Hemophilia PDF

Hemophilia Prof. Dr. Wesam Ahmed Ibrahim Professor of Internal Medicine gu.edu.eg  Assignment Discuss types and clinical presentation Hemophilia. Overview: Hemophilia is a rare disorder in which the blood doesn't clot in the typical way beca...

Hemophilia Prof. Dr. Wesam Ahmed Ibrahim Professor of Internal Medicine gu.edu.eg  Assignment Discuss types and clinical presentation Hemophilia. Overview: Hemophilia is a rare disorder in which the blood doesn't clot in the typical way because it doesn't have enough blood-clotting proteins (clotting factors). If you have hemophilia, you might bleed for a longer time after an injury than you would if your blood clotted properly. Small cuts usually aren't much of a problem. If you have a severe form of the condition, the main concern is bleeding inside your body, especially in your knees, ankles and elbows. Internal bleeding can damage your organs and tissues and be life-threatening. Hemophilia is almost always a genetic disorder. Treatment includes regular replacement of the specific clotting factor that is reduced. Symptoms ü Signs and symptoms of hemophilia vary, depending on your level of clotting factors. ü If your clotting-factor level is mildly reduced, you might bleed only after surgery or trauma. ü If your deficiency is severe, you can bleed easily for seemingly no reason. Signs and symptoms of spontaneous bleeding include: Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work Many large or deep bruises Unusual bleeding after vaccinations Pain, swelling or tightness in your joints Blood in your urine or stool Nosebleeds without a known cause In infants, unexplained irritability Symptoms and Causes What are hemophilia symptoms? The most significant symptom is unusual or excessive bleeding or bruising. People with hemophilia may develop large bruises after minor injuries. This is a sign of bleeding under their skin. They may bleed for an unusually long time, whether that’s bleeding after surgery, bleeding after dental treatment or simply bleeding from a cut finger. They may start bleeding for no apparent reason, such as sudden bloody noses. How much bruising or bleeding people have depends on whether they have severe, moderate or mild hemophilia: People with severe hemophilia often have spontaneous bleeding or bleeding for no apparent reason. People with moderate hemophilia who have serious injuries may bleed for an unusually long time. People with mild hemophilia may have unusual bleeding, but only after major surgery or injury. Bleeding into the brain: ü A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. ü This rarely happens, but it's one of the most serious complications that can occur. Signs and symptoms include: Painful, prolonged headache Repeated vomiting Sleepiness or lethargy Double vision Sudden weakness Convulsions or seizures Causes ü When a person bleeds, the body typically pools blood cells together to form a clot to stop the bleeding. ü Clotting factors are proteins in the blood that work with cells known as platelets to form clots. ü Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low. Congenital hemophilia Hemophilia is usually inherited, meaning a person is born with the disorder (congenital). Congenital hemophilia is classified by the type of clotting factor that's low. The most common type is hemophilia A, associated with a low level of factor 8 The next most common type is hemophilia B, associated with a low level of factor 9. What are hemophilia types? There are three types of hemophilia: Hemophilia A: This is the most common type of hemophilia. It happens when you don’t have enough clotting factor 8 (factor VIII). The CDC estimates about 10 in 100,000 people have hemophilia A. Hemophilia B: Hemophilia B happens when you don’t have enough clotting factor 9 (factor IX.) The CDC estimates about 3 in 100,000 people in the U.S. have hemophilia B. Hemophilia C: Hemophilia C is also known as factor 11 (factor XI) deficiency. This hemophilia type is very rare, affecting 1 in 100,000 people. Hemophilia inheritance: In the most common types of hemophilia, the faulty gene is located on the X chromosome. Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from the mother and an X chromosome from the father. Males inherit an X chromosome from the mother and a Y chromosome from the father. This means that hemophilia almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are carriers who have no signs or symptoms of hemophilia. But some carriers can have bleeding symptoms if their clotting factors are moderately decreased. Acquired hemophilia ü Some people develop hemophilia with no family history of the disorder. ü This is called acquired hemophilia. ü Acquired hemophilia is a variety of the condition that occurs when a person's immune system attacks clotting factor 8 or 9 in the blood. It can be associated with: Pregnancy Autoimmune conditions Cancer Multiple sclerosis Drug reactions Risk factors: The biggest risk factor for hemophilia is to have family members who also have the disorder. Males are much more likely to have hemophilia than are females. Complications; Complications of hemophilia can include: Deep internal bleeding. Bleeding that occurs in deep muscle can cause the limbs to swell. The swelling can press on nerves and lead to numbness or pain. Depending on where the bleeding occurs, it could be life-threatening. Bleeding into the throat or neck. This can affect a person's ability to breathe. Damage to joints. Internal bleeding can put pressure on the joints, causing severe pain. Left untreated, frequent internal bleeding can cause arthritis or destruction of the joint. Infection. If the clotting factors used to treat hemophilia come from human blood, there's an increased risk of viral infections such as hepatitis C, the risk is low. Adverse reaction to clotting factor treatment. In some people with severe hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins that keep the clotting factors from working, making treatment less effective. Diagnosis and Tests How do healthcare providers diagnose hemophilia? Complete history and physical examination. If you have hemophilia symptoms, the provider will ask about your family’s medical history. The following tests: Complete blood count (CBC): Providers use this test to measure and study blood cells. Prothrombin time (PT) test: Providers use this test to see how quickly your blood clots. Activated partial thromboplastin time test: This is another blood test to time blood clot formation. Specific clotting factor test(s): This blood test show levels of specific clotting factor levels (such as factor 8 and factor 9). What are clotting factor levels? Clotting factors help control bleeding. Healthcare providers categorize hemophilia as being mild, moderate or severe based on the amount of clotting factors in your blood: People who have 5% to 30% of the normal amount of clotting factors in their blood have mild hemophilia. People with 1% to 5% of the normal level of clotting factors have moderate hemophilia. People with less than 1% of the normal clotting factors have severe hemophilia.  Management and Treatment Treat hemophilia by boosting clotting factor levels or replacing missing clotting factors (replacement therapy). In replacement therapy, you receive human plasma concentrates or lab-made (recombinant) clotting factors. In general, only people with severe hemophilia need regular replacement therapy. People with mild or moderate hemophilia who need surgery may receive replacement therapy. They may also receive antifibrinolytics, a medication that keeps blood clots from breaking down.  Management and Treatment Blood factor concentrates are made from donated human blood that’s been treated and screened to reduce the risk of transmitting infectious diseases, such as hepatitis and HIV. People receive replacement factors via intravenous infusion (IV). If you have severe hemophilia and frequent bleeding episodes, your healthcare provider may prescribe prophylactic factor infusions to prevent bleeding. Management and Treatment What are treatment complications? Some people who have replacement therapy develop antibodies, called inhibitors, which attack the clotting factors that control bleeding. Healthcare providers use a technique called immune tolerance induction (ITI). ITI involves clotting factors given on a daily basis to bring down inhibitor levels. ITI may be a long-term treatment, and some people may need this treatment for months or years Thank You gu.edu.eg