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26 years
I had preeclimpsia,while i was pregnant, and by x- section, and the baby death, due to plecenta repture. Knowing that These tests done after 40 days. So is there any risk, thanks a lot. For your help
Aug 9, 2014

Dr. Rania Mousa General Medicine
Thrombophilia is a condition where the blood has an increased tendency to form clots. Blood clots can cause problems such as deep vein thrombosis (DVT) or pulmonary embolism. There are different types of thrombophilia - some are inherited and some are acquired, meaning they usually develop in adult life. Often thrombophilia is mild, and many people with thrombophilia do not have problems from their condition. Blood tests can diagnose the problem. Thrombophilia does not always require treatment but some people need to take aspirin or warfarin. If you have thrombophilia, be aware of the symptoms of a blood clot and get treatment immediately if you have symptoms.

Inherited thrombophilia has been implicated in pregnancy complications, such as recurrent miscarriage and fetal death, analogous to the clinical manifestations that are part of the antiphospholipid syndrome .

The association between hereditary thrombophilia varies depending on type of thrombophilia and timing of pregnancy failure , and there is a modest association also between thrombophilia and other adverse pregnancy outcomes, most notably preeclampsia and intra-uterine growth retardation .

However, whether this association can be considered causal remains controversial, as many other factors play a role in the risk of pregnancy complications .
Observational research is hampered by severe methodological flaws or inconsistent results.

The Prothrombin G20210A factor ii mutation is the second-most common cause of inherited thrombosis and results in elevated levels of prothrombin which mildly increases the risk of thrombosis. An increased risk of cerebral vein thromboses and of myocardial infarctions in women less than 50 years of age may also be associated with this mutation, especially in conjunction with other environmental risk factors. The G20210A mutation results in approximately 30% higher levels of prothrombin, which can cause a mild hypercoagulable condition associated with deep vein thrombosis.

Heterozygosity for the G20210A mutation results in a 3 to 10-fold higher risk of thrombosis.
Plasminogen activator inhibitor-1 (PAI-1) plays a critical role in blood coagulation.
The MTHFR C677T mutation lowers the levels of the functional enzyme MTHFR resulting in higher levels of homocysteine. Hyperhomocysteinemia is associated with an increased risk of arterial and venous thrombosis.

Thrombophilia may increase the chance of problems in pregnancy. Your doctor can advise - it will depend on the type of thrombophilia and also varies between individuals. However, many women with thrombophilia do have successful pregnancies.
Therapeutic options to prevent pregnancy complications in women with thrombophilia comprise aspirin as well as (low-molecular-weight) heparin.

For some asymptomatic women at fertile age who come from families with a tendency for VTE and a known thrombophilic defect, a positive test may lead to the decision to install prophylaxis during or postpartum in case of pregnancy, or the individual decision to not use oral contraceptives.

So it is important to re check with your doctor ,take the test results interpreted more detailed by a hematologist beside your gynecologist to diagnose based on your history and findings and to put a plan for your coming pregnancy and the whole outlook and advices .
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Dr. Zakia Dimassi Pediatrics
I apologize for my previous incomplete answer as I had technical problems.
technical problem.
In order for you to understand the meaning of homozygous vs heterozygous mutations, you need to 1st understand how genes are expressed. Every gene in our genetic pool is found in pairs, called alleles, in a particular chromosome. If one of these 2 alleles, it's called a heterozygous mutation; if both are mutated then it's a homozygous mutation. Mutated genes produce proteins that don't function properly (too much or too little).
PAI and HPA-I heterozygous mutations affect the function of the platelets (the structures that look like small cells and are responsible for blood clotting) thus increasing the risk of formation of blood clots in your circulation. Factor II, as I explained before, is one of the important proteins in the blood clotting cascade (please refer to my previous answer) and its mutation puts you at risk for blood clotting. The clots that form in your blood can go to the placenta which will become full of those blood clots and cannot deliver blood and nutrients to the fetus, resulting in the placenta to rupture &the fetus to die. Now because you have heterozygous mutations in these proteins, the risk usually doesn't go beyond 30%.
MTHFR heterozygous mutation also predisposes to blood clotting but I wouldn't worry too much about it because studies have shown it to be very common in the Lebanese population &is usually inconsequential.
ACE is an enzyme in the kidney that transforms one hormone (angiotensin) to another form; if mutated it causes hypertension (High blood pressure). ApoE is found in the liver &helps convert bad cholesterol to good cholesterol; mutations in ApoE predispose to formation of cholesterol plaques in the blood vessels that may also cause clots that travel to the placenta and block it. Your ACE D/D means you're predisposed to high bblood pressure, your ApoE E3/E3 is normal. These 2 were tested for to explain the pre-eclampsia.
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