JR2 GENERAL MEDICINE TDMCH BONE MARROW FAILURE SYNDROMES HYPOPROLIFERATIVE ANEMIA APLASTIC ANEMIA MYELODYSPLASTIC SYNDROME PURE RED CELL APLASIA MYELOPHTHISIS APLASTIC ANEMIA DEFINITION PANCYTOPENIA BM HYPOCELLULARITY ID: 1037029
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1. APLASTIC ANEMIADR IBRAHIM ALI SALEEM JR2, GENERAL MEDICINETDMCH
2. BONE MARROW FAILURE SYNDROMES HYPOPROLIFERATIVE ANEMIA APLASTIC ANEMIAMYELODYSPLASTIC SYNDROMEPURE RED CELL APLASIAMYELOPHTHISIS
3. APLASTIC ANEMIA: DEFINITIONPANCYTOPENIA + BM HYPOCELLULARITYTYPES:IDIOPATHIC – most commonINHERITED/CONSTITUTIONALACQUIREDABRUPT ONSET OF LOW BLOOD CELL COUNTSPREVIOUSLY WELL YOUNG ADULTPRECEDING SERONEGATIVE HEPATITISH/O INCRIMINATED DRUGIMMUNOLOGICAL DISEASEAA - CLOSELY RELATED TO PNH AND MDS
4. NORMAL BM, APLSTIC MARROW PICS
5. EPIDEMIOLOGYMALE = FEMALEBIPHASIC AGE DISTRIBUTIONMAJOR PEAK – TEENS (20s)SECOND RISE – OLD AGE
6. ETIOLOGYTABLE 98.2
7. RADIATIONDNA DAMAGENUCLEAR ACCIDENTSCHEMICALSBENZENE
8. DRUGSDOSE DEPENDENT EFFECTSALL RECEPIENTSIDIOSYNCRATIC REACTIONSUNPREDICTABLE
9. TABLE 98.3
10. INFECTIONSHEPATITISPOST HEPATITIS MARROW FAILURE5% YOUNG MENSERONEGATIVE (NON-A,NON-B,NON-C)INFECTIOUS MONONUCLEOSIS – EBVPARVOVIRUS B-19TRANSIENT MILD BLOOD COUNT DECREASEHIV-1
11. PREGNANCYRESOLVES BY DELIVERYABORTION
12. IMMUNOLOGIC DISEASESGVHDNON-IRRADIATED BLOOD PRODUCTS IMMUNODEFICIENT RECEPIENTSEOSINOPHILIC FASCITIS.PAINFUL S/C NODULESTHYOMOMAHYPOGAMMAGLOBULINEMIASLE
13. PAROXYSMAL NOCTURNAL HEMOGLOBINURIAPIG-A MUTATION (ACQUIRED)....
14. CONSTITUTIONAL DISORDERSFANCONI ANEMIA AUTOSOMAL RECESSIVE D/OCONGENITAL DEVELOPMENTAL ANOMALIESPROGRESSIVE PANCYTOPENIAINCREASED RISK OF MALIGNANCYMC – TYPE A – FANCA MUTATION
15. FANCONI PIC
16. DYSKERATOSIS CONGENITATELOMERE REPAIR COMPLEXMUCOUS MEMBRANE LEUKOPLAKIADYSTROPHIC NAILSRETICULAR HYPERPIGMENTATIONAPLASTIC ANEMIAX-LINKED – DKC-1AD – TERC, TERT
17. DYSKERATOSIS PIC
18. SHWACHMAN DIAMOND SYNDROMENEUTROPENIAPANCREATIC INSUFFICIENCYMALABSORPTIONSBDS GENE
19. TELOMEROPATHIESTERT GENETERC GENEPHYSICAL ANOMALIESEARLY GRAYING OF HAIRFAMILY H/O – PULMONARY FIBROSIS, HEPATIC CIRRHOSIS
20. PATHOPHYSIOLOGYREPLACEMENT OF BM BY FATBIOPSYMRICD34 BEARING CELLS – GREATLY DIMINISHEDHEMATOPOIETIC CELLSNORMALLY 30-70%REDUCED TO < 25%IN SEVERE DISEASE <1%
21. PATHOPHYSIOLOGYCONSTITUTIONAL GENETIC SYNDROMESCHEMICAL AND DRUG INJURYTOXIC CHEMICALS / RADIATIONIDIOSYNCRATIC REACTIONSSOME DRUGS -HIGHLY REACTING METABOLITESBENZENEIMMUNE MEDIATED STEM CELL DESTRUCTION
22. IMMUNE MEDIATED STEM CELL DESTRUCTION....
23. CLINICAL FEATURESHISTORYABRUPT OR INSIDIOUS ONSETBLEEDING – MC EARLY SYMPTOMTHROMBOCYTOPENIASYMPTOMS OF ANEMIAINFECTION – UNUSUAL – AGRANULOCYTOSISLOOKS GENERALLY GOODPAST HISTORYDRUGS/CHEMICALS/RADIATIONPRECEDING VIRAL ILLNESS
24. FAMILY HISTORYTELOMEROPATHYGATA 2 DEFICIENCY
25. PHYSICAL EXAMINATIONPETECHIAE & ECCHYMOSISPELVIC AND RECTAL EXAMINATIONPALLORCAFÉ AU LAIT SPOTS + SHORT STATURE FANCONI ANEMIAPECULIAR NAILS, LEUKOPLAKIA – DYSKERATOSIS CONGENITAEARLY HAIR GRAYING - TELOMEROPATHIES
26. INVESTIGATIONSPERIPHERAL SMEARLARGE ERYTHROCYTES WITH RAISED MCVREDUCED NO. OF PLATELETES & GRANULOCYTESREDUCED OR ABSENT RETICULOCYTESNORMAL OR REDUCED LYMPHOCYTESDIFFERENTIAL DIAGNOSISIMMATURE MYELOID CELLS – LEUKEMIA / MDSNUCLEATED RBCs – MARROW FIBROSIS OR TUMOR INVASIONABNORMAL PLATELETS – MDS OR PERIPHERAL DESTRUCTION
27. BONE MARROW EXAMINATIONASPIRATION – DILUTE ON SMEARTREPHINE BIOPSY>1CM LENGTH SPECIMENGROSSLY PALEMAINLY FAT, HSC < 25% OF MARROW SPACENO PERFECT CORRELATION BETWEEN MARROW CELLULARITY AND DISEASE SEVERITYD/D DRY TAP – FIBROSIS, MYELOPHTHISISGRANULOMAS – INFECTIVE ETIOLOGY
28. SPECIFIC TESTSCHROMOSOME STUDIESPERIPHERAL SMEARBONE MARROW CELLS +VE IN MDS, -VE IN APLASTIC ANEMIANUCLEOTIDE SEQUENCINGSHORT TELOMERE LENGTH TELOMERASE,SHELTRIN MUTATIONSFLOW CYTOMETRY - PNH
29. SEROLOGIC STUDIESEBVHIVHEPATITIS (SERONEGATIVE)MRI VERTEBRAL FAT CONTENT ASSESSED AA v/s MDS
30. DIAGNOSISAPLASTIC ANEMIA = PANCYTOPENIA + FATTY BONE MARROWDISEASE OF THE YOUNGRULE OUT SECONDARY CAUSESMASSIVE SPLEEN (ALCOHOLIC CIRRHOSIS)HISTORY OF OTHER MALIGNANCY/ METASTASISAUTOIMMUNE DISEASES – SLEMILIARY TB ON CXR
31. ACQUIRED v/s CONSTITUTIONAL BM ASPIRATE MORPHOLOGY IDENTICALEXCEPTION - GATA 2 DEFICIENCY – MEGAKARYOCYTE ATYPIA + FEATURES FAVOURING CONSTITUTIONALFAMILY HISTORYABNORMAL CELL LINESPHYSICAL ANOMALIES
32. APLASTIC ANEMIA V/S HYPOCELLULAR MDS VARIANT DIFFICULT TO DISTINGUISH MDS FAVOURED BY MEGAKARYOCYTES, MYELOID PRECURSORSCYTOGENETIC ABNORMALITIES
33. PROGNOSISRAPID DETERIORATION AND DEATHMAJOR PROGNOSTIC DETERMINANT – BLOOD COUNTSSEVERE DISEASE2 OUT OF 3 PARAMETERSANC < 500/mm3PLATELET COUNT < 20000/mm3ABSOLUTE RETICULOCYTE COUNT < 60000 (CRC < 1%)
34. TREATMENT - IMMUNOSUPPRESSIONANTI THYMOCYTE GLOBULIN + CYCLOSPORINERECOVERY IN 60-70% PATIENTSDOSE : HORSE ATG – 40mg/kg x 4 DAYS AS IV INFUSIONSCYCLOSPORINE – 2mg/kg