Protein C Deficiency is clotting disorder that occurs when the body does not have enough Protein C.  Protein C is a protein that prevents blood clotting too much (anticoagulant).  When bleeding occurs, the body sends clotting proteins that help to stop bleeding by making a blood clot.  After the area of bleeding has been covered by a blood clot for healing, the clotting proteins need to be stopped so the blood clot does not get too big and restrict blood flow.  Protein C stops the clotting proteins from clotting.  If there is not enough Protein C in the body, the clotting factors may continue working and the blood clot will get too big and blood flow will be restricted.  This is called a thrombosis.

 

Protein C Deficiency is an inherited clotting disorder.  The mutated gene that makes Protein C is passed on from one or both parents.  If one parent passes the gene to their child, it is called heterozygous and the risk for getting a blood clot is slightly higher than someone without an abnormal gene.  If both parents pass an abnormal gene to their child, it is called homozygous and makes the risk for much getting a blood clot higher because both genes are affected.

 

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.

SIGNS AND SYMPTOMS

There are no specific symptoms of Protein C Deficiency 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).  Many people with Protein C Deficiency never develop thrombosis, yet some have recurrent clotting. The diagnosis should be investigated in patients with a history of thrombosis and in those with a family history.

 

Signs and Symptoms of Venous Thrombosis:

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

 

Signs and Symptoms of Arterial Thrombosis:

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

 

Signs and Symptoms of a 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 and 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

DIAGNOSING PROTEIN C DEFICIENCY

The only way to know if you have the Protein C Deficiency is to have your blood tested.  People who need to be tested include:

  • Someone who has had a blood clot
  • Someone who has a family member(s) who have had a blood clot or have been diagnosed with Protein C Deficiency
  • Someone who has had transient ischemic attacks (TIA’s) or premature stroke
  • Someone who has had repeated miscarriages or stillbirths

RISK FACTORS

Adding additional risk factors along with having Protein C Deficiency 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 Venous Thrombosis:

  • 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 Arterial Thrombosis:

  • 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

 

Who should be tested for Protein C Deficiency?

  • 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

COMPLICATIONS

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