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DBA TEC Age Infancy 1-3y/o Inherited? Acquired Antecedent illness No

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Presentation on theme: "DBA TEC Age Infancy 1-3y/o Inherited? Acquired Antecedent illness No"— Presentation transcript:

1 DBA TEC Age Infancy 1-3y/o Inherited? Acquired Antecedent illness No Viral illness Abnormal facies/anomalies Yes: 25-50% RBC Adenosine Deaminase High Normal MCV (?high in recovery) Hgb F (?high in recovery

2 Differences: DBA and TEC
Spontaneous Recovery Rarely Almost always Transfusion Common Uncommon Steroids Helpful No Incidence Rare DBA may be considered premalignant syndrome Laughing: Pediatric Boards

3 Caution! Both DBA and Fanconi Anemia can have:
Thumb abnormalities, urogenital defects, severe anemia DBA will typically be ISOLATED ANEMIA

4 Think about it 12 month old TEC in recovery phase
Severe anemia (Hbg 3) Recent viral illness Reticulocytosis TEC in recovery phase

5 Question 5 Name the syndrome which is characterized by microangiopathic hemolytic anemia caused by a giant hemangioma. A: Stendhal Syndrome B: Kasabach-Merritt Syndrome C: Capgras Syndrome D: Cotard Syndrome

6 Kasabach-Merritt Syndrome
Giant hemangioma Serves as trap for platelets Localized consumptive coagulopathy Risk for DIC Bone marrow is normal Tx: Address hemangioma Support with transfusions

7 White blood cells

8 Leukemoid Reaction Differentiated from leukemia by B.M. Biopsy
Leukocyte alkaline phosphatase (LAP) Increased in leukemoid reaction Down Syndrome Transient leukemoid reaction as neonate 20-30% of these: leukemia in 1st 3 yrs of life

9 Reilly (Alder-Reilly) Bodies
WBC metachromatic prominent granules Stained with toluidine blue Pathognomonic for Hurler syndrome


11 Question 6 A previously healthy 4 year old girl is seen for petechiae and diffuse bruises. She is anxious but afebrile, alert and not in any distress. She is noted to have bleeding from the gums and moderately severe epistaxis. Lab studies reveal: Hgb 12.5; WBC 7 with a normal diff; platelets Part of the initial management would include A. Immediate bone marrow exam for suspected leukemia B. Blood cultures and IV antibiotics C. Careful PE, review of the smear and consideration of IVIG therapy D. Type and cross match and infusion of FFP E. Emergency splenectomy following platelet transfusion Answer C

12 Bleeding Disorders

13 Bleeding Disorders Mucocutaneous bleeding Purpura Petechiae Ecchymoses
Disorders of Platelets Deep tissue bleeding Joint bleeds Coagulopathies

14 Bleeding Disorders Bleeding in either may be Epistaxis Trauma Surgery
Hematuria Guaiac-positive stools Menorrhagia CNS bleeding Epistaxis More likely to be nose picking, dry mucous membranes or rarely HTN

15 Bleeding Disorders Evaluation CBC c diff Platelet count PT PTT
Bleeding time or closure time

16 Platelet Disorders Isolated Thrombocytopenia
Idiopathic or immune thrombocytopenias Hypersplenism DIC Consumption Intracardiac defect or bypass Washout from exchange transfusion Local microangiopathic disease HUS Local thrombosis Renal vein thrombosis

17 Platelet Disorders ITP Look at the smear!
Large platelets = platelet destruction Hx Recent viral infection Tx IVIG Anit-D antibody Only if pt is Rh positive Splenectomy when unresponsive Bone marrow When unresponsive Picture 1 – large platelet Picture 2 – increased megakaryocytes in the bone marrow

18 Platelet Disorders Isoimmune Thrombocytopenia in the Newborn
Fetal platelets cross the placenta into maternal circulation Maternal IgG produced against the platelet antigen Suspect when Maternal platelets normal Risk Cephalohematoma Bleeding from umbilicus ICH Tx Washed maternal platelets IVIG

19 Platelet Disorders Decreased production = decreased or absent megakaryocyte precursors TAR syndrome Thrombocytopenia-absent radius Amegakaryocytic thrombocytopenia Leukemoid reactions CHD FTT In both conditions, thrombocytopenia resolves with age

20 Platelet Disorders Qualitative or functional platelet disorders
Normal number and clotting studies but poorly functioning platelets First ask for history of . . . Drug exposure Uremia Hypothyroidism Hyperbilirubinemia IBD Von Willebrand disease

21 Question 7 A 16 month old boy is brought to the ER with persistent crying and refusal to move his right arm. The history is negative for fever and trauma. Past history is significant for bleeding from his circumcision and easy bruising. PE shows boggy, tender swelling of the right elbow with marked decrease in ROM. The Hb is 11.2; WBC, plts and inflammatory markers are normal. You plan would be A. Obtain a skeletal survey to r/o child abuse B. Admit the patient for evaluation of a bone tumor C. Request an orthopedic consultation for aspiration of the elbow joint. D. Obtain a FH, PT, PTT, factor assay and consider factor replacement therapy E. Close monitoring of the patient w/o intervention for the presumptive diagnosis of HSP Answer D

22 Coagulopathies Deficiency in factors Causes Testing
Decreased production Genetic defects Acquired conditions Overutilization of factors Testing PT Extrinsic and common PTT Intrinsic and common Make sure you check age related values

23 Coagulopathies Hemophilia A (VIII) and B (IX) X-linked recessive
Males Prolonged PTT Variable degrees of deficiency and disease Mild 5-30% factor activity Bleeding with surgery or major trauma Moderate 1-5% factor activity Localized hemorrhage in response to trauma Severe <1% factor activity Spontaneous soft tissue hemorrhages or bleeding with minor trauma

24 Coagulopathies Hemophilia Presentation Birth 12-18 months
Circumcision 12-18 months Increased mobility and bleeding with minor trauma Most commonly affected systems Musculoskeletal Hemarthroses Soft tissue bleeding with intramuscular hematomas CNS Urinary

25 Coagulopathies Hemophilia Secondary hemophiliac arthropathy
Knees Elbows Ankles Contractures Painful arthritis Compartment syndrome Intramuscular bleeding Picture 1 – Arthritis with widened joint space on the left Picture 2 – pseudotumor from bony destruction from recurrent hemarthroses

26 Von Willebrand Disease
Most common heritable bleeding disorder Bleeding time or closure time is increased with or without an increase in the PTT Most are AD Most are asymptomatic and found incidentally If symptomatic Abnormal mucosal bleeding Frequent epistaxis Menorrhagia

27 Von Willebrand Disease
What does VWF do? Responsible for the adherence of platelets to damaged endothelium Required for normal Factor VIII function Types I and III Quantitative I is most common II Qualitative

28 Von Willebrand Disease
Testing Von Willebrand factor antigen Von Willebrand factor ristocetin cofactor activity Factor VIII levels Treatment DDAVP Causes release of factor stores from platelets and endothelial cells Quantitative Factor replacement Donor blood products Qualitative Testing helps differentiate between the different types

29 Acquired Disorders Inhibitors Testing Example
Mix patients plasma with normal plasma PT or PTT will fail to correct Example Lupus anticoagulant Actually predisposes to thrombosis 10% of patients with Lupus Also acquired after some medications or other infectious organisms Persists for months

30 Thrombotic disorders

31 Thrombosis Disruption in the balance of procoagulant and antithrombotic factors Rare in children Infants and adolescents Incidence increasing Due to use of indwelling lines

32 Thrombosis Increased risk Retardation of blood flow Endothelial damage
Severe dehydration Immobilization Endothelial damage Indwelling catheters Family history Past history of thrombosis Recurrent spontaneous abortions Thrombosis during pregnancy Nephrotic syndrome

33 Thrombosis Protein C Protein S
Vitamin K dependent Inhibits procoagulant factors Va and VIIIa Decreases clot formation Protein S Cofactor required for anticoagulant activity of protein C Deficiency of either leads to clot formation

34 Thrombosis Antithrombin III Paroxysmal Nocturnal Hemoglobinuria
Inhibitor Complexes with thrombin, factor Xa and factor IXa Deficiency lead to loss of inhibition and thrombosis Paroxysmal Nocturnal Hemoglobinuria Rare Cells with an increased sensitivity to complement Leads to Abdominal and back pain Chronic intravascular hemolysis Intermittent hemoglobinuria Diffuse venous thrombosis

35 Thrombosis Factor V Leiden Factor II prothrombin gene variant
Mutations lead to protein C resistance Can’t degrade procoagulant factors Factor II prothrombin gene variant Increased factor II Methylene tetrahydrofolate reductase (MTHFR) gene mutation Thermolabile variant Increased plasma homocyteine levels Genetic testing may be done Not affected by anticoagulants

36 Question 8 An infant you are seeing in the newborn nursery is born with hypoplastic thumbs and some abnormal skin pigmentation. You suspect that the patient may have Fanconi’s anemia. What test should confirm the diagnosis? A. Chromosomal analysis B. Bone Marrow Biopsy C. CBC with peripheral smear D. CBC with reticulocyte count E. CBC with diff Answer: A; While patients may have an anemia early in life, they do not develop signs of bone marrow failure until midchildhood.

37 Pancytopenia

38 Pancytopenia Definition Results from a number of disease processes
Reduction in all three formed elements of the blood Results from a number of disease processes Bone marrow failure Depressed marrow function and increased cellular destruction

39 Aplastic Anemia Insult to the bone marrow Bone marrow failure
Drugs Toxins Solvents Radiation Autoimmune Postinfectious Idiopathic 50% Bone marrow failure Death from infection or bleeding unless there is an intervention Hypoplastic bone marrow

40 Fanconi Anemia Autosomal recessive Signs Testing Treatment
Pancytopenia Marrow hypoplasia Congenital anomalies Abnormal skin pigmentation Growth retardation Skeleton Absent or hypoplastic thumb CNS GU Testing Fragility of the chromosomes Breaks, gaps and rearrangements Treatment Frequent transfusions Bone marrow transplant Picture 1 – small affected female with unaffected siblings

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