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CASE REPORT

CASE REPORT. Luca Maurillo Ospedale S. Eugenio – Cattedra di Ematologia Università Tor Vergata. CLINICAL HISTORY. Twenty years old male Asthenia, fever, dark urine No organomegaly Pancytopenia : WBC 2970/ m l (Neutrophils 35%) Hgb 6.9 g/dL MCV 110 fl Plts 28.000 / m l

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CASE REPORT

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  1. CASE REPORT Luca Maurillo Ospedale S. Eugenio – Cattedra di Ematologia Università Tor Vergata

  2. CLINICAL HISTORY • Twenty years old male • Asthenia, fever, dark urine • No organomegaly • Pancytopenia: • WBC 2970/ml (Neutrophils 35%) • Hgb 6.9 g/dL MCV 110 fl • Plts 28.000 /ml • Reticulocytes 110.000 mL

  3. CLINICAL HISTORY • Hyperbilirubinemia 2,39 mg/dL • Conjugated 0,32 • Non conjugated 2,07 • LDH 4000 U/L • Iron 117 mg/dl • Ferritin 379 ng/mL

  4. DIFFERENTIAL DIAGNOSIS HEMOLYTIC ANEMIA (PARVOVIRUS B19 INFECTION?) PNH MDS

  5. CLINICAL HISTORY • Radiological examinations: • Chest RX ray normal • TB CT scan normal • Abdominal echography normal • EGDS normal • Bone marrow aspirate • Erythroid hyperplasia, dyserythropoiesis • Blasts < 5% • Bone marrow biopsy: • No fibrosis • Additional tests: • Cytogenetics 46xy • Autoimmunity negative • Immunohematological tests negative • EPO in the serum 2040 mU/mL • Folate/Vit.B12 normal

  6. CLINICAL HISTORY • Additional tests: • Parvovirus B19 negative • Cell colture abnormal growth with a “MDS-like” pattern • Ham Test positive (+) • G6PD normal • PK normal • Erythrocyte membrane electrophoresis • Abnormal increase of spectrin dimers (38%, normal value 10%) • PNH phenotype negative

  7. CLINICAL DIAGNOSIS MDS RA subtype Red Cell membrane defect

  8. THERAPY • Suggested: AlloSCT (HLA compatible sibling donor available) • Patient refusal • Given: • Transfusion, 2-4 RPC per months • Amifostin: no response • EPO: no response (as expected)

  9. FOLLOW-UP • WBC and Plts normalization • Transfusional requirement: unmodified • Persistence of dark urine • Episodic abdominal pain • Renal hypertrophy with renal function normal • Splenomegaly • Normal ferritin levels

  10. Re-Evaluation Same results as the presentation, but emergence of PNH clone as demonstrated by flow cytometry

  11. R3 Negative control Positive control M2 M1 M1 90% 82% M2 M2 M1 M1

  12. WHO SHOULD BE SCREENED FOR PNH? • Patients with hemoglobinuria • Patientswith Coombs-negative intravascular hemolysis (high serum LDH), especially pts. with concurrent iron deficiency • Patientswith aplastic anemia (screen at diagnosis and once yearly even in the absence of evidence of intravascular hemolysis) • Patients with refractory anemia – MDS (recommended even in the absence of hemolysis) • Patients with venous thrombosis involving unusual sites • Patients with episodic dysphagia or abdominal pain with evidence of intravascular hemolysis Parker et al. Blood 2005

  13. PNH AND MDS • MDS/PNH • 4/40 pts (10%) MDS/PNH; cut-off 1% (CD55-, CD59-) • PNH cells detected only in RA-MDS patients • normocellular o hypercellular marrow on clot section • morfologic displasia on bone marrow smears • granulocytes CD59- ranged from 16-95% • erythrocytes CD59- ranged from 13-22% (PNH 35-80%) • Ham test mild in contrast with Classic PNH • cytogenetic analysis: 1 trisomy 8, 3 normal karyotype • PIG-A mutations in granulocytes • MDS/PNH resembles AA/PNH (low PNH erythrocytes) • Does MDS predispose to PNH creating conditions favourable to the genesis of PNH clone? • Iwanago et al. Br J Hem 1998

  14. PNH AND MDS • Cut-off 1% (cells CD15+CD16-CD66b-) • Pathology PNH clone % • 115 Aplastic Anemia 22 • 39 MDS 23 • 28 BMT pts 0 • 18 cancer pts 0 • 13 LGL 0 • 20 renal allografts 0 • 21 healthy participants 0 • Dunn and al Ann Int Med,1999

  15. PNH AND MDS • Cut-off 0.003% (cells CD11b/Gly-A+CD55-CD59-) • MDS subtype N°pts PNH clone % • RA 119 17* • RARS 4 0 • RAEB 33 0 • RAEB-t 8 0 * Percentage PNH-type granulocytes <1% in 17/21 (81%) PNH+ patients Wang et al. Blood 2002

  16. PNH AND MDS Wang et al. Blood 2002

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