Factor V(5) Leiden

Factor V (5) Leiden is the most common, hereditary blood clotting disorder in the United States. It is a disorder that makes a person more at risk for forming a thrombosis that limits blood flow in a vein or artery.

Factor V (5) Leiden is a specific abnormal gene that is passed on to you from one or both of your parents. If you inherit an abnormal gene from only one parent, this is called heterozygous, and the risk for developing a thrombosis is slightly higher than people who do not have any abnormal genes. If you inherit abnormal genes from both parents, called homozygous, the risk of getting a thrombosis is much higher.

What is a thrombosis?

A thrombosis is an abnormal blood clot that has formed inside of any vein or artery and is big enough to prevent good blood flow.  They can be dangerous/deadly if a part breaks off and travels to other areas of the body or completely block blood flow.

What is a blood clot?

A blood clot is a mass of blood cells, platelets and clotting proteins that is normally made by the body after an injury to stop bleeding.  However, blood clots can also form for other reasons such as poor blood flow, taking certain medications, having other medical conditions that have a high risk for the blood to clot and having other risk factors that increase the risk for the blood to clot.  When a blood clot is made abnormally or grows bigger than normal, it causes a problem with blood flow, preventing the transportation of oxygen.

Symptoms

There are no specific symptoms of Factor V (5) Leiden unless you have a thrombosis. The most common spots for a thrombosis is in the legs.  A thrombosis that moves to the lungs is called pulmonary embolism and extremely dangerous.

Symptoms of a deep vein thrombosis include:

  • Cramping pain
  • Redness or discolored skin
  • Swelling
  • Warm of hot to touch

Symptoms of an arterial thrombosis include:

  • Heart attack
    • Chest Pain
    • Shortness of breath
    • Dizziness

Stroke

  • Facial drooping on one side
  • Weakness on one side of body
  • Slurred speech
  • Pain, discoloration (pale or blue) and coldness of arm or leg

Symptoms of Pulmonary Embolism

  • Having a hard time breathing
  • Breathing fast even when resting
  • Cough.  Sometimes coughing up blood
  • Chest pain
  • Pain in the back
  • Pain in the shoulder
  • Feeling weak
  • Paleness or blue color to skin
  • Fast heart beat
  • Sweating, even when resting
  • Feeling light headed

Risk Factors for Thrombosis

Adding additional risk factors along with having Factor V (5) Leiden further increases the risk of getting a thrombosis.  A thrombosis can be dangerous/deadly if a part breaks off and travels to other areas of the body or completely blocks blood flow.

Risk factors for a deep vein thrombosis include:

  • Surgeries
  • Pregnancy
  • Birth control pills
  • Intravenous lines
  • Broken bones
  • Family history (Genetics)
  • Smoking
  • Sitting for long periods
  • Lack of exercise
  • Inflammatory bowel disease
  • Cancer
  • Obesity
  • Infection

Risk factors for an arterial thrombosis include:

  • Hardening of arteries
  • Smoking
  • Poor diet
  • Lack of exercise
  • Obesity
  • High blood pressure
  • High cholesterol
  • Diabetes
  • Alcoholism
  • Strokes
  • Heart attacks
  • Limb damage
  • Damage to organs

Complications

  • Damage to the veins
  • Pain
  • Swelling
  • Ulcer sores
  • Embolism (part of the clot breaking off and moving to lungs, heart or brain)
  • Stroke

Who should be tested for Factor V (5) Leiden?

  • Someone that has had a blood clot
  • Someone that has had a premature stroke or transient ischemic attacks, also called TIA
  • Someone that had multiple miscarriages or stillbirths
  • Someone with a family history of blood clots or thrombophilia

Signs and Symptoms 

There are no specific symptoms of Factor V(5) Leiden unless you have a clot.  The most common sites for a blood clot (thrombus) are in the legs (deep vein thrombosis – DVT) and in the chest (pulmonary embolism – PE).  Problems associated with Factor V(5) Leiden can be extremely unpredictable.  Many people with Factor V(5) Leiden never develop thrombosis, yet some have recurrent clotting before the age of 30.  The diagnosis is suspected in patients with a history of thrombosis and in those with a family history.

Venous (Symptoms usually occur in arms or legs)

  • Cramping pain
  • Redness or discolored skin
  • Swelling
  • Hot to touch

Arterial (Embolism)

  • Heart attack
  • Chest Pain
  • Shortness of breath
  • Dizziness

Stroke

  • Facial drooping on one side
  • Weakness on one side of body
  • Slurred speech
  • Pain, discoloration (pale or blue) and coldness of arm or leg

Signs of pulmonary embolism (a blood clot that has moved into the lungs and has blocked blood flow in an artery)

  • Difficulty breathing
  • Faster heart beat
  • Chest pain that worsens with deep breath
  • Coughing blood
  • Lightheadedness

Diagnosing Factor V(5) Leiden 

They only way to know if you have the Factor V(5) Leiden gene is by a blood test.  This test will determine the presence or absence of the Factor V(5) Leiden gene and distinguishes between the heterozygous (one abnormal gene) and homozygous (two abnormal genes) type. People who need to be tested for Factor V(5) Leiden include:

  • Someone who has had a blood clot
  • Someone who has family members who have had a blood have been diagnosed with Factor V(5) Leiden
  • Someone who has had transient ischemic attacks (TIA’s) or premature stroke
  • Someone who has had repeated miscarriages or stillbirths

Complications

Bleeding can occur anywhere and usually happens after an injury, dental procedures and surgeries.  People diagnosed with hypodysfibrinogenemia do not bleed faster than anyone else, they can bleed longer or can have rebleeding.  Complications from bleeding can include:

  • Getting a blood clot
  • Heart Attack
  • Stroke
  • Embolism