What is a Hypercoagulable State?
A hypercoagulable state (HS) or thrombophilia is an acquired or inherited medical condition where the patient has an increased chances of developing a blood clot. There are different types of hypercoagulable states and all have different causes; the common theme among them is that they all increase the patient's chances of developing a clot.
After an injury there occurs normal coagulation, which helps in stopping the bleeding from the injury and helps in healing. Whereas, hypercoagulable state is a condition where there is excessive clotting of the blood when it is circulating through the body.
Types of Hypercoagulable States
There are different types of hypercoagulable states. It can be either inherited or can be acquired later in life.
Inherited Hypercoagulable State comes from the patient's parents where the patient receives one gene from each of the parent. If there is mutation in one of the genes which the patient has received from the parent, then it is known as heterozygous mutation. If there is mutation in both the copies of genes which the patient has received from their parents, then it is known as homozygous mutation. Patients with homozygous mutation, i.e. with 2 mutated genes, are at an increased risk for developing a blood clot when compared to patients with heterozygous mutation (having 1 mutated gene).
Types of Inherited Hypercoagulable State:
Prothrombin Gene Mutation (factor II): Fibrin is a protein which is required for formation of a blood clot. If the patient has very less Factor II, then they bleed excessively. If a patient has increased Factor II, then there are increased chances of formation of irregular blood clots.
Factor V Leiden: This type of Inherited Hypercoagulable State is the commonest type of HS. In this type, there is mutation of the clotting factors known as factor V, which increases the patient's chances of forming an abnormal blood clot.
Increased Homocysteine Levels: This is a type of amino acids which are the building blocks of proteins. If there is breakage of proteins, then it leads to increased levels of amino acids, such as homocysteine; and this is associated with formation of blood clots and atherosclerosis.
Deficiencies of Natural Proteins: If the patient's body lacks natural proteins such as protein C, antithrombin and protein S, which prevent the clotting process, then the blood is more susceptible to formation of irregular clots.
Dysfunctional or Increased Fibrinogen (Factor I): If the patient's body produces insufficient fibrinogen or if the fibrinogen is dysfunctional, then it becomes difficult for formation of clots which causes excessive bleeding.
Types of Acquired Hypercoagulable State
Certain medications which are used for treating cancer, such as bevacizumab, tamoxifen, lenalidomide and thalidomide leads to Acquired Hypercoagulable State.
- Cancer also causes increased clotting.
- Recent surgery or trauma.
- Obesity where the excess weight can cause increased formation of clots; thus Acquired Hypercoagulable State.
- Supplemental estrogen use, such as use of birth control pills.
- Hormone replacement therapy.
- Heart attack.
- Prolonged immobility (bed rest) or sedentary lifestyle.
- Inflammatory bowel syndrome (IBS)
What are the Risk Factors Associated with Hypercoagulable States?
Inherited Risk Factors for Hypercoagulable States
- If a person has heterozygous mutation, then the chances are about 50% for passing the mutation to your children.
- If a person has homozygous mutation, then the chances are 100% of passing the gene to your child. There is nothing to prevent your child from inheriting this gene.
- A person who has inherited mutations, such as having excess of factor II and factor V, is at increased risk for developing a blood clot.
Acquired Risk Factors for Hypercoagulable States
What are the Signs/Symptoms of Hypercoagulable State?
It is not possible to tell whether someone has Hypercoagulable State or not by just looking at them. The major sign or symptom of the patient having a hypercoagulable state is a decreased or increased clotting factor. If the patient has decreased clotting factor, then the primary sign is excessive bleeding (hemorrhaging); where the patient will find it difficult to stop the bleeding after small scrapes or cuts. In such cases, the patient should get tested for Hypercoagulable State.
If the patient has increased clotting factor, then the patient has irregular clotting (thrombosis) where the patient experiences blood clots. There are different signs/symptoms which the patient exhibits depending on the location of the blood clot.
If the patient has deep vein thrombosis, then the following symptoms can be seen:
- Tenderness or pain in the leg which is similar to a cramp.
- Swelling in one leg or arm.
- The leg or the arm is warm to touch.
- There is slight blue or red discoloration of the skin.
Symptoms of Hypercoagulable State if the patient has Pulmonary Embolism include:
- Chest pain which includes sharp and stabbing feeling in the chest.
- Abrupt shortness of breath.
- Unexplained cough, which can be accompanied by blood tinged mucus.
- Fast heart rate (tachycardia).
How is Hypercoagulable State Treated?
Treatment for a hypercoagulable state depends on whether the patient has thrombosis- or hemorrhage -related Hypercoagulable State.
Treatment for a Hemorrhaging State includes:
R.I.C.E. (Rest, Ice, Compression, Elevation): Following these simple steps will stop the bleed and also reduce the pain and swelling.
Desmopressin: This is a man-made hormone which is similar to vasopressin, a natural hormone. Desmopressin helps in stimulating the body to produce more clotting factor VIII. This will help in controlling the bleeding.
Replacement Therapy: Patient is given infusions of concentrated clotting factor which helps in stopping an ongoing bleeding. Infusions of concentrated clotting factor can also be given on a regular basis for preventing bleeding in the patient.
Stopping Use of NSAIDs: Non-steroidal anti-inflammatory drugs act as mild blood thinners and reduce the ability of the blood to clot. Some of the common NSAIDs include ibuprofen and aspirin. Stopping the use of NSAIDs helps in treating and managing the hypercoagulable states.
Blood Transfusions: If the patient has low platelet count or has platelets which do not function properly then doing platelet transfusions helps in combating this problem.
Surgery: If there is accumulation of blood in the joint due to hemorrhage, then surgery may be needed to relieve the pressure and swelling.
Joint Strengthening: It is important that the patient engages in regular exercise and activities which keep the joints strong and help in preventing of bleeds.
Treatment for Thrombosis Related State Includes:
Warfarin: This is a very effective blood thinner, however, it reacts with various diets and medications hence should be used cautiously and on a case-by-case basis. Warfarin is commonly used for long-term treatment; however, patient should be closely monitored by getting regular blood tests when on this medicine.
Heparin or Low Molecular Weight Heparin: Both of these are fast-acting and effective blood thinners which are used for treating excessive clotting. However, there is also a risk of hemorrhaging with these medicines. Patients should be monitored closely when using these medicines so that the bleeding can be prevented on time.