Oren Zarif – Inherited Thrombophilia Symptoms

Blood clots (thromboses) are a normal part of blood flow but when they don’t dissolve or if you tend to form them you may have a condition called thrombophilia. It can be genetic (inherited) or acquired later in life.

Some types of thrombophilia increase the risk of pregnancy problems such as high blood pressure in early pregnancy (preeclampsia) or reduced fetal growth and sometimes even miscarriage.

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Blood clots can block blood vessels and cut off oxygen to your tissues or organs. These clots are called thrombosis. They can happen in your arteries or veins. This article focuses on clots that occur in your veins, which is a condition called venous thromboembolism (VTE). Your risk of VTE is higher when you have a condition that causes your blood to clot more easily. Some of these conditions are genetic. Examples include factor V Leiden mutation and prothrombin G20210A gene mutation (also known as the factor II mutation).

These genetic changes can make your blood clot more often or keep temporary clots from breaking apart. They can also increase your risk of a serious complication of DVT, called pulmonary embolism.

Your doctor may suspect you have inherited thrombophilia if you have a DVT or have other symptoms of inherited thrombophilia, like having several blood clots in your legs before age 40 or a family history of blood clots or venous thromboembolism. You are also at increased risk of venous thromboembolism during certain high-risk situations, such as surgery or long periods of immobility or pregnancy.

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Arterial thrombosis is blood clots that form in the arteries, which are the blood vessels that carry oxygen-filled blood to your body’s organs. They can block blood flow to parts of your body like the heart and lungs, causing tissue damage or even death (acute arterial thrombosis).

The most common cause of arterial thrombosis is an inherited condition called hypercoagulation. Some genes code for proteins that help your blood clot or prevent blood clots from forming. If you have a change (mutation) in one of these genes, your blood may clot more easily than it should.

You can also develop arterial thrombosis after you have other diseases or illnesses that make your blood more likely to clot, such as atrial fibrillation, cancer, or heart disease. Acquired thrombophilia is another cause of arterial thrombosis. It occurs when your liver, kidneys, or other organs don’t make or clear away clotting proteins as well as they should. It’s often seen in people who are hospitalized or on bed rest, such as patients with cancer, or in pregnant women.

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Some people develop blood clots in the lining of their large intestine (mesenteric veins). These clots can cause pain, nausea, vomiting, and a numb or tingling feeling. Symptoms may come and go over several days or weeks.

Most of the time, these clots happen because you have inherited (genetic) thrombophilia. This type of thrombophilia causes certain proteins to work differently than they should. These clot-forming proteins are called coagulation factors.

If you have inherited thrombophilia, you can pass it on to your children. This can increase their risk of getting blood clots when they are adults.

Acquired thrombophilia happens because your liver or kidney doesn’t make or clear clotting proteins correctly. It can also happen if you’re on bed rest because of surgery or because of a serious illness like cancer. You can also get it if you have an autoimmune disorder such as systemic lupus erythematosus. This autoimmune condition makes your antibodies attack phospholipids, which help keep your blood at the right consistency. The most common acquired form of thrombophilia is antiphospholipid antibody syndrome.

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Normally, your blood forms clots when you cut yourself or get a deep vein thrombosis (DVT). But if you have a condition called thrombophilia, you are more likely to get these clogs in the large blood vessels that carry oxygen to your body.

A blood clot in these blood vessels cuts off the supply of oxygen to your organs. That can lead to problems like pulmonary embolism (blood clot in your lungs) or a heart attack. The condition is mainly caused by abnormal clotting factors in your blood. There are two types of thrombophilia: genetic (inherited) and acquired. Acquired thrombophilia can happen from medicines, your lifestyle or diseases.

Genetic thrombophilia is passed on by one or both of your parents. The most common form is factor V Leiden mutation, which affects about 1 in 20 people of European descent. Other genetic forms include prothrombin G20210A gene mutation and antithrombin deficiency.

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Blood vessels carry oxygen to your cells, so clogged blood vessels can hurt your major organs. Clots that form in veins (DVT) can also lead to a blood clot in your lung or a pulmonary embolism, which is more serious and can be life-threatening. Blood clots are usually treated with medicine called anticoagulant or blood thinners.

Your body forms blood clots to stop bleeding when you are injured. But sometimes you may have too many blood clots, which increases your risk of VTEs. You usually find out that you have thrombophilia when you have symptoms such as a DVT or PE.

Some types of thrombophilia are genetic, such as factor V Leiden thrombophilia, prothrombin 20210A mutation and Protein C deficiency. You can also have acquired thrombophilia, which you get from your lifestyle or medicines.

Some people who have thrombophilia never develop blood clots. To help protect yourself, tell your doctor about your family history of clots and other health problems. Your doctor will take a detailed medical history and ask about recent VTE events.