 in 5 people in this country has a thrombophilia.
Most people with a thrombophila do not know they have it because they have no symptoms. However, some will develop a blood clot where it does not belong. Often, blood clots form in the lower leg, causing swelling, redness and discomfort. This condition, called deep vein thrombosis, is often diagnosed with ultrasound or other imaging tests.
Pregnancy is another time when signs of thrombophilia are more common. Most women with a thrombophilia have healthy pregnancies.
The thrombophilias also may cause a severe form of pre-eclampsia, a pregnancy-related disorder that can pose serious risks for mother and baby which is characterized by high blood pressure and protein in the urine.
Most of these problems are believed to result from blood clots in placental blood vessels that lead to placenta changes and reduced blood flow to the fetus.
The major gene mutations that lead to Inherited Thrombophilias are:
- Factor V Leiden
- Protein C deficiency
- Protein S deficiency
- Antithrombin III deficiency
- Methylene-tetrahydrofolate reductase MTHFR C677T, leading to hyperhomocytseinemia
- G20210A prothrombin gene mutation
Treatment of Inherited Thrombophilias
If you have any of the above blood disorders, I will offer you a combination of low-dose aspirin plus low molecular weight heparin injections. This will dramatically reduce the risk of miscarriage and gives you an excellent chance of a successful outcome
The therapy may need to be started before pregnancy occurs, and continued four to six weeks after birth.
If your results revealed that you are a carrier of MTHFR gene mutation, I will offer you Folic acid supplementation 800mcg/day.