Coagulation Disorders

Coagulation disorders are disruptions in the body’s ability to control blood clotting. Coagulation disorders can result in either a hemorrhage (too little clotting that causes an increased risk of bleeding) or thrombosis (too much clotting that causes blood clots to obstruct blood flow).These clotting disorders develop due to several conditions.

Coagulation Disorders Treatments

Major causes of coagulation disorders resulting in bleeding include:

• Hemophilia. This condition is a bleeding disorder in which blood does not clot normally. Children with hemophilia have low levels of a clotting factor protein necessary for clotting.
• Von Willebrand disease. This condition takes its name from a clotting factor protein in the blood called von Willebrand factor. This disorder is often genetic (passed down from parent to child) and causes excessive bleeding when von Willebrand factor is low.
• Other clotting factor deficiencies. Low levels of clotting factor proteins other than those leading to hemophilia may also result in bleeding.
• Disseminated intravascular coagulation. This condition causes overactive clotting that obstructs blood vessels.
• Liver Disease. Liver disease comprises a number of conditions in which liver function is impaired.
• Overdevelopment of circulating anticoagulants. This condition causes diminished clotting that creates a condition with symptoms similar to hemophilia.
• Vitamin K deficiency. A deficiency in this vitamin, which is common in breast-fed infants, can impair blood clotting.
• Platelet dysfunction. Platelets are important cells needed to make blood clots. If platelets are too low or if they do not work properly, bruising and bleeding may occur.

Major causes of coagulation disorders resulting in too much clotting include:

• Factor V Leiden. In this genetic disorder, a blood clotting protein called factor V Leiden overreacts causing the blood to clot too often or too much.
• Antithrombin III (ATIII) deficiency. ATIII helps to regulate the bleeding and clotting system. Also a genetic disorder, low levels of ATIII cause the blood to clot too much.
• Protein C or protein S deficiency. Protein C and protein S help to regulate the bleeding and clotting system. Low levels of either protein cause the blood to clot too much.
• Prothrombin (PT) gene mutation. This is also called factor II mutation. PT gene mutation is a genetic disorder. This mutation results in too much clotting factor being made, and too much clotting factor can result in too much clotting.
• Antiphospholipid antibody syndrome. This is an autoimmune disorder resulting in an increase in certain blood proteins that may increase the risk of clotting.

Symptoms of coagulation disorders with difficulty clotting include:

• Blood in the urine or stool
• Bruising easily and excessively
• Extreme fatigue
• An injury that will not stop bleeding
• Joint pain caused by internal bleeding
• Nosebleeds that seem to have no cause
• A painful headache that will not go away
• Prolonged bleeding from ordinary cuts or from surgery or dental work
• Sudden pain, swelling and warmth in joints or muscles
• Vision problems, such as double vision
• Vomiting repeatedly

Symptoms of coagulation disorders with too much clotting include:

1. A blood clot in one of the deep veins of the body (also called deep vein thrombosis or DVT). Symptoms of DVT include:
• Pain in a particular area of the body
• Swelling of an arm or leg
• Redness or color change
• Warmth of the skin
2. A blood clot that has traveled to the lung (called a pulmonary embolism or PE). Symptoms of a PE include:
• Chest pain
• Shortness of breath
• Fast heartbeat
3. A heart attack or stroke at a young age
4. Recurrent pregnancy loss or stillbirth

Diagnosis of Coagulation Disorders

If your child displays symptoms of one of these disorders, his or her doctor will likely order blood tests. These blood tests show the amounts and behaviors of various clotting factors in the blood and can help the doctor make a diagnosis.

If your child displays symptoms of a blood clot, the doctor will likely order imaging with ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI). Imaging may help to see a blood clot.

Another factor that can confirm the diagnosis of one of these disorders is genetic counseling. For the inherited disorders, a genetic test can reveal the mutation that causes a particular disorder. When combined with blood test results, proof of this mutation enables your child’s doctor to make a sound diagnosis.

Doctors suggest a specific treatment plan based on the coagulation disorder that is diagnosed and:

• Your child's age and health
• The severity of the condition
• Your child's tolerance for medicines and treatments
• The likelihood of treatments working
• Your opinions or preferences

There are many different options for the treatment of a coagulation disorder. Treatment for bleeding may include:

• Rest, ice, compression and elevation. These easy but powerful interventions can help stop a bleed and reduce the pain and swelling of a bleed.
• Replacement therapy. Infusions of concentrated clotting factor may be used to help treat a bleed but may also be used regularly to prevent bleeding. Replacement therapy may also be used before surgery and procedures.
• Desmopressin. This medicine is a synthetic hormone similar to the naturally occurring hormone vasopressin. Desmopressin stimulates the body to produce more von Willebrand factor, which helps control bleeding.
• Discontinuing aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs). These are mild blood thinners and can reduce the blood’s ability to clot.
• Surgery. When blood accumulates in a joint, surgery can relieve the swelling caused by the hemorrhage.
• Blood transfusions. If your child has platelets that are low or not working, a platelet transfusion can replace them. If your child has lost a significant amount of blood, a blood infusion can replace it.
• Preventive dental care. Good oral hygiene can help prevent dental work and possible bleeding.
• Subcutaneous immunizations. Giving immunizations under the skin (subcutaneous) rather than into muscle reduces the chance of bleeding in the muscle.
• Joint strengthening. Regular activity and exercise can keep joints strong and prevent bleeds.
• Participation in a clinical trial. Depending on your child’s condition and clinical characteristics, participation in a clinical trial for new medicines or management strategies may be a treatment option.

Treatment for clotting may include:

• Heparin or low molecular weight heparin.This is a relatively fast-acting and effective blood thinner that can be used for excessive clotting, but it can cause excessive bleeding. Your child must be closely monitored to guard against bleeding if this medicine is used.
• Warfarin. Warfarin is an effective blood thinner, but it interacts with a variety of other medicines, so it is used on a case-by-case basis. It increases risk for bleeding.