What is Thrombophilia?

What is Thrombophilia?


Thrombophilia is not a new disease. This happens when a person develops a form of this unusual blood clotting disease.  It has become more acknowledged in recent years. This is an immune disorder is caused by inheritances. The clots can cause the woman to lose a fetus or cause the baby to be born dead. This scenario happens when the clot or clots interfere with the placenta or the umbilical cord.

 This ailment is very dangerous.  The blood clots can break off and lodge in arteries.  This could cause heart failure, stroke, and in pregnancy, death of the unborn child.  Women who are at risk for thrombophilia are more likely to have complications during pregnancy.  These women have a high occurrence of failures of being able to carry the child to full term.  In most cases this happens in the 2nd and 3rd trimester.  This facilitates the happenings of death of the baby.  Blood clotting is the ability to stop and start clotting as necessary.  When you get cut, it is the blood’s ability to clot that keeps the patient from bleeding to death.  Our bodies must produce the right amount of proteins to avoid complications associated with thrombophilia.   Discoloration and painfulness are signs the patient can look for themselves.  Thrombophilia can be found by special x-ray such as CT scan.  It can also be located by a test called Homan’s sign.  This is done by the doctor.  A DNA test has also been performed to detect the presence of any inherited factor that causes clotting issues.  Any concerns about this disorder should be discussed with your physician.


Are there Risks and Signs of Thrombophilia?

Thrombophilia has an effect on pregnancy in more than one way as well.  Pregnancy causes certain blood vessels to dilate.  One of these is high blood pressure.  Also, slow development of the baby, also premature parting of the placenta.  Some women actually complete their pregnancy without development of thrombophilia.  The most common factor of V Leiden is that it is inherited.  Most women who develop thrombophilia are of European background.  These women are approximately one out of eight.  Usually these women carry at least one characteristic of V Leiden.  There are some women that carry two characteristics of this disease.  Women of other races have least chances of development of V Leiden.  When a genetic material called F5, provides instructions to the genetic makeup this is to enable the blood to clot.  A protein that is called APC, allows Factor V to be sedentary.  This stops the clots from getting too large.  But in patients who have Factor V, there body is unable to stop this event from happening.  In this case the clot remains growing.  This is what causes strange clotting habits.  For women who carry the V factor, there are medicines that affect it gene makeup.  Birth control pills, hormone therapy replacement, are just a couple items that inhibit the V Leiden issue.  There has been a significant increase in this disorder.

One side effect is this disorder can cause early labor and preeclampsia.  Preeclampsia is virtually undetectable.  Some indications may be misunderstood as normal effects of pregnancy.  Thrombophilia can occur as far out as six weeks after childbirth.  Something as simple as blood pressure rising can make doctors look for preeclampsia causing thrombophilia to go unnoticed. Other problems that can develop are swelling in the face, hands, and legs.  This happens because the body is unable to get rid of extra water which in turn causes swelling in different parts of the body.  Weight gain is normal during pregnancy.  But if weight gain is more than just a few pounds, this could be an indicator of preeclampsia.  Vomiting can occur after the first trimester is also a possible sign of preeclampsia. Vision changes are important signs to watch out for. It could be a signal of the brain swelling. Migraine is a sign to look for in this ailment.  Pay attention lower back discomfort and stomach pain.  If any of these indicators are present you need to talk to your doctor as soon as possible.  Pulmonary embolism is another side effect of thrombophilia.  This happens when a blood clot gets into the lungs.  This effect can happen after a cesarean section in women who are overweight.

There are two types of Thrombophilia.  There is inherited and acquired.  Inherited thrombophilia is also known by the name V Leiden factor.  The V Leiden factor is known as deep venous thrombosis.  This is also known as varicose veins. Deep venous thrombosis happens primarily in the legs.  This can also take place in different locations in the flow.  If a clot gets stuck in the lungs, it is called Pulmonary Emboli. This occurs when abnormal levels of certain proteins are present.  An uncharacteristic level of these proteins is that they are too low.  These proteins are called protein S, protein C, and antithrombin III.  A mutation in the genes that occurs is called the V. Leiden gene.  This type of gene is very rare in certain ethnic groups.  These are Spanish, Mexican, and African Americans.   .  This disorder only appears in ten percent of white women.

Acquired Thrombophilia is usually caused when blood clotting agents are over stimulated.  If a piece of the clot dislodges, the outcome can be disastrous.  The clot could enter the circulation system and block an artery.  If this goes to the brain it will cause a stroke, heart attack, and even block proper lung function.

Inherited Thrombophilia is when a family member has had blood clotting problems.  This defect in proteins is handed down from generation to generation.  Although it is inherited some people never have a clotting issue.  Just because it is in a person’s genes, does not mean the person will suffer from the effects of thrombophilia.

Common Causes and signs of Thrombophilia

There are a few medical conditions that will put you at risk for developing thrombophilia.  If you or someone in your family has any one or more, of these health issues, your doctor needs to be aware of it.  Cancer, Lupus, sickle cell anemia, and congenital heart disease increase a person’s risk of developing thrombophilia.  Other things that impact a persons’ risk factor is being confined to a wheelchair or bed ridden, age, overweight, healing from surgery, being a smoker, and birth control.  Even cancer has an effect on blood clotting.  For many people the signs for this disorder are varicose veins.  These are those e pretty purple squiggles appear on the legs.  It has been said that people who have immobility issues could develop this disorder.  Sitting for prolonged amounts of time are common reason to develop thrombophilia.  Another possible sign of having this ailment is when there is loss of feeling in the upper part of the body.  This could be a sign of thoracic outlet syndrome.  This happens when the blood flow is reduced or restricted from the veins in the arms.  Thrombophilia can possibly cause heart palpitations, long term swelling, breathing difficulty, complications of collapse, and heaviness in limbs.

Video of Thrombophilia


In several cases of Thrombophilia, are found in blood tests.  In the cases of Thrombophilia that are not passed down, this can be found by blood tests.  If it is thought to be present, there are blood tests to determine if there are any clotting problems present.  Your doctor will help decide which form of Thrombophilia the patient has.  One treatment for thrombophilia is anti- blood clotting medicine.  This is a blood thinner.  It allows he blood to run easier. Another form of treatment is a regular routine of taking aspirin.  The injection if heparin sodium into muscle s another form of treatment.  There are serious side effects if heparin is an option.  Since this therapy is used to prevent blood clotting, it may cause bleeding problems.  One of the signs is blood in the urine.  Just because the gene is there to cause this disorder does not mean the patient will have clotting issue.  It is important to find out exactly what tests results mean with your doctor.  Your doctor can keep an eye out for any apparent signs that you may develop.  Prevention is a good way to handle the possibility of developing thrombophilia.  Blood tests on the children whose parents have this problem can lead to early detection and treatment. Children with cystic fibrosis are known to have this illness occur. Cystic fibrosis is when inflammation is present in the lungs. The down sides of testing children for thrombophilia is it can be very expensive, there is no immediate benefit from these tests, general doctors may not read the test results properly, and the testing may not be complete or not accurate.  This type of testing should only be performed on those that are at a high risk of having or developing thrombophilia.  Irregularities in genes can be tested.  This type of testing is usually only done in those children who are suspected to have this blood disorder or there is family history of it.  This test also helps design a treatment plan that best suits the patient.  It is best to find a physician who specializes in gene abnormalities.  Treatment can take as long as six months.  There are certain medications that may help those people that suffer from thrombophilia.   Women, who have had prior thrombophilia, are usually treated with blood thinners during and after pregnancy. A high dose of a blood thinner needs to be monitored in order to keep from having other complications.

These particular changes in the way we live should also be considered when dealing with children who are prone to this illness.  Children with other medical condition, such as a malignancy, hemophilia, immune-deficiency, and kidney failure run a higher risk of developing thrombophilia those children who do not of an illness or have a family history of thrombophilia.  Young adolescents who are considering some type of oral pregnancy prevention medicines, and have a family history of thrombophilia, need to consult their doctor before starting this type of medication.  It is known by doctors that the testing for this ailment also experience high levels of stress and anxiety.  These patients also have shown confusion regarding these specialized tests.  There may also be health insurance problems.  There currently is no guarantee that health insurance will cover someone that has been diagnosed with this illness. The insurance companies do not take into account the health benefits of blood testing.  Some people are afraid of the stigmatism that could follow after confirmation of this blood illness.  There is a generalized fear that employers will treat the employee differently or even cause the loss of employment.  Genetic counselors are great resource tool.  They specialize in all types of blood disorders including thrombophilia.  In most cases they are better equipped to answer all concerns related to this illness.  In some cases the counselor may suggest holding off telling the child the results of the blood tests until the child reaches an age where he/she is able to make an informed decision whether the tests should be done or not.  The genetic counselors will discuss each scenario so that the patient will completely understand the results of the tests that were done.  There are a number of guidelines that the counselors have received education on.


The patients’ abnormal gene generation and lifestyle have an influence on the blood clotting process.  If you need help changing your lifestyle to minimize this risk, your doctor is the best resource.  Some options for lifestyle changes are lose weight, stop smoking, and regular discussions with the doctor.  There is a rapid decrease of doctors that specialize in bleeding disorders.  The Center for Disease Control, along with other corporations, is trying to attract physicians to this field of medicine.  There are studies that continue to been done to reduce the risk of this disease.  In the case of being sent to a genetic counselor, the patient, or the parent of a child, diagnosed with thrombophilia needs to use the counselor to their full capacity.

We will be expanding on this important topic in future articles. While I recommend you to register to download an e-book: “Adult Prevention Guide” for better health, a FREE

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The Team Manager Web Diseases


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