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Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease Renee Marlette APRN, FNP-BC Hemophilia Treatment Center.

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Presentation on theme: "Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease Renee Marlette APRN, FNP-BC Hemophilia Treatment Center."— Presentation transcript:

1 Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease Renee Marlette APRN, FNP-BC Hemophilia Treatment Center Hematology/Oncology Primary Children’s Medical Center

2 Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease Identify red flags indicative of a bleeding diathesis in pediatric patients Identify critical components of history, physical examination and laboratory studies Pearls on recognition & management of Hemophilia Pearls on recognition & management of von Willebrand Disease

3 Hemophilia Treatment Center Primary Children’s Medical Center Hematology/Oncology

4 Red Flags: History* Ecchymosis? Soft tissue hematoma? Joint hemorrhages? Delayed bleeding? Bleeding from superficial skin abrasions? Bleeding from tooth extraction/T&A/surgery? Menorrhagia? (define) Male or Female? Medications? (NSAIDS, ASA, herbals) *Not all bleeding episodes suggest a bleeding disorder!

5 WHO Bleeding Scale

6 Red Flags: Family History X-linked recessive inheritance? Male siblings and maternal uncles/grandfather Hemophilia Autosomal dominant inheritance? Mother or father may transmit Mucocutaneous symptoms vWD, Autosomal recessive & Negative inheritance 30% of Hemophilia de novo

7 Red Flags: Physical Exam Is this bruising within normal limits? Indurations Placement Petechiae Wet purpura Epistaxis Hemarthrosis vs. soft tissue bleeds Hyperflexibility of small joints and skin tissue laxity

8 Differentiation of Symptoms Common to all Differentiating “easy/prolonged” bleeding Mucocutaneous Symptoms Excessive bruising- indurations Excessive initial bleeding Petechiae Oral, nasal mucosa Genital tract (menorrhagia) Hemarthrosis Excessive bruising Excessive continued bleeding PAIN with compression Differentiate from soft tissue bleeding

9 Coagulation screening in Children

10 Laboratory & Diagnostic Studies Level I CBC (Hgb/Hct/MCV/MCH/RBC/Plt) PT PTT Level 1.5 vWP, TSH PFA-100 Fibrinogen (TT) Level II vWP with multimers, ABO PT mixing study  factor VII PTT mixing study  factors IX, X (XI, others) PT & PTT prolonged  factors II, V, X DRVVT /Lupus anticoagulants TT with RT

11 Coagulation Cascade

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13 Hemophilia- Diagnosis X-linked genetic disorder Factor Deficiency Prolonged PTT CORRECTS with 1:1 mixing study Bleeding symptoms Prevalence 1 in 5,000 male births Estimated in US 20,000

14 Hemophilia- Definitions Factor Deficiency Hemophilia A: FVIII Hemophilia B: FIX Hemophilia C: FXI Severity Mild> 5% - 50% Moderate1 – 5% Severe < 1%

15 Hemophilia – Presentations X-linked Family History 30% new mutations Symptoms Bruising/bleeding *Hemarthrosis (joint) – *Hallmark Soft tissue/deep muscle Nose/mouth, other bleeds

16 Hemophilia – Presentations Severity of clinical bleeding symptoms Genetics Hemophilia A vs. Hemophilia B Female: Symptomatic carriers d/t Lionization Expression of one of the X chromosomes is randomly suppressed

17 Hemophilia – Presentations 5 major emergent bleeds: Head Eye Neck/Throat Abdominal/Stomach Kidney/Bladder

18 Hemophilia- Tx with FACTOR Factor Replacement Percent correction 50% correction 100% correction Products based on purity Whole-molecule Recombinant Dosing Factor VIII: 1 mg/kg  2% increase Factor IX: 1 mg/kg  1% increase

19 Hemophilia- Treatment Treatment Options RICE – rest, ice, compression, elevation Factor replacement Prophylaxis For Severe (<1% factor) patients Prior to aggressive activities DDAVP (Stimate) Mild Hemophilia A Topical Measures Antifibrinolytics: Amicar, Lysteda

20 Hemophilia – Clinical Situations Newborn Protocol Cord blood for PTT, factor level if +FHx Factor only if bleeding DELAY circumcision for 1 year Yes Vit K, Hep B SQ Immunizations SQ injections, pressure 10 min, ice (not direct) 10 min, call if swelling Dental procedure Ab coverage (ports) +/- factor +/- antifibrinolytic Surgery /Trauma IHTC consultation – notify early

21 Hemophilia INHIBITORS Development of autoimmune response with antibody development 30% of Hemophilia A patients lifetime Level Low-level <5 BU High/responder >5 BU Treat with bypassing agent for bleeding ITT – Immune Tolerance Therapy

22 Hemophilia OUTCOMES Improved morbidity and mortality when connected with IHTC Role of PCP/specialty groups FUTURE THERAPIES Long-Acting Factors Factor IX Factor VIII Gene Therapy Europe, factor IX Factor purity

23 von Willebrand Disease Inherited bleeding disorder Genetic mutation Dysfunction of or deficiency of von Willebrand factor (vWF) Platelet adhesion Binds and stabilizes FVIII Most common genetic bleeding disorder 1:10,000 or 1:1000?

24 From The Diagnosis, Evaluation, and Management of von Willebrand Disease, US Dept of HHS 2007

25 Bleeding Score: Modified Vicenza Score

26 Total all 3 columns BS >3 in males or >5 in females was 98.6% specific for vWD BS can be as predictive or superior to vWF level if the bleeding is after tooth extraction or surgery In pediatrics, a mean BS is 0.5, normal range: 1.5 to 2.5 Children with known vWD: median BS: 7

27 From The Diagnosis, Evaluation, and Management of von Willebrand Disease, US Dept of HHS 2007

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29 von Willebrand Disease vWP testing –do the panel! Factor VIII vWAg Actual protein vWF (Ristocetin Cofactor /RCo) Effectiveness of the von Willebrand protein Look at ratio of vWF (RCo): vWAg > 0.7 in Type 1 Multimeric analysis

30 von Willebrand Disease von Willebrand multimers help determine the subtype

31 von Willebrand Disease

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33 Pearls on testing… Do not treat until confirmed laboratory diagnosis of type and severity (unless emergency) DDAVP-responsiveness should be tested while non-bleeding vWF lowest first 1-3 days of menstrual cycle vWF stress-reactant protein may need to retest other platelet disorder? Can you test on OCPs?

34 von Willebrand Disease- Tx Options Avoid NSAIDs and other platelet –inhibiting drugs Hormonal Therapy –pair with OB OCP – monophasic, active pills to allow menses 1-2x/year Depo shot, NuvaRing Levonorgestrel intrauterine system DDAVP (Stimate) Concentration 150mcg/spray Precautions: frequency, storage, dose, fluid restriction Adjuvant Therapies: Antifibrinolytics Aminocaproic acid (Amicar) Tranexamic acid (Lysteda) von Willebrand FACTOR Humate P, Alphanate, Koate DVI

35 Fibrinolysis Cascade Aminocaproic Acid (Amicar) Tranexamic Acid (Lysteda)

36 von Willebrand Disease – Tx Pearls Goal is cessation of bleeding (prophylaxis for surgical procedures) no long-term prophylaxis Immunization Hep A and B Genetic counseling Oral surgery: Antifibrinolytics, DDAVP, topical agents (fibrin sealant, topical thrombin), surgical hemostatic measures All major surgeries should be Tx in hospitals with monitoring and hematology Do not exceed vWF: RCo > 200 IU/dL, factor VIII >250% CALL FOR CONSULTATION - IHTC

37 Von Willebrand Disease Menorrhagia Menorrhagia or abnormal vaginal bleeding- full gynecological eval before therapy (grade C, level IV) Adolescent or adult not desiring pregnancy OCPs should be first choice Levonorgestrel intrauterine system Desire pregnancy DDAVP, antifibrinolytics, vWF concentrate D&C is not usually effective in managing excessive uterine bleeding for women with vWD Labor & Delivery Plan with hematologist prior to pregnancy, high risk If vWF:RCo levels & FVIII >50 may consider regional anesthesia Delivery and post-partum support

38 Von Willebrand Disease OUTCOMES Depending on management FUTURE THERAPIES Long-Acting von Willebrand Factor Gene therapy – potentially for vWD type 3 low prevalence, not likely to be high priority

39 Summary - Case Studies 13 month old male infant who is starting to walk and presents with a painful swollen joint after falling down one step… 12 year-old girl with excessive menstrual bleeding from menarche, recurrent nosebleeds, and pallor… 5 year-old girl child who is not clinically ill but presents with moderate Mucocutaneous purpura with a recent viral infection…

40 Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease Identify red flags indicative of a bleeding diathesis in pediatric patients Identify critical components of history, physical examination and laboratory studies Recognition & Management of Hemophilia Recognition & Management of von Willebrand Disease THANK YOU!...Questions?


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