Hemophilia: Bleeding disorder

What Are Bleeding Disorders?

Bleeding Disorders

Bleeding disorders are rare disorders affecting the way the body controls blood clotting. If your blood does not clot normally, you may experience problems with bleeding too much after an injury or surgery. This health topic will focus on bleeding disorders that are caused by problems with clotting factors, including hemophilia and von Willebrand disease.

Clotting factors, also called coagulation factors, are proteins in the blood that work with small cells, called platelets, to form blood clots. Any problem that affects the function or number of clotting factors or platelets can lead to a bleeding disorder.

A bleeding disorder can be inherited, meaning that you are born with the disorder, or it can be acquired, meaning it develops during your life. Symptoms can include easy bruising, heavy menstrual periods, and nosebleeds that happen often. Your doctor will review your symptoms, risk factors, medical history, and blood test results to diagnose a bleeding disorder.

What causes bleeding disorders?

Your genes, or other causes such as medical conditions or medicines, can cause bleeding disorders. Sometimes a cause may not be known. Any problem that affects the function or number of clotting factors or platelets can lead to a bleeding disorder.

When trying to diagnose a bleeding disorder, your doctor will consider different factors, such as symptoms, risk factors, medical and family history, and various tests. Once the type of bleeding disorder is identified, your medical team will develop a treatment plan.

Genetics: Bleeding disorders can be caused by genes that are passed down from your parents. Your genes provide instructions for how each clotting factor is made. If there is a mutation in the gene, then the clotting factor may be made incorrectly or not at all.

Other causes: Medical conditions, procedures, or medicines can cause bleeding disorders. Some medical conditions and medicines that lead to bleeding disorders cause your body to produce proteins, called antibodies or inhibitors, that can attack clotting factors.

Other medical conditions may cause your body to stop making clotting factors or to make too little of them. Certain medical devices or procedures can also affect clotting factors, as the pumping of blood through the area can affect the amounts of clotting factors.

Types

Acquired bleeding disorders: You may develop a bleeding disorder if something in your body, such as a disease or a medicine, causes your body to stop making blood clotting factors or causes the blood clotting factors to stop working correctly. In addition, problems with your blood vessels can lead to bleeding.

Acquired bleeding disorders include:

  • Disseminated intravascular coagulation (DIC)
  • Liver disease-associated bleeding
  • Vitamin K deficiency bleeding
  • Von Willebrand disease and hemophilia, which are most often inherited but may develop as a result of a medical condition
  • Other, rarer types of acquired bleeding disorders, 
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    which include deficiencies of certain factors, such as factor I, II, and V, that are named for the clotting factor causing the problem
  • Rarely, tangles of blood vessels, called arteriovenous malformations, which can form in the brain or elsewhere in the body and lead to bleeding before birth or later in life

Inherited bleeding disorders: Inherited bleeding disorders include:

  • Combined deficiency of the vitamin K–dependent clotting factors (VKCFDs), which is caused by a problem with clotting factors II, VII, IX, and X
  • Hemophilia A, the most common type of hemophilia, which is caused by a lack of clotting factor VIII or low levels of clotting factor VIII
  • Hemophilia B, which occurs when you are missing clotting factor IX or have low levels of clotting factor IX
  • Hemophilia C, a rare condition also known as factor XI deficiency
  • Von Willebrand disease (VWD), the most common inherited bleeding disorder, which has different types that are numbered based on how common the condition is and how severe the symptoms are
  • Other inherited bleeding disorders, which includes rare bleeding disorders, such as I, II, V, V + VIII, VII, X, XI, or XIII deficiencies, that are named by the clotting factor causing the problem other factor deficiencies
  • Hereditary hemorrhagic telangiectasia, a rare inherited condition caused by tangled blood vessels in different parts of the body, which can lead to bleeding

A diagnosis of your bleeding disorder will depend on your symptoms, risk factors, medical and family history, a physical exam, and blood tests. Once your doctor identifies the type of bleeding disorder, they will work to create a treatment plan that fits your medical needs.

Symptoms

Symptoms may differ depending on the type of bleeding disorder, its cause, and whether the disorder is mild or more serious. Signs and symptoms may be obvious soon after a child is born or not until adulthood. People who have a mild bleeding disorder may not have any signs or symptoms until they are injured or have a medical procedure.

Signs and symptoms of bleeding disorders may include:

  • Blood in urine or stool
  • Excessive bleeding that does not stop with pressure and may start spontaneously, such as with nosebleeds, or bleeding after a cut, dental procedure, or surgery
  • Frequent, large bruises
  • Heavy bleeding after giving birth
  • Heavy menstrual bleeding, which includes menstrual bleeding that often lasts longer than seven days or requires changing sanitary pads or tampons more than every hour
  • Petechiae, or bleeding under the skin causing tiny purple, red, or brown spots
  • Redness, swelling, stiffness, or pain from bleeding into muscles or joints, which is particularly common with inherited hemophilia
  • Umbilical stump bleeding that lasts longer than what is typical for newborns — about 1 to 2 weeks after the umbilical cord is cut — or that does not stop
Diagnosis

To help diagnose a bleeding disorder, your doctor may ask you questions such as these:

  • Do you have blood in your urine or stool?
  • Does your family have a history of bleeding disorders, bleeding events, or blood clots?
  • Do you have a history of miscarriage or postpartum bleeding?
  • Do you have symptoms of other medical conditions associated with bleeding disorders?
  • How long do your menstrual period lasts, and how many sanitary pads or tampons you use per day during your period?
  • How often do you bruise or bleed, and how long does the bleeding last?
  • What prescription or over-the-counter medicines, such as aspirin, do you take?
  • Do your gums often bleed, or do you bleed a lot following dental procedures?

Physical examination: Your doctor will do a physical exam to look for signs of a bleeding disorder, such as bruising or petechiae. Your doctor may also look for signs of medical conditions that can cause bleeding disorders or signs of other medical conditions that can cause similar symptoms. Depending on the reason for your visit, the doctor may look for signs of bleeding-related complications, by looking for swelling and checking your blood pressure, heart rate, and breathing.

Diagnostic tests and procedures: To diagnose a bleeding disorder and whether it may be inherited or acquired, your doctor may order one or more of the following tests.

  • A complete blood count (CBC) measures many different parts of your blood, such as the number of blood cells and platelets. If the number of platelets is too low, you may have a platelet disorder instead of a clotting factor disorder.
  • A partial thromboplastin time (PTT) test, also called an activated PTT (aPTT), measures how long it takes blood to clot. It can help determine whether certain clotting factors are involved.
  • A prothrombin time (PT) test is another test that measures how long it takes blood to clot. It measures clotting factors that the PTT test does not.
  • A mixing test helps determine whether the bleeding disorder is caused by antibodies blocking the function of clotting factors, such as with autoimmune disorders or acquired hemophilia.
  • Von Willebrand factor (vWF) tests measure the amount of von Willebrand factor, whether the factors are working correctly, or which type of VWD you have.
  • Clotting factor tests, also called factor assays or a coagulation panel, helps determine whether certain clotting factors are missing or show up at lower levels than normal, which can indicate the type and severity of the bleeding disorder. For example, if you have very low levels of clotting factor VIII, you may have hemophilia A.
  • A Bethesda test looks for antibodies to factor VIII or IX
  • Factor XIII antigen and activity assays looks for factor XIII deficiency
  • Genetic testing helps determine whether particular genes may be causing the bleeding disorder. Your doctor may refer you or your child to a specialist in genetic testing.

For some bleeding disorders, such as hemophilia, the clotting factor test can tell you how severe the disorder is. Below are possible results from testing for hemophilia A:

  • Severe hemophilia A: <1% of factor VIII detected
  • Moderate hemophilia A: 1% to 5% of normal factor VIII levels
  • Mild hemophilia A: 6% to 50% of normal factor VIII levels

For hemophilia A, the amount of factor VIII is measured and compared to normal amounts. If you have mild hemophilia, you would have 50% or less of the factor VIII levels that a person without a bleeding disorder would have. If you have moderate hemophilia, you would have less than 6% of normal factor VIII levels. If you have severe hemophilia, there would be no detectable levels of factor VIII.

Tests for other medical conditions: Because bleeding can be caused by other medical conditions, your doctor may do tests or procedures to look for conditions that can cause acquired bleeding disorders, such as:

  • A blood test called a liver panel, to measure substances in the blood that depend on liver function
  • A lupus anticoagulant test, to look for signs of lupus
  • A pregnancy test
  • Procedures, such as a pelvic exam, Pap test, ultrasound, or biopsy of the lining of the uterus, to look for signs of disorders that can cause heavy menstrual bleeding

Prenatal screening: If you are diagnosed with a bleeding disorder, your doctor may discuss your risk of passing your condition on to a future child.

Depending on your risk factors, your doctor may recommend screening your baby during your pregnancy using chorionic villus sampling (CVS). During CVS, the doctor threads a thin tube through the vagina to the placenta, where a tissue sample is collected using gentle suction. This test may be offered at 9 to 11 weeks to look for the hemophilia gene among women who are known hemophilia carriers, such as with hemophilia A or B. At a later stage during pregnancy, or after the baby is born, your doctor can do a blood test from the umbilical cord.

Treatment

Treatment for bleeding disorders will vary depending on the type of disorder and may include medicines and factor replacement therapy. Your treatment may be every day to prevent bleeding episodes, or as needed when you plan for surgery or have an accident. You may not need treatment if your bleeding disorder is mild.

Your healthcare team: Bleeding disorders affect many parts of the body, so you will need a team of different doctors for your care. This includes a hematologist, a doctor who specializes in blood disorders. It may also include a specialized nurse, physical therapist, and social worker. You and your healthcare team may develop a treatment plan that is best for you depending on the bleeding disorder.

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Medicines: Medicines to treat bleeding disorders may include:

  • Antifibrinolytic agents, such as tranexamic acid, treat bleeding after childbirth or during procedures such as those involving dental work.
  • Birth control pills are used to treat heavy menstrual bleeding for women with von Willebrand disease.
  • Desmopressin (DDAVP), a human-made hormone, treats minor bleeding in hemophilia or VWD.
  • Immunosuppressive medicines, such as prednisone, help block production of antibodies in acquired bleeding disorders. Side effects can include infections and diabetes.
  • Vitamin K supplements treat vitamin K deficiency bleeding.

Factor replacement therapy: Factor replacement therapy is a type of treatment where clotting factors that are from blood donations or made in a lab are given to replace the missing clotting factor. Your doctor may recommend factor replacement therapy when you experience bleeding or to prevent bleeding from occurring. Treatment with replacement therapy on a regular basis to prevent bleeding is called prophylactic treatment. Prophylactic (preventive) treatment is most often used for severe bleeding disorders.

Factor replacement therapy may include:

  • Bypassing medicines treat antibodies. These medicines add other types of clotting factors to help your blood clot. This treatment can raise the risk of blood clots forming in the blood vessels.
  • Clotting factor concentrates replace the missing clotting factor in inherited bleeding disorders. This treatment can raise the risk of antibodies forming in the blood. Sometimes factor concentrates are used in higher doses to treat bleeding disorders related to antibodies.
  • Fresh frozen plasma, from human blood, provides clotting factors. It is used for bleeding disorders caused when multiple clotting factors are missing, such as liver disease-associated bleeding.

Source: https://www.nhlbi.nih.gov/health/bleeding-disorders

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