Thrombophilias are a group of blood clotting disorders that can either be inherited or acquired.
Blood clotting or coagulation is a complicated but necessary body mechanism. Several steps occur, in a specific order, when an injury occurs to form a clot. Without the mechanism, a simple nick on the leg with a razor could kill an individual. Perhaps you’ve heard of Hemophilia. An individual with hemophilia is lacking the ability to perform normal blood clot formation.
On the other side of the spectrum, Thrombophilias are disorders that can cause blood clots to form when they shouldn’t. Blood clots can form in blood vessels, decreasing or stopping blood flow. Blood clot formation is also dangerous because it can break away from its forming site and travel to the lungs and/or brain.
Thrombophilias are a particular concern during pregnancy due to the changes that take place in the body. The likelihood of dangerous blood clot formation is increased during this time. The danger with blood clot formation during pregnancy is not only the threat to the mother but also the fact that a blood clot can form in the blood vessel leading to the placenta, restricting or completely stopping blood flow to the fetus.
As previously stated, there are two types of thrombophilias: inherited (born with) and acquired. Each type of thrombophilia has several different presentation. Each type is named/described by the protein or “factor” that is abnormal.
Factor V Leiden (Most common)
Protein C Deficiency
Protein S Deficiency
MTHFR is considered one of the thrombophilias because it is a blood-based disease that may cause blood clots. MTHFR is a genetic defect with several known mutations. Many persons with MTHFR are unable to metabolize folic acid.
Acquired thrombophilias are blood clotting disorders that develop after injuries or other medical conditions.
Antiphospholipid antibody syndrome (APS)
Heparin-induced thrombocytopenia (HIT)
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Inherited and acquired thrombophilias usually have no symptoms unless there is an active blood clot. Symptoms of a blood clot are pain, tenderness, swelling, and discoloration usually in an extremity. Any time a blood clot is suspected, you should never rub the area as doing so could dislodge the blood clot if it exists there.
Both types of thrombophilias have been shown to have the potential for complications with pregnancies. Such complications include preterm labor, miscarriage, and poor fetal growth.
Thrombophilias are diagnosed by blood test. The result informs the physician which type of thrombophilia is present.
Treatment for Thrombophilias
Treatment for Thrombophilias depends on the type. A person lacking a specific clotting “factor” can be supplemented with that specific “factor.” Others can be treated with oral anti-coagulants to decrease the chances of a blood clot. Regardless of the type, pregnancies will need to be monitored more closely. Many women with a Thrombophilia go on to have normal pregnancies.
There is still much left to be learned in regards to thrombophilias. What is known is that many people are carriers for a thrombophilia and never have any difficulties. Women who have a family history of blood clotting disorders, multiple miscarriages, or a history of a blood clot are typically advised to be tested for a blood clotting disorder.
Questions about thrombophilias or any other question regarding your health should be directed towards your healthcare provider.