Overview & Definition
Clotting disorders (Thrombophilia) cause the blood to clot excessively inside blood vessels, leading to dangerous blockages in the legs (DVT), lungs (PE), or brain (Stroke).
Types & Classification
- Deep Vein Thrombosis (DVT)
- Pulmonary Embolism (PE)
- Factor V Leiden Mutation
- Prothrombin G20210A Mutation
- Protein C, Protein S & Antithrombin III Deficiency
Underlying Causes & Risk Factors
- Genetic hypercoagulable mutations
- Prolonged immobility or long-distance travel
- Cancer & chemotherapy treatments
- Major surgery or trauma
- Pregnancy & oral contraceptive use
Common Symptoms & Warning Signs
Diagnostic Evaluation
Accurate diagnosis requires comprehensive laboratory investigation under expert hematological supervision:
- 🔍 D-Dimer Blood Test
- 🔍 Venous Doppler Ultrasound of lower limbs
- 🔍 CT Pulmonary Angiogram (CTPA)
- 🔍 Thrombophilia Panel (Factor V, Protein C/S, Antithrombin, APS antibodies)
Treatment Options & Clinical Management
- 💊 Immediate Parenteral Anticoagulation (Low Molecular Weight Heparin / Unfractionated Heparin)
- 💊 Direct Oral Anticoagulants (DOACs: Apixaban, Rivaroxaban, Dabigatran) or Warfarin
- 💊 Thrombolytic Therapy (Alteplase) – reserved for massive PE with hemodynamic instability or severe limb-threatening DVT
- 💊 Inferior Vena Cava (IVC) Filter Placement – reserved for acute DVT/PE patients with absolute contraindications to anticoagulation
- 💊 Long-Term Secondary Thromboprophylaxis & Risk Factor Modification
Frequently Asked Questions
Early signs of Deep Vein Thrombosis (DVT) include swelling, throbbing pain, tenderness, and redness in one leg (usually calf or thigh). Early signs of Pulmonary Embolism (PE) include sudden shortness of breath, sharp chest pain when breathing, coughing up blood, or rapid heartbeat.
Diagnosis involves quantitative D-dimer blood testing, lower limb venous duplex Doppler ultrasound, CT pulmonary angiography (CTPA) for suspected PE, and specialized thrombophilia screening panels (Factor V Leiden, Prothrombin G20210A, Protein C/S, Antithrombin, and Antiphospholipid antibodies).