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Aplastic anaemia
- 1. Aplastic Anemia Dr.Vikram Prabhakar(DCP,DNB Pathology)
- 2. APLASTIC ANEMIA • Reductionin the amount of haemotopoietic tissue causing inability to produce mature cells for discharge into the bloodstream.
- 3. CLASSIFICATION • Idiopathic • Secondary: idiosyncraticdrug reaction chemical exposure infectious hepatitis paroxysmal nocturnal haemoglobinuria • Constitutional
- 4. CLASSIFICATION CONSTITUTIONAL/CONGENITAL • Fanconi anemia •Dyskeratosis Congenita • Shwachmann-Diamond syndrome • Inherited amegakaryocytic thrombocytopenia
- 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. 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. 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. 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. 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. C/F: • Profound anemiaat 2-6 months of age • Short stature • Renal anomalies and hypogonadism maybe present
- 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. PATHOPHYSIOLOGY • Direct destructionof 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. Pathology: • Hallmark: peripheralpancytopenia with hypoplastic/ aplastic bone marrow
- 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. Failure of entireRES. No extramedullary hematopoesis No Hepato megaly Lympha denopa thy Spleno megaly
- 16. Blood picture: • Anemia-normocytic,normochromic • Leukopenia (neutropenia) • Relative lymphocytosis • Thrombocytopenia • Absolute reticulocyte count low • Mild to moderate anisopoikilocytosis
- 18. Other investigations • BM: dry aspirate, hypocellular with fat (>70% yellow marrow)
- 19. 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
- 20. Table 42.2 DifferentialDiagnosis 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)
- 21. DIFFERENTIAL DIAGNOSIS • ALL/AML •Human Herpesvirus 6 Infection • Megaloblastic Anemia • Multiple Myeloma • Myelodysplastic Syndrome • Non-Hodgkin Lymphoma • Osteopetrosis • Paroxysmal Nocturnal Hemoglobinuria • Primary Myelofibrosis
- 22. • The followingtests 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)
- 23. 4)Chest X-ray: infections 5)Livertests: 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
- 24. Concomitant factor • Highincidence of concomitant clonal hematopoiesis, particularly paroxysmal nocturnal hemoglobinuria (PNH) and MDS.
- 26. • The percentageof 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.
- 27. Management: • Identification andelimination of underlying cause • Supportive therapy: 1. Red cell transfusion for anemia 2. Prevention and treatment of haemorrhage 3. Prevention and treatment of infection
- 28. THERAPY DEFINITIVE • BONE MARROWTRANSPLANTATION • IMMUNOSUPPRESSION
- 29. 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
- 30. IMMUNOSUPPRESSION • Antithymocyte globulin(ATG) • Antilymphocyte glubulin (ALG) • Cyclosporin • Intensive immunosupression : cyclophosphamide • Corticosteroids
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