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Aplastic anaemia

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Aplastic anaemia

  1. 1. Aplastic Anemia Dr.Vikram Prabhakar (DCP,DNB Pathology)
  2. 2. APLASTIC ANEMIA • Reduction in the amount of haemotopoietic tissue causing inability to produce mature cells for discharge into the bloodstream.
  3. 3. CLASSIFICATION • Idiopathic • Secondary: idiosyncratic drug reaction chemical exposure infectious hepatitis paroxysmal nocturnal haemoglobinuria • Constitutional
  4. 4. CLASSIFICATION CONSTITUTIONAL/CONGENITAL • Fanconi anemia • Dyskeratosis Congenita • Shwachmann-Diamond syndrome • Inherited amegakaryocytic thrombocytopenia
  5. 5. FANCONI ANEMIA • Familial • AR • M:F=1.3:1 • Onset in 1st decade of life • Diminished capacity for DNA repair and increased random chromosome breakage during mitosis
  6. 6. C/F: • Facies – microphthalmia,depressed nasal bridge,epicanthic fold,micrognathia • Hyperpigmentation, café-au-lait spots • Absent / hypoplastic thumb • Skeletal and renal lesions • Short stature, • Microcephaly , subnormal intelligence • Hypogonadism,ano malies of urinary tract • Predisposition to leukemias • Poor prognosis
  7. 7. DYSKERATOSIS CONGENITA • X-linked, AR, AD • M:F= 4.3:1 • Hyperpigmentation • Nail dystrophy, early loss of teeth • Leukoplakia • Ocular abnormalities: cataract etc • Short stature but No skeletal/renal lesions (diff from FA)
  8. 8. DIAMOND BLACKFAN SYNDROME • Congenital pure red cell aplasia • AD, AR, Sporadic • Familial in 15 % • 90 % diagnosed in 1st year of life • Intrinsic defect in RBC, early apoptosis • Macrocytic anemia, reticulocytopenia, absence of RBC precursors in an otherwise normocellular bone marrow
  9. 9. DIAMOND BLACKFAN SYNDROME • Eye - Wide set eyes, blue sclera,glaucoma,epicanthic fold,cataract,strabismus • Thick upper,cleft lip palate in some cases • lip,intelligent expression • Upperlimb anomalies – flattening of thenar eminence, Triphalangeal thumb
  10. 10. C/F: • Profound anemia at 2-6 months of age • Short stature • Renal anomalies and hypogonadism maybe present
  11. 11. ACQUIRED APLASTIC ANEMIA - CAUSES • Radiation • Drugs and chemicals - chemotherapy - benzene - chloramphenicol - antiepileptics • Viruses: - CMV - EBV - Hep B, C,D - HIV • Immune diseases: - eosinophilic fascitis - thymoma • Pregnancy • PNH • Marrow replacement: - leukemia - myelofibrosis - myelodysplasia
  12. 12. PATHOPHYSIOLOGY • Direct destruction of hematopoietic progenitors • Disruption of marrow micro-environment (fibroblast and monocyte signaling pathway) • Immune –mediated suppression of marrow elements Cytotoxic T cells in blood and marrow release gamma IFN and TNF -> inhibit early and late progenitor cells
  13. 13. Pathology: • Hallmark: peripheral pancytopenia with hypoplastic/ aplastic bone marrow
  14. 14. CLINICAL FEATURES RBC (anemia) • Progressive and persistent pallor • Anemia related symptoms WBC (Leucopenia/neutropenia) • Prone to infections - Pyodermas, OM, pneumonia, UTI, GI infections, sepsis Platelets (Thrombocytopenia) • Petechiae, purpura, ecchymoses • Hematemesis, hematuria, epistaxis, gingival bleed • IC bleed- headache, irritability, drowsiness, coma
  15. 15. Failure of entire RES. No extramedullary hematopoesis No Hepato megaly Lympha denopa thy Spleno megaly
  16. 16. Blood picture: • Anemia-normocytic, normochromic • Leukopenia (neutropenia) • Relative lymphocytosis • Thrombocytopenia • Absolute reticulocyte count low • Mild to moderate anisopoikilocytosis
  17. 17. Other investigations • BM : dry aspirate, hypocellular with fat (>70% yellow marrow)
  18. 18. SEVERITY SEVERE APLASTIC ANEMIA • Granulocyte count <500/cu.mm • Platelet count <20,000/cu.mm • Reticulocytes <1% • BM < 25% of hematopoeitic cells VERY SEVERE/ EXTREME APLASTIC ANEMIA • Above + Granulocyte count <200/cu.mm
  19. 19. Table 42.2 Differential Diagnosis of Pancytopenia with a Hypocellular Bone Marrow Acquired aplastic anemia Inherited aplastic anemia Fanconi anemia Dyskeratosis congenital Shwachman-Diamond syndrome Amegakaryocytic thrombocytopenia Reticular dysgenesis Hypoplastic myelodysplastic syndromes Large granular lymphocytic leukemia (rare) Hypoplastic PNH (PNH/aplastic anemia)
  20. 20. DIFFERENTIAL DIAGNOSIS • ALL/AML • Human Herpesvirus 6 Infection • Megaloblastic Anemia • Multiple Myeloma • Myelodysplastic Syndrome • Non-Hodgkin Lymphoma • Osteopetrosis • Paroxysmal Nocturnal Hemoglobinuria • Primary Myelofibrosis
  21. 21. • The following tests aid in determining differential diagnosis for aplastic anemia:- 1)Bone marrow aspirate and biopsy: to rule out other causes of pancytopenia (i.e. neoplastic infiltration or significant myelofibrosis). 2)History of iatrogenic exposure to cytotoxic chemotherapy: can cause transient bone marrow suppression 3)X-rays, computed tomography (CT) scans, or ultrasound imaging tests: enlarged lymph nodes (sign of lymphoma), kidneys and bones in arms and hands (abnormal in Fanconi anemia)
  22. 22. 4)Chest X-ray: infections 5)Liver tests: liver diseases 6)Viral studies: viral infections 7)Vitamin B12 and folate levels: vitamin deficiency 8)Blood tests for paroxysmal nocturnal hemoglobinuria 9)Test for antibodies: immune competency
  23. 23. Concomitant factor • High incidence of concomitant clonal hematopoiesis, particularly paroxysmal nocturnal hemoglobinuria (PNH) and MDS.
  24. 24. • The percentage of CD34+ cells is usually <0.3% in aplastic anemia, whereas the CD34 percentage is either normal (0.5 to 1.0 %) or elevated in MDS. • Peripheral blood flow cytometry to rule out PNH should be performed on all patients.
  25. 25. Management: • Identification and elimination of underlying cause • Supportive therapy: 1. Red cell transfusion for anemia 2. Prevention and treatment of haemorrhage 3. Prevention and treatment of infection
  26. 26. THERAPY DEFINITIVE • BONE MARROW TRANSPLANTATION • IMMUNOSUPPRESSION
  27. 27. BONE MARROW TRANSPLANTATION • Treatment of choice • HLA matched donor. Usually siblings • Long term survival rates: 60-70% • Donor stem cells > 4 X 108 cells/kg
  28. 28. IMMUNOSUPPRESSION • Antithymocyte globulin (ATG) • Antilymphocyte glubulin (ALG) • Cyclosporin • Intensive immunosupression : cyclophosphamide • Corticosteroids
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