Hemophilia.pdf

Hemophilia Dana Matar Jana Nijad Hala Albattikhi Illustration by Smart-Servier Medical Art  Hemophilia Hemophilia is a rare, genetic blood disorder that happens when your blood doesn’t clot and make your bleeding slow down or stop. It happens when people do...

Hemophilia Dana Matar Jana Nijad Hala Albattikhi Illustration by Smart-Servier Medical Art  Hemophilia Hemophilia is a rare, genetic blood disorder that happens when your blood doesn’t clot and make your bleeding slow down or stop. It happens when people don’t have the normal amount of clotting factors. Clotting factors help blood to clot. They work with your platelets to form blood clots that control bleeding. Low clotting factor levels increase bleeding risk.  Three main types of hemophilia Hemophilia A Hemophilia B Hemophilia C This is the most common Christmas disease This type of hemophilia is type of hemophilia. very rare. It happens when you don’t It happens when you don’t It happens when you don’t have enough clothing have enough clothing have enough clothing factor 8 (factor VIII) factor 9 (factor IX) factor 11 (factor XI) Hemophilia may be severe, moderate or mild based on the amount of clotting factor in the blood  Hemophilia A & B X-linked recessive disease The F8 gene provides instructions for making the protein called (factor VIII). The F9 gene provides instructions for making the protein called (factor IX). F9 and F8 genes are present on the X chromosome. Which means in males only one copy of the mutated gene is required to show symptoms unlike females who need two copies to show symptoms therefore males are more affected. Hemophilia C Autosomal recessive disease This is because unlike other genes for hemophilia, which are present on the X chromosome, the F11 gene that is responsible for the synthesis of (factor XI) is present on chromosome 4. To have the symptoms you need to inherit two mutated F11 gene. Females and males inherit the disease equally. Types of mutations:  Intrachromosomal recombination  Transposable element insertion Pedigree Presenting hemophilia C Presenting hemophilia A & B (Autosomal recessive inheritance pattern) (X-linked recessive inheritance pattern) Symptoms Most common symptoms  Prolonged bleeding  Sudden bloody noses (depending on the severity)  Bleeding of the mouth and gums  Oozing after tooth extractions  Bleeding in the urine or stool  Easy bruising  Joint bleeding (hemarthrosis)  Bleeding into the brain Severity of the symptoms depends on the severity of the mutation Hemophilia can be categorized as being mild, moderate or sever based on the amount of clotting factors in your blood. Severity Clotting factor levels Severe hemophilia Less than 1% of the normal clotting factors Moderate hemophilia People with 1% to 5% of the normal clotting factors Mild hemophilia From 5% to 30% of the normal clotting factors Diagnosis Healthcare provider will start by doing a complete history and physical examination. If you have hemophilia symptoms, the provider will ask about your family’s medical history. Children with hemophilia are often diagnosed around 12 to 18 months of age. This is when the child is more active and bruising becomes more apparent, easy bleeding, a tendency to bleed from the nose, mouth, and gums with minor injury.  Providers may do the following tests: Complete blood count Prothrombin time test (CBC) (PT) It is a blood test that measures amounts and sizes of the It is a test that’s measures how fast a blood sample RBCs, hemoglobin, WBCs and platelets. forms a clot. The hemoglobin and the RBCs count of people with A high PT/INR means that the body takes longer than hemophilia can be low normal to form blood clots. Specific clotting factor test Genetic or DNA testing This blood test show levels of specific clotting factor levels, This is done to check for abnormal genes. such as (Factor 8,9 & 11). Such as (Genes F8 F9 & F11) Epidemiology Hemophilia affects patients worldwide. 0-5% of the population in these regions are affected by the disease 6-14% of the population in these regions are affected by the disease 15-30% of the population in these regions are affected by the disease Treatment Currently there is NO CURE for hemophilia Medical treatment The main treatments for hemophilia is called People with hemophilia C may not need treatment Protein Replacement Therapy concentrates of unless they are going to have surgery or certain clotting factor 8 for hemophilia A or clotting dental treatment. When they do, healthcare factor 9 for hemophilia B are slowly drift or providers use a combination of fresh frozen injected into a vein. These infusions help replace plasma from donated blood and medications that the clotting factor that’s missing or low. keeps replacement clotting factors from breaking down. Life enhancement Aim for a Have a good Develop an exercise routine healthy dental weight hygiene  Oral manifestation Patients with hemophilia may show the following symptoms:  Excessive gingival bleeding.  High rate of infections in the oral cavity due to frequent Gingival bleeding bleeding.  Joints bleeds and Orofacial pain: TMJ bleeds leading to joint pain and limited mouth opening. TMJ  Hemophiliacs children was observed to have a better dental health. Infection Dental management Tartar removal As a dentist you need to acknowledge the best dental management by :  Obtaining the patients medical history.  Communicate with hematologists.  Avoid certain pain medications and drugs that can make bleeding worse which include aspirin and ibuprofen (such as Advil ) replacing them by a safer alternatives such as (Tylenol).  Intensive treatments (such as deep cleaning and removal of heavy tartar) should be carried out in hospitals or community dental services.  Use ice packs externally to reduce swelling and bleeding.  Emergency plan for managing significant bleeding including contact information for the patient hematologist and the nearest hospital.  Dental care Maintaining a good oral health is a priority for hemophiliacs, which can be achieved by: Interdental cleaning aid  Regular visits to the dentist are necessary to prevent gum disease and buildup of dental tartare and achieve good oral health (ideally every 6 months).  Brush twice daily with a fluoride toothpaste.  Use a toothbrush with medium texture bristles.  Use interdental cleaning aids.  Limit the consumption of food and drinks with high sugar to avoid caries. Fluoride toothpaste Diagnosis and treatment flowchart Start Patient Diagnosis Prescribe Diagnostic test symptoms confirmed treatment You may preserve on the Regarding the symptoms based on the results of the You can cooperate with a patient the following you may recommend the diagnostic tests it was hematologist to discuss a symptoms: following tests: confirmed that the patient has successful dental hemophilia; management, such as, A. Excessive gingival A. CBC. A. CBC showed low count. avoiding prescribing drugs bleeding. B. PT test. B. PT test showed high PT/ INR. that may interfere with the B. prolonged bleeding C. Specific clotting factors. patients medications. after dental procedures. C. TMJ pain duo to TMJ bleeding. End  Hemophilia recap Causes Genetic mutation in genes (F8,F9 & F11) Symptoms Excessive bleeding, easy bruising, joint pain, gingival bleeding…. Diagnosis Medical history, PT, clotting factor tests, CBC…. Treatment Replacement therapy with clotting factor concentrates, medication… https://youtu.be/XbuQCz3kZI0?si=VrlO0nevJy_i4DbA  Questions Q A patient with hemophilia A is experiencing hemarthrosis (bleeding inside one of our joint). Which intervention should the nurse recommend to the patient? 1. Alternate aspirin to help with the pain. 2. Apply cold packs for 24 to 48 hours to the affected area. 3. Perform active range-of-motion exercise on the extremity. Q Which of the following disorders is a deficiency of factor VIII? 1. Sickle cell disease 2. Christmas disease 3. Hemophilia A 4. Hemophilia B Q Hemophilia A & B mostly affects? MALES ;)  References 1) THOMPSON & THOMPSON GENETICS IN MEDICINE [8th edition] 2) https://youtube.com/watch?v=XbuQCz3kZI0&si=JQz3YcHhNn-IRTw3 3) https://youtu.be/E0KTdOknD-I?si=GjeIfecMiPcRckHG 4) https://sbdmj.lsmuni.lt/144/144-01.pdf 5) https://my.clevelandclinic.org/health/diseases/14083-hemophilia 6) https://health.ucsd.edu/care/blood-disorders/hemophilia-thrombosis/dental- care/#:~:text=For%20patients%20with%20hemophilia%2C%20dental,bleeding%20tendency%20and%20accelerate%20decay