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Hemophilia Update 2015

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Hemophilia Update 2015 J. Martin Johnston, MD Pediatric Project ECHO 7 December 2018 Objectives Review history and physical exam as they relate to a potential bleeding disorder Discuss step-wise laboratory evaluation: screening labs and follow-ups Review some common congenital and acquired bleeding disorders, and their management Objectives Review history and physical exam as they relate to a potential bleeding disorder Discuss step-wise laboratory evaluation: screening labs and follow-ups Review some common congenital and acquired bleeding disorders, and their management Objectives Review history and physical exam as they relate to a potential bleeding disorder Discuss step-wise laboratory evaluation: screening labs and follow-ups Review some common congenital and acquired bleeding disorders, and their management The chief complaint “Easy” bruising Nosebleeds Petechiae Menorrhagia Bleeding after Circumcision Tonsillectomy/adenoidectomy, tooth extraction Mild (head) trauma The problem…. • Everyone bleeds. • All bleeding eventually stops. The bleeding history Birth/neonatal Tooth eruption/shedding Bruising Nosebleeds Surgeries? (don’t forget circumcision!) Orthopedic hx (traumas, joints) Menstruation Family history How much bleeding is too much? Neonatal ICH, needle/heel sticks, post-circumcision How much bleeding is too much? Neonatal ICH, needle/heel sticks, post-circumcision Infant Petechiae, chest/back/buttock bruising Consider NAT How much bleeding is too much? Neonatal ICH, needle/heel sticks, post-circumcision Infant Petechiae, chest/back/buttock bruising Consider Toddler NAT Soft tissue or joint bleeds, large/palpable bruises How much bleeding is too much? Neonatal ICH, needle/heel sticks, post-circumcision Infant Petechiae, chest/back/buttock bruising Toddler Soft tissue or joint bleeds, large/palpable bruises Older child Recurrent prolonged nosebleeds (bilateral), joint bleeds, hematomas, menorrhagia “Easy” bruising Without associated trauma (painless) Unusual locations Palpable (hematomas) “Bigger than a quarter”? Petechiae Considerations: Low platelets Dysfunctional platelets Vasculitis ○ Viral? HSP? “Trauma” ○ Cough, vomiting, venous stasis (“choking”) Collagen disorder: vascular integrity ↓ Menorrhagia Definition: Excessive but regular menstrual bleeding ○ > 80 mL blood loss / cycle Menorrhagia Definition: Excessive but regular menstrual bleeding ○ > 80 mL blood loss / cycle ○ > 7 days of menstruation Menorrhagia Definition: Excessive but regular menstrual bleeding ○ > 80 mL blood loss / cycle ○ > 7 days of menstruation Passing clots Saturating pad/tampon q 2 hours ○ Double barrier ○ Replacing overnight Menorrhagia Definition: Excessive but regular menstrual bleeding ○ > 80 mL blood loss / cycle ○ > 7 days of menstruation Pad Passing clots Saturating pad/tampon q 2 hours Tampon ○ Double barrier ○ Replacing overnight Not just number of pads/tampons Clots? 1x25¢ Overflow? “Bleeding Score” (history) to identify von Willebrand Disease 90% Putting it all together…. 90% 25% 90% Rodeghiero F et al. J Thromb Haemost 2005; 3:2619-26 The problem…. • Everyone bleeds. Family history Known diagnoses? “Free bleeders” Unexplained death in childhood Recurrent (prolonged) nosebleeds Menorrhagia Patterns of inheritance: Dominant: vWD X-linked: hemophilia Platelet disorders Recessive: rare factor deficiencies Physical exam Conjunctival/mucosal hemorrhages Petechiae Distribution Bruises Age/color Number/size Palpable? Tender? Distribution Physical exam (cont) Joints 2 Warm/tender/tense Boggy 2 Range of motion: 2 ○ Chronic arthropathy? 2 ○ Hyperextensible? 1 May suggest an underlying collagen disorder Initial lab evaluation of suspected coagulopathy CBC/smear PT/INR aPTT Platelet function analysis? Thrombocytopenia If isolated and mild (>100k), often not significant (MPV?) If isolated and severe, think ITP Thrombocytopenia If isolated and mild (>100k), often not significant (MPV?) If isolated and severe, think ITP Associated anemia? Blood loss; hypersplenism, Evans syndrome, TTP Thrombocytopenia If isolated and mild (>100k), often not significant (MPV?) If isolated and severe, think ITP Associated anemia? Blood loss, hypersplenism, Evans syndrome, TTP Neutropenia? Viral illness, autoimmune, acute leukemia Thrombocytopenia If isolated and mild (>100k), often not significant (MPV?) If isolated and severe, think ITP Associated anemia? Blood loss, hypersplenism, Evans syndrome, TTP Neutropenia? Viral illness, autoimmune, acute leukemia Pancytopenia? Acute leukemias, aplastic anemia, neuroblastoma Platelet morphology Larger platelets often suggest a destructive process, e.g., ITP Platelet morphology Large platelets often suggest a destructive process Dysfunctional platelets may look abnormal Gray platelet syndrome Bernard-Soulier syndrome Bloodjournal.com Platelet morphology Large platelets often suggest a destructive process Dysfunctional platelets may look abnormal Gray platelet syndrome Bernard-Soulier syndrome But most dysfunctional platelets look normal Platelet function PFA-100 in vitro “substitute” for template bleeding time Theoretical screen for platelet function defects and vWD Issues with sensitivity/specificity, reproducibility Platelet function Platelet function analysis Platelet aggregometry Not available in Reno Patient must be sent (fresh specimen required) Electron microscopy, gene profiles Contact system: HMWK, PK, F XII Kallikrein, F XIIa Cellular injury: Tissue Factor PT/INR F XI F XIa F VIIa F VII F IX F IXa TFPI F VIII F VIIIa F X F Xa Antithrombin Prothrombin (F II) Heparin cofactor II F V F Va Thrombin (F IIa) Activated Protein Ca Fibrinogen Fibrin monomer Protein S Protein C + thrombomodulin Crosslinked fibrin Fibrin multimer F XIIIa F XIII Contact system: HMWK, PK, F XII Kallikrein, F XIIa Cellular injury: Tissue Factor F XI F XIa aPTT F VIIa F VII F IX F IXa TFPI F VIII F VIIIa F X F Xa Antithrombin Prothrombin (F II) Heparin cofactor II F V F Va Thrombin (F IIa) Activated Protein Ca Fibrinogen Fibrin monomer Protein S Protein C + thrombomodulin Crosslinked fibrin Fibrin multimer F XIIIa F XIII Prolonged aPTT with normal PT/INR Deficiency versus inhibitor Mixing studies help distinguish ○ Correction implies something is “missing” ○ Lack of correction implies “active” inhibition Prolonged aPTT with normal PT/INR Deficiency versus inhibitor Mixing studies help distinguish Inhibitor: possible “Lupus anticoagulant” In young children, usually benign/transient If persistent, risk of clotting, not bleeding! Prolonged aPTT with normal PT/INR Deficiency versus inhibitor Mixing studies help distinguish Inhibitor: possible Lupus anticoagulant In young children, usually benign/transient Risk of clotting, not bleeding! Deficiency: fVIII, fIX: hemophilia vWF: “carrier” for fVIII fXI: Ashkenazi? (“hemophilia C”) fXII: relatively common; does not cause bleeding! 2nd-tier coag testing Mixing studies Specific factor levels von Willebrand panel Fibrinogen Thrombin time 775-982-5427 factor XIII 775-982-KIDS 912-658-5223 Questions? High Uintas Wilderness Area, Utah “Common” pediatric bleeding disorders ITP von Willebrand disease Hemophilia ITP (idiopathic thrombocytopenic purpura) ITP (immune thrombocytopenic purpura) ITP (immune thrombocytopenia) ITP (immune thrombocytopenia) • Antibody-mediated platelet destruction • “Acute” (resolves within 6-12 months) most common in toddlers • Abrupt onset of bruising/petechiae; otherwise “well” • Isolated, profound thrombocytopenia • Debate re best management: observation is often appropriate • More likely to persist (“chronic” ITP) in older/female patients • Immune suppression • Splenectomy • Thrombopoietin analogues von Willebrand disease Hereditary Pseudohaemophilia (1926) von Willebrand disease Dominantly inherited (types 1 and 2) Relatively common Rarely life-threatening von Willebrand disease Dominantly inherited (types 1 and 2) Relatively common Rarely life-threatening Mucocutaneous bleeds Menorrhagia Dental/oral bleeds Post-tonsillectomy/adenoidectomy von Willebrand disease (Type 1) (Type 2) Deficiency or dysfunction of von Willebrand factor (vWF) von Willebrand disease (Type 1) (Type 2) Deficiency or dysfunction of von Willebrand factor (vWF), which: Mediates initial platelet adhesion at sites of vascular injury von Willebrand disease Deficiency or dysfunction of von Willebrand factor (vWF) Mediates initial platelet adhesion at sites of vascular injury “von Willebrand panel” assays all of these Self-polymerizes to form multimers Binds and stabilizes factor VIII von Willebrand disease Work-up: aPTT may be normal or mildly prolonged PFA-100 “should” be abnormal von Willebrand disease Work-up: aPTT may be normal or mildly prolonged PFA-100 “should” be abnormal von Willebrand panel ○ Notoriously variable ○ Lower limits of normal are debated von Willebrand disease Work-up: aPTT may be normal or mildly prolonged PFA-100 “should” be abnormal von Willebrand panel ○ Notoriously variable ○ Lower limits of normal are debated <50% suggestive <40% suspicious <30% definitive von Willebrand disease Work-up: aPTT may be normal or mildly prolonged PFA-100 “should” be abnormal von Willebrand panel ○ Notoriously variable ○ Lower limits of normal are debated <50% suggestive <40% suspicious <30% definitive (maybe) von Willebrand panel/profile vWF antigen How much protein? vWF (a.k.a. ristocetin cofactor) activity How well
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