Lecture 5-Aplastic Anemia and Bone Marrow Failure Syndromes.pdf

Lecture 5-Aplastic Anemia and Bone Marrow Failure Syndromes.pdf

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Aplastic Anemia & Other Bone Marrow Failure Disorders Chuanyi Mark Lu, MD PhD Faculty, Department of Biology, SFSU Professor, Department of Laboratory Medicine, UCSF Hematopathologist, UCSFMC and SF VAMC
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Aplastic Anemia
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Aplastic Anemia Definition Failure to produce normal hematopoietic cells (1) Multiple blood cytopenias with trilineage bone marrow hypoplasia AND (2) Absence of neoplasia and marrow fibrosis Diagnostic criteria: (1) Markedly hypoplastic marrow (<25% of age appropriate cellularity) AND (2) At least 2 blood cytopenias: Neutrophils <500/uL; Platelets <20,000/uL; Reticulocyte count <20,000/uL (or corrected retic count <1%)
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Major Causes of Aplastic Anemia I Acquired (>95%) A. Idiopathic/primary (cause unknown): 40-70% B. Immune mediated: autoimmune, drug-induced autoantibodies C. Chemical agents Alkylating agents (chemotherapy drugs) Antimetabolites (chemotherapy drugs) Benzene, insecticides, weed killers (toxins) Chloramphenicol, penicillin, tetracycline, sulfonamides (antibiotics) Inorganic arsenicals Phenylbutazone, Organic arsenicals Methylphenylethylhydantoin, Streptomycin Chlorpromazine D. Physical agents (e.g. whole-body irradiation) E. Viral infections (Hepatitis, CMV, EBV, Herpes varicella-zoster) F. Pregnancy, malnutrition, immunological dysfunction II Hereditary/Congenital (<5%) Fanconi anemia (AR); Shwachman-Bodian-Diamond syndrome (AR), Dyskeratosis congenita (X-linked R)
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Aplastic Anemia (Peripheral Blood) Normal Pancytopenic
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Differential Diagnosis for Pancytopenia Infiltration of the bone marrow Tumors: leukemias, lymphomas, metastatic disease; Myelofibrosis; Infections: mycobacteria, fungi; Others: sarcoidosis, storage isorders (e.g., Gaucher’s) Inhibition of hematopoiesis or ineffective hematopoiesis Myelodysplasia or PNH; Vitamin B12 or folate deficiency; Myelosuppressive drugs Increased splenic activity (hyperspleism) Congestion; Splenic infiltrative disorders (Gaucher’s, Niemann Pick); Infections; Primary hypersplenism • Aplastic anemia
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