Symptoms
Many people with thrombophilia have no symptoms until a blood clot forms. Symptoms then depend on the location of the clot:
DVT (Deep Vein Thrombosis): Pain, swelling, warmth, and redness in the affected leg (usually the calf or thigh).
PE (Pulmonary Embolism): Shortness of breath, chest pain (often sharp and worse with breathing), rapid heart rate, cough (possibly with blood).
Stroke: Sudden numbness or weakness in the face, arm, or leg (usually on one side of the body), trouble speaking, vision problems, severe headache.
Pregnancy Complications: Recurrent miscarriage, preeclampsia, placental abruption.
Causes
Thrombophilia can be caused by inherited or acquired factors:
Inherited (Genetic):
Factor V Leiden mutation
Prothrombin G20210A mutation
Antithrombin deficiency
Protein C deficiency
Protein S deficiency
Elevated factor VIII levels
Acquired:
Prolonged immobility (e.g., long flights, bed rest)
Surgery or trauma
Pregnancy and postpartum period
Certain medications (e.g., birth control pills, hormone replacement therapy)
Cancer
Autoimmune disorders (e.g., lupus)
Antiphospholipid syndrome
Obesity
Smoking
Medicine Used
The primary medications used to treat and prevent blood clots in people with thrombophilia are anticoagulants (blood thinners):
Heparin: Injectable anticoagulant, often used initially for rapid anticoagulation. Includes unfractionated heparin (UFH) and low-molecular-weight heparin (LMWH) like enoxaparin (Lovenox).
Warfarin (Coumadin): Oral anticoagulant that requires regular monitoring of INR (International Normalized Ratio) to ensure proper dosing.
Direct Oral Anticoagulants (DOACs): Newer oral anticoagulants like rivaroxaban (Xarelto), apixaban (Eliquis), edoxaban (Savaysa), and dabigatran (Pradaxa). They typically don't require routine blood monitoring. The choice of medication depends on the specific type of thrombophilia, the presence of a blood clot, other medical conditions, and individual patient factors.
Is Communicable
Thrombophilia is not communicable. It is not an infectious disease and cannot be spread from person to person through contact, air, or other means. It's either inherited (genetic) or acquired due to other medical conditions or circumstances.
Precautions
If you have thrombophilia, these precautions can help minimize your risk of blood clots:
Stay active: Regular exercise and movement help maintain good circulation.
Avoid prolonged immobility: If you have to sit for long periods (e.g., during travel), get up and walk around every few hours.
Maintain a healthy weight: Obesity increases the risk of blood clots.
Stay hydrated: Dehydration can thicken the blood.
Manage other medical conditions: Control conditions like diabetes, high blood pressure, and high cholesterol.
Talk to your doctor before starting hormone therapy or birth control pills: These medications can increase the risk of blood clots.
Inform your doctor about your thrombophilia: Especially before surgery, pregnancy, or other medical procedures. They may adjust your anticoagulant medication or recommend preventive measures.
Wear compression stockings: Can help improve circulation in the legs, especially during prolonged sitting or standing.
How long does an outbreak last?
Thrombophilia is not an outbreak situation like an infection. It's a predisposing condition. However, if a blood clot forms (DVT/PE), the treatment duration with anticoagulants can vary:
First-time DVT/PE due to a reversible risk factor (e.g., surgery): Typically 3-6 months of anticoagulation.
Unprovoked DVT/PE (no identifiable risk factor): At least 3-6 months, and potentially lifelong anticoagulation.
Thrombophilia with recurrent clots: Often requires lifelong anticoagulation.
How is it diagnosed?
Thrombophilia is diagnosed through a combination of:
Medical History and Physical Exam: The doctor will ask about your personal and family history of blood clots.
Blood Tests: Specific blood tests are used to identify inherited and acquired thrombophilia factors. These tests are typically done after a blood clot event or in individuals with a strong family history. Common tests include:
Factor V Leiden mutation analysis
Prothrombin G20210A mutation analysis
Antithrombin activity
Protein C activity
Protein S activity
Lupus anticoagulant
Anticardiolipin antibodies
Beta-2 glycoprotein I antibodies
Factor VIII level
Imaging studies Imaging studies such as ultrasounds and CT scans may be ordered to diagnose the presence of clots. It's important to note that thrombophilia testing is usually done after a blood clot event and not as a routine screening. Testing can be affected by anticoagulant medications; therefore, the timing of testing in relation to anticoagulant therapy is important.
Timeline of Symptoms
The timeline of symptoms depends entirely on whether a blood clot develops and where it forms:
No Clot: Many individuals with thrombophilia never experience any symptoms.
DVT: Symptoms typically develop gradually over days to weeks.
PE: Symptoms can develop suddenly (acute PE) or gradually (chronic PE).
Stroke: Symptoms develop very rapidly, within minutes.
Pregnancy Complications: The timeline varies depending on the specific complication (e.g., miscarriage may occur early in pregnancy, preeclampsia usually develops later).
Important Considerations
Not everyone with thrombophilia will develop a blood clot. The risk depends on the specific type of thrombophilia, other risk factors, and lifestyle factors.
Pregnancy requires special consideration. Thrombophilia increases the risk of pregnancy complications, and management often involves prophylactic anticoagulation.
Individuals with thrombophilia should be educated about the signs and symptoms of blood clots and when to seek medical attention.
Long-term anticoagulation carries risks such as bleeding. The benefits and risks of anticoagulation should be carefully weighed by the healthcare provider and the patient.
Genetic counseling may be appropriate for individuals with a strong family history of blood clots and thrombophilia.