Diagnosis of Hemophilia

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Diagnosis of Hemophilia. Nairobi, Kenya. June 24, 2013. Jim Munn, R.N., M.S. Program Nurse Coordinator University of Michigan HTC Ann Arbor, MI, USA Chair WFH Nursing Committee Acknowledgement : - PowerPoint PPT Presentation

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<p>Slide 1</p> <p>Diagnosis of HemophiliaNairobi, KenyaJune 24, 20131Jim Munn, R.N., M.S.Program Nurse CoordinatorUniversity of Michigan HTCAnn Arbor, MI, USAChair WFH Nursing Committee</p> <p>Acknowledgement: Slides 20,21, 23-28 reproduced with permission from Partners in Bleeding Disorders Education Program www.partnersprn.org</p> <p>ObjectivesDiscuss the history of hemophiliaIllustrate the clotting cascade and how bleeding occursDescribe the two main types of hemophiliaClassify the severities of hemophiliaList common presenting symptoms in patients with hemophiliaExamine the process of diagnosing hemophiliaIdentify common labs used to diagnose hemophilia</p> <p>Early ObservationsIf a woman had her first son circumcised and he died as a result of the circumcision, which enfeebled his strength, and she similarly had her second [son] circumcised and he died as a result of the circumcision - whether [the latter child] was from her first husband or her second husband - the third son may not be circumcised at the proper time [on the eighth day of life]2</p> <p>Twelfth Century Physician and Talmudist Maimonides states in the Mishneh Torah1</p> <p>1. Rosner F. Moses Maimonides. Ann Intern Med. 1965;372:1135-1204.2. Mishneh Torah, Hilkhot Milah. 1:18.</p> <p>Early Observations1803: John Conrad OttoProvided first accurate account of hemophilia in the modern medical literature His investigation of bleeders was published in a New York journal under the title, An Account of an Hemorrhagic Disposition Existing in Certain FamiliesTraced to woman who settled in Plymouth, New Hampshire in 1720</p> <p>Otto JC. The Medical Repository. 1803;Vol VI (No 1):1-4.</p> <p>Early Observations1820: Nasse of BonnGerman physician 1778-1851Formulated observations on inheritance of hemophiliaNasses Law: Transmitted by unaffected females to their sons</p> <p>Nasse CF. Arch Med Erfahr. 1(1820):385.Early Observations1828: The word hemophilia first appears in a description of inherited bleeding disorders by Physician Frederick Hopff at the University of Zurich</p> <p>1840: First recorded case of hemophilia treatment by transfusion written by Samuel Lane in The Lancet 1 </p> <p>1893: First documentation of abnormal prolongation of coagulation in capillary tube in hemophilics2 </p> <p>1. Farr AD. J Royal Soc Med. April 1981;74(4):301-305.2. Wright AE. Br Med J. 1893;2:223-225.The royal disease: queen victoria family tree</p> <p>The Coagulation SystemFibrinolysisCoagulation inhibitors ProcoagulantsPlateletEndothelialCellThe Clotting cascadeIntrinsic pathway (I.P.)Extrinsic pathway (E.P.)XIIXIIXXVIIProthrombin (II)ThrombinFibrinogenFibrinCLOT FORMATIONVIIIVXIIIHow does Clotting occur?</p> <p>What is Hemophilia?Rare, genetic conditionGene located on the X chromosomeResults in bleeding manifestations in affected individualsPresent at birth and continues throughout lifeDecreased amount or impaired functioning of one of the plasma proteinsUsually factor VIII (eight) or IX (nine)Factor levels usually do not change over time</p> <p>Why do people with hemophilia bleed longer?In hemophilia, one clotting factor is missing, or the level of that factor is low. It is difficult for the blood to form a clot, so bleeding continues longer than usual (not faster). </p> <p>Types of HemophiliaHem A/Factor VIII </p> <p>Hem B/Factor IX</p> <p>Hem C/Factor XI</p> <p> 1:5,000 males 80-85%</p> <p> 1:25,000 males 15-20%Types Prevalence % of Cases All types:Affect all racesWorldwide distributionSeverity of HemophiliaLow levels of factor VIII (eight) = hemophilia A. Low levels of factor IX (nine) = hemophilia B. Hemophilia A and B can be mild, moderate, or severe, depending on the level of clotting factor.</p> <p>Severity of symptoms often corresponds to factor level</p> <p>Common presenting symptoms in hemophiliaBleeding at circumcisionMouth bleeds in young childrenExcessive bruising, hematomas especially in areas not subjected to bumps and scrapesHead bleeding related to birth traumaJoint bleedingMuscle bleedingBleeding after surgery, dental work, or traumaIn severe hemophilia, bleeding can be spontaneousDiagnosing Hemophilia: History and PhysicalAccurate and detailed history with assessment of bleeding episodes and trauma in individuals with bleeding disorders is essential for determining appropriate careUse age-appropriate approachGet a patient and family historyStart general (ROS), get specificHistory and assessment may be as, or more, important as labs/imagingListen to the patient and familyThe process is continuous from first notification of event to follow-up</p> <p>The 7 History and Assessment QuestionsWhat are the symptoms?How long have the symptoms been present?What treatment was given, and when?Did an injury happen before the symptoms started?Did a similar problem occur in the past?How was that problem treated?Did that treatment resolve the issue?</p> <p>Laboratory EvaluationLaboratory evaluation is guided by thorough history &amp; physical examinationClinical impression is critical to determine: Extent of evaluationPhase of coagulation most likely abnormalNeed for repeated evaluations</p> <p>Laboratory Evaluation: Guided by SymptomsPetechiaeAbnormal bruisingMucocutaneous bleeding Abnormal platelet number or functionDeep tissue, muscle, joint bleedingAbnormal bruisingBleeding with injury, surgeryAbnormal procoagulantsDelayed bleedingAbnormal fibrinolysis</p> <p>The Clotting cascade: PT AND APTTIntrinsic pathway (I.P.)Extrinsic pathway (E.P.)XIIXIIXXVIIProthrombin (II)ThrombinFibrinogenFibrinCLOT FORMATIONVIIIVXIIIAPTTPTLaboratory Evaluation: APTTActivated partial thromboplastin time (aPTT)Non-specific test of intrinsic systemaPTT screens for abnormality in factors VIII, IX, XI, XIIActivated Partial Thromboplastin Time. Virginia Commonwealth University, 2005. http://www.pathology.vcu.edu/clinical/coag/aPTT.pdf.Laboratory Evaluation of Hemostasis. Virginia Commonwealth University, no date. http://www.pathology.vcu.edu/clinical/coag/Lab%20Hemostasis.pdf.Laboratory Evaluation: PTProthrombin time (PT)Tests efficiency of extrinsic systemPT sole abnormality factor VIIAbnormality of PT may be due to deficiency in factors VII, X, VSomewhat useful for detecting changes in factors II (prothrombin) and I (fibrinogen)Laboratory Evaluation of Hemostasis. Virginia Commonwealth University, no date. http://www.pathology.vcu.edu/clinical/coag/Lab%20Hemostasis.pdfLaboratory Evaluation: Prolonged PT and apttCommon pathwayBoth PT &amp; aPTT prolongedMay be due to deficiency in factors X, V, II, I (fibrinogen)May also indicate vitamin K deficiency: factors II, VII, IX, X </p> <p>Laboratory Evaluation of Hemostasis. Virginia Commonwealth University, no date. http://www.pathology.vcu.edu/clinical/coag/Lab%20Hemostasis.pdfMixing StudyProlonged coagulation screening tests such as PT &amp; aPTT should first be followed by a mixing study Mixing study consists of mixing equal parts the patients plasma with a known normal plasmaCoagulation test is then repeatedCorrection of the test to the normal range = Factor deficiencyLack of correction of the test to the normal range = Inhibitor</p> <p>Partial Thromboplastin Time Mixing Study. University of Alabama at Birmingham Coagulation Service, no date. http://peir.path.uab.edu/coag/article_101.shtm</p> <p>Mixed withnormal plasma</p> <p>aPTT corrects =Factor deficiency</p> <p>Patient with prolonged aPTT+</p> <p>Mixed withnormal plasma</p> <p>aPTT does not correct orre-prolongs with incubation = Inhibitor</p> <p>Patient with prolonged aPTT+Specific Factor AssaysFactor VIII levelFactor IX levelMay need repeat testing as factor IX levels are typically low at birth due to immature liver (vitamin K-dependent protein)Cord blood sampling can be doneExposure to blood products for treatment can falsely elevate factor levelsSummaryHemophilia has been around as long as people have been around.Hemophilia is not a Royal Disease.Symptoms typically appear earlier in life in severe disease.Clotting involves a complex series of reactions between a number of components.The diagnosis of hemophilia requires a coordinated approach.Careful history and physical should precede any laboratory investigations.Labs may need to be repeated.ADDitional WFH resourcesDiagnosis of Hemophilia and Other Bleeding Disorders: A Laboratory ManualGuidelines for the Management of Hemophilia, 2nd edition, Section 3. Visit the Publications Library at www.wfh.org/publications for free copies</p>

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