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Mistaken diagnosis of hereditary ITP

case presentation. 25 year old woman referred to a heme/onc physician for evaluation of asymptomatic thrombocytopeniaHer sister, mother, and maternal uncle also had low platelet counts, but were not symptomaticCBC report: WBC 5.5 Hgb 12.9 Plt 13,000 low platelet count confirmed by manual method

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Mistaken diagnosis of hereditary ITP

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    1. mistaken diagnosis of hereditary ITP Charles Eby June 18, 2004

    2. case presentation 25 year old woman referred to a heme/onc physician for evaluation of asymptomatic thrombocytopenia Her sister, mother, and maternal uncle also had low platelet counts, but were not symptomatic CBC report: WBC 5.5 Hgb 12.9 Plt 13,000 “low platelet count confirmed by manual method”

    3. Bone marrow biopsy/aspirate performed: Pathologist findings: peripheral blood: “only truly notable finding was the presence of marked thrombocytopenia with plt count 26,000. Some of the scattered platelets are rather large forms” Biopsy/aspirate: 55% cellularity, M:E 3:1, normal maturation, “megakaryocytes show no consistent changes in cytoplasmic granularity or nuclear ploidy” Final diagnosis: “marked thrombocytopenia with mild megakaryocytic hyperplasia”

    4. Patient given diagnosis of familial ITP Prednisone 60 mg/d x 2 weeks Plt counts: Day 1: 19,000 Day 4: 28,000 Day 9: 41,000 Day 14: 28,000 Assessment: non-responder to prednisone, recommended splenectomy Patient requested 2nd opinion

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