coagulation disorders
DESCRIPTION
coagulationTRANSCRIPT
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Coagulation DisordersCorrina Mc Mahon
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Laboratory investigationsPT: VII, X, V
APTT; XII, XI, IX, VIII
TT; Fibrinogen
D dimers; fibrin breakdown
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Case 14 yr old boyURTI 2 weeks agoSudden onset bruising/petechiaePH: NilFH: NilPhysical examination:
- InvestigationsFBC: Hb 11g/dl; WCC 8x10^/l; Platelets
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Congenital ThrombocytopeniaDysfunctional plateletsBernard SoulierGrey platelet syndromeWiskott-Aldrich syndrome
Normal Platelet functionMay-HegglinTAR
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Case 2Newborn infantIntracranial HaemorrhageNo dysmorphic features1st childNo liver/spleen palpableFBCHb 18.5g/dlWCC 10 x x 109/l /lPlatelets 10 x 109/l /l
Coagulation screenPT 15 sec. (13-16)APTT 41 sec (28-36)
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Differential diagnosisInfectionDICImmune ThrombocytopeniaAlloimmuneIsoimmuneCongenital ThrombocytopeniaTAR syndromeWiscott Aldrich SyndromeVon Willebrands diseaseType 2BA-V malformations
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Alloimmune ThrombocytopeniaIncidence 1:1000-5000 birthsIgG antibodiesHPA1a 80% HPA5b 15%50% occur in 1st pregnancyBleeding can be in utero or after birth
TreatmentPlateletsIVIg?Steroids
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Isoimmune Thrombocytopenia Maternal anti-platelet IgGPlacental PassageThrombocytopenia nadir ~5days post-partumHistory & examination of motherTreatmentIvIg steroids
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Disseminated Intravascular CoagulopathyInfection
Symptoms and SignsPetechiaeBruisingBleeding
Laboratory resultsAnaemiaThrombocytopeniaPT/ APTT/Fibrinogen/ d dimers
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HaemophilaInherited Bleeding Disorder
Factor VIII/FIX deficiency
X-Linked InheritanceCarrier XX may have low levels
Spontaneous mutation
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Inheritance of Haemophilia
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Life Expectancy In Haemophilia
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Bleeding problems in HaemophiliaFactor LevelType of Bleed5%Trauma/Surgery
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Intracranial BleedsAt BirthInjury
AdmissionFactor ConcentrateScanningObservationNeurosurgery
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Forearm Bleed
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Joint bleedSynovial inflammation and hyperaemiaSynovial overgrowth and Bone resorptionFurther BleedJoint Destruction
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Joint Bleeding
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Chronic Joint Bleeding
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The role of prophylaxis in the prevention of joint injury
Lofqvist, Nilsson et al ( Journal Int. Medicine May 1997): 34 patients aged 7-22yrs. Age at commencement of prophylaxis - 1-4.5yrs. 79% had no joint problems and the rest had no deterioration in joint abnormalities.
Liesner,Khair, Hann, ( BJH Mar 1996)27 children aged 1.3-15.9yrs. No. of bleeds/yr pre-prophylaxis-14.5 and post - 1.5. 20 children had evidence of arthropathy which improved on prophylaxis.
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Prophylaxis The Irish Data (1992-1997)
Bleeds/yr, pre-prophylaxis, 9.5-106 (mean 38)
Bleeds/yr, post-prophylaxis, 0-9 (mean 3.5)
Development of inhibitors, 2 - low level (
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ProphylaxisFactor VIII
T = 8 hoursFrequency three times/weekDose 20-40iu/kgFactor IX
T = 18 hoursFrequency twice/weekDose 50iu/kg
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Dose AdjustmentGrowth
Break through bleeds
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Management of Acute BleedsRest
Factor ConcentrateFVIII; 35-50iu/kgFIX; 70-100% (7-10iu/ml)Wt x desired rise x 1.25Continuous infusionFVIII50iu/kg bolus; infusion 4iu/kg/hrFIX100% bolus; infusion 6-8iu/kg/hr
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Mild Factor VIII DeficiencyFactor VIII
DDAVP0.3mcg/kg/30 min
Antifibrinolytic therapy
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Haemophilia The problems
BleedingDestructive arthropathyAddictionInfectionInhibitors
- InhibitorsAnti-FVIII Antibodies - IgGIncidence: 10-20%High responding or lowlevel/transient Familial incidence (x6)Majority
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Management of InhibitorsAcute Bleeding episodesFVIIa
Immune ToleranceHigh Dose 200-300iu/kg/d x 1-3 yrsCyclophosphamide/FVIII/IVIg50iu/kg/d x 1->12m25iu/kg/d x 1->12m
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Von Willebrands DiseaseAutosomal InheritanceAbnormal VWFS/S: easy bruising, mucosal bleeds, heavy periodsTreatment: antifibrinolytic agentsDDAVPPlasma derived factor (Fanhdi)Lab Investigations
FVIIIcVWF:AgVWF:RCFBleeding timeVWF Multimers