Thrombophilia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Thrombophilia
Ultrasound image of a deep vein thrombosis
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Deep vein thrombosis, pulmonary embolism, recurrent miscarriage
Complications	Stroke, myocardial infarction, pulmonary embolism
Onset	Varies, often in adulthood
Duration	Chronic
Types	N/A
Causes	Genetic and acquired factors
Risks	Family history, surgery, immobility, pregnancy, oral contraceptives
Diagnosis	Blood test, genetic testing
Differential diagnosis	Antiphospholipid syndrome, protein C deficiency, protein S deficiency, antithrombin deficiency
Prevention	N/A
Treatment	Anticoagulants, compression stockings, lifestyle modification
Medication	N/A
Prognosis	Variable, depends on severity and management
Frequency	Common, varies by population
Deaths	N/A

Thrombophilia

Thrombophilia is a medical condition characterized by an increased tendency to form abnormal and potentially harmful blood clots (thrombi) in blood vessels. People with thrombophilia are at a higher risk of thrombosis, leading to serious health complications.

Microscopic view of a blood clot, indicative of thrombophilia

Introduction

Thrombophilia can be either inherited or acquired. This condition increases the risk of developing thromboses in veins, arteries, or both.

Causes

Several factors can contribute to thrombophilia, including:

• Thrombotic thrombocytopenic purpura: A rare blood disorder causing small blood clots to form in the body.
• Disseminated intravascular coagulation (DIC): A condition leading to the formation of blood clots throughout the body's small blood vessels.
• Bone marrow disorders: Conditions that affect the blood cells produced in the bone marrow.
• Antiphospholipid antibody syndrome: An autoimmune disorder causing an increased risk of blood clots.

Types of Thrombophilia

Thrombophilia can be categorized into two main types:

• Inherited Thrombophilia: Caused by genetic mutations, such as Factor V Leiden or prothrombin gene mutation.
• Acquired Thrombophilia: Develops due to other medical conditions, certain medications, or lifestyle factors.

Symptoms and Diagnosis

While many individuals with thrombophilia may not exhibit symptoms, potential signs include:

• Swelling, pain, and redness in affected limbs.
• Recurrent blood clots, especially in unusual locations.

Diagnosis is typically made through blood tests, family and personal medical history, and imaging studies if necessary.

Treatment and Management

Management of thrombophilia focuses on preventing thrombosis and treating existing clots. This may include:

• Anticoagulant medications.
• Lifestyle changes, such as increased physical activity and dietary adjustments.
• Regular monitoring and medical follow-up.

External Links

• American Society of Hematology: Blood Clots
• Centers for Disease Control and Prevention: Deep Vein Thrombosis

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