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55 Cards in this Set
- Front
- Back
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aplastic anemias
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inherited
-fanconis -dyskeratosis congenita acquired -idiopathic -secondary: drugs, chemical exposures, viruses (EBV, hepatitis, HIV, PVB19) -paroxysmal noctural hemoglobinuria |
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pure red cell aplasia
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congenital
-diamond-blackfan anemia -schwann-diamond -congenital dysertyhropoeitic acquired -primary - idopathic, autoimmune -secondary - malignancy, infection, chronic hemolytic anemia, drugs, chemicals myelophythisic anemia |
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too many erythrocytes
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polycythemia vera
chronic myelotic leukemia (myeloid), chronic idiopathic myelofibrosis (fibrosis), essential thrombocythemia (platelets) |
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bone marrow dysplastic/neoplastic disorders
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myelodysplastic syndromes
WHO classification of MDS acute erythroid leukemia -acute erythroleukemia -pure erythroid leukemia |
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characteristics of aplastic anemias
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-peripheral blood pancytopenia and reticulocytopenia
-BM hypocellularity -depletion of hematopoeitic SCs |
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classification of aplastic anemias
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NSAA
SAA VSAA: BM <25%, retics <20x10^9, neutros <0.2x10^9, platelets <20,000 |
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tx of aplastic anemia
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ATG
cyclosporin A steroids antiTNF-alpha antiIL2 antiCD52 granulocyte colony stimulating factor transfusion BM transplant |
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Fanconi's anemia:
inheritance |
AR
1/100-350000 live births |
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Fanconi's anemia:
molecular |
multiple mutated geners identified in proteins involved in REPAIR of DNA DAMAGE
-inc chromosome breaks, gaps, rearrangements, and endoreduplication |
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Fanconi's anemia:
signs and symptoms |
-inheritied BM failure syndrome
-progressive lethal anemia and hypoplastic marrow -skin pigmentation, renal hypoplasia, absent or hypoplastic thumbs or radii, short stature |
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Fanconi's anemia:
assoc with what other conditions |
MDS, AML, hepatocellular adenoma
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Fanconi's anemia:
dx |
chromosome instability test
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Fanconi's anemia:
tx |
androgens
GCSF SC transplant surivial: 7 years |
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dyskeratosis congenita:
inheritance |
RARE
x-linked: DKC1 - dyskeratin: protein involved in rRNA processing and is part of telomerase complex AD: telomerase RNA gene (TERC) mutation, critically short telomeres |
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dyskeratosis congenita:
signs and symptoms |
-progressive loss of hematopoeitic renewal
-leukoplakia of mucous membranes -nail dystrophy -skin pigmentation changes -hoyeraal-hreidarsson syndrome:severe variant with AA, immunodef, microcephaly, Cb hypoplasia, growth retardation |
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dyskeratosis congenita:
tx |
androgens
G-CSF erythropoeitin BM transplant |
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meds that can cause dose-related AA
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cytotoxic drugs
radiation -usually recover once drug is stopped |
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meds that can cause idiopathic secondary AA
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gold
ABs anti-inflamm anti-convulsatns anti-diabetics -not dose related -genetic predisposition -BM does not recover |
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chemicals that cause dose-dependent secondary AA
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benzene
idio: pesticides, lube, oils |
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viruses causing secondary AA
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EBV
hep HIV PV B19 |
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PNH
-affects -inheritance |
only acquired hemolytic anemia
neoplasm (Stem cell mutation) -affecting WBCs, RBCs, and platelets -mutation of chrom X - PIGA gene |
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PNH: molecular
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-prevents assembly of glycosylphosphatidyl (GPI) anchor
-necessary for surface attachment of some Prs including C' inhibitors -RBCs are fragile -destroyed by normal C' because they don't have inhibitors on their surface |
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PNH:
symptoms |
hemolysis
hemosiderinuria iron in urine sediment and renal tubular epithelial cells thrombosis and thrombocytopenia |
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PNH affects can be seen in what organs
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brain
hepatic portal system hepatic veins (budd chiari) |
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dx of PNH
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RBC:
dec in CD55 (decay acceleration factor) dec in CD59 (membrane inhibitor of reactive lysis) older tests: hemociderin in urine sucrose hemolysis ham acidified |
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tx of PNH
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transfusions, ABs, anticoAgs, BM transplant
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PRCA:
general info |
RARE
selective and severe dec in RBC precursors in BM -severe anemia and reticulocytopenia -BM, WBC, platelets nL |
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diamond-blackfan anemia:
molecular |
RPS19 and RPS24 mutations
-small ribosomal proteins |
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diamond-blackfan anemia:
signs and symptoms |
upper limb, head, urogential, CV anomalies
-pallor, short stature, hepatomegaly, triphalangeal thumbs, erythroprecursor dec so myeloid is overrepresented |
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diamond-blackfan anemia:
lab findings |
macrocytic anemia
elevated HbF inc EPO level inc RBC adenosine deaminase |
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tx of diamond-blackfan anemia
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corticosteroids
RBC transfusions iron chelation metoclopramide (DA antag that ince prolactin release that stimulates EPOiesis) -sc transplantation |
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what is shwachman-diamond
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exocrine pancreas dysfunction
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shwachman-diamond:
signs and symptoms |
-short stature
-variable abnl: pancytopenia, inc HbF, myeloproliferative -abn: ribs, thorax, teeth, metaphyses, long bones -psychomotor delay, renal abnL, icthyosis, hirschsprung, hepatomegaly |
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CDA cellular findings
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internuclear chromatin binding
multinuclearity of nRBC -gene mutation each on a different chromosome for type 1-3 |
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CDA:
signs and symptoms |
refractory anemia
dec retics hypercellular BM with ineffective erythropoeisis (gigantic RBC precursors, multinuclear nRBCS, karyorrhexis) |
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CDA
type 1 |
abnL of digits, skin pigmentation, neuro defects
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CDA
type 2 |
most common
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myelophthisic anemia:
signs and symptoms |
-infiltration of BM by abnL cells (solid tumor, leukemic cells, infectious organisms with granulomas)
-release of cytokines and growth factors that enhance the abnL cells and dec hematopoeitic cells -mild to moderate anemia, normocytic, tear drop RBCs, leukoerythroblastic, immature myeloids -megakaryoctye fragmentation (rare) |
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MPD details
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inc BM cellularity
nL or slightly higher BMblasts nL maturation and morphology PB with inc in one or more cell lines organomegaly |
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PV findings
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inc RBC production
inc myeloid precursors |
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2 phases of PV
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prolif phase (inc RBC mass)
spent phase (BM fibrosis, extramed hematopoeisis, hypersplenism) |
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PV:
symptoms |
-plethoric facies
-itchy after hot shower -erythromelalgia -hyperviscosity sundrome CNS: headache, dizziness, nystagmus, hearing loss, coma, seizures, sausage like beading in retinal vv, visual impairment systemic: mucusoal hemorrhage, heart failure, renal failure |
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tx for PV
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-phleb for high Hct (hyperviscosity syndrome)
i.e. hemorrhagic retinopathy |
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dx of PV:
major |
inc RBC mass >25% over nL
Hb >18 men, >16 women clonal abnL: Jak 2 (V617F) mutation Val-Phe at 617 codon - for phil chromosome (cML) |
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dx of PV:
minor |
hypercellular BM with panmyelosis
-elevated WBC and or platelets -low serum EPO -endogenous erythroid colony formation |
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MDSs result in
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ineffective blood cell production (inc destruction/apoptosis)
dysplastic cells produced (abnL) |
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cellular findings in dyserythropoeisis
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-nuclear fragments
-multinucleated RBCs -nuclear budding and abnL shapes -oval macs -ringed sideroblasts |
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MDS classification
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-cytopenia and dysplasia in various cell lines
-% of blasts in blood and BM -% of ringed sideros -absolute # of monos -cytogenic abnL |
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WHO classification of MDS
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-refractory anemia with unilinegaed dysplasia
-refractory anemia with ringed sideros -refractory cytopenia w/ multilineage dysplasia -refractory anemia w/ excess blasts: type 1: 5-9%, type 2: 10-19%) -MDS with isolated del (5q) |
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MDS survival/deaths
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primary: 1-10 years
therapy related: 10 months 50-80% progress to AML -death due to AML or severe cytopenias (bleeding, infection, anemia) |
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tx of MDS
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transfusion
steroids chemo BM transplant |
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acute erythroid leukemia types
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acute erythroleukemia (AML M6)
pure erythoid leukemia |
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AEL
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form of AML
poor prognosis both are rare but 2nd is rarer |
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AML M6
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>50% of nucleated cells in BM are RBC precursors
>20% of non-erythroid cells are myeloblasts |
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pure erythroid leukemia
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>80% of nucleated cells in BM are immature RBC precursors (erythroblasts) - no abnL inc in myeloblasts
dysplastic megaloblastic in RBCs |
