Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes Flashcards
Course of aplastic anemia after immunosuppressive Rx
15% may develop MDS heralded by reappearance of pancytopenia
leukemia
hemolysis due to PNH
Phenotype of fanconi anemia patients
short stature
cafe au lait spots
thumb and radii abnormalities
genitourinary tract abnormalities
Time for granulocyte count improvement in aplastic anemia after immunosuppressive Rx
2 months
Anticonvulsants associated with aplastic anemia
hydantoins
carbamazepine
phenacemide
felbamate
In aplastic anemia evidence of replacement of marrow by fat is seen in
BMA
MRI spine
PS in aplastic anemia
large erythrocytes
paucity of platelets and granulocytes
Most common infectious cause of bone marrow failure
Hepatitis
Blood picture in myelofibrosis
anemia is dominant
normochromic,normocytic
Systemic diseases causing pancytopenia with cellular marrow
Systemic lupus erythematosus
Hypersplenism B12, folate deficiency Overwhelming infection Alcohol Brucellosis Sarcoidosis Tuberculosis Leishmaniasis
cytogenetics with good prognosis in MDS
del 5q
del 20q
Late effects of radiation
MDS
Leukemia
Not aplastic anemia
Presentation of eosinophilic fascitis
painful induration of subcutaneous tissue
Hematopoietic cells occupy less than _____ % of marrow space in aplastic anemia
25
severe cases fat is 100%
Mean age of onset of MDS
70 years
Infection as initial manifestation of aplastic anemia
Unusual
Cytogenetic abnormalities associated with MDS
del 5,7,20
trisomy 8(responds to immunosuppressive therapy)
11q23(topoisomerase inhibitors)
t(5;12)CMML
Infectious cause of marrow fibrosis
Mycobacteria
fungi
HIV
PS: Nucleated RBCs with pancytopenia
Marrow fibrosis
tumor invasion of marrow
Shwachman-Diamond syndrome
Marrow failure
pancreatic insufficiency leading to malabsorption
Bone marrow in MDS
hypercellular or normal
20%-hypocellular
ringed sideroblasts in erythroid lineage
megaloblastic nuclei with defective hemoglobinisation
increase in myeloblasts
granulocytic precursor and megakaryocyte abnormalities
Monoclonal antibody is useful in MDS pts with which characteristics
young(
favourable IPSS
HLA-DR15
MCV in aplastic anemia
Increased
Skin and joint symptoms of parvo virus infection are due to
immune complex deposition
Which is more common in MDS? aneuploidy or translocations
Aneuploidy
MDS blood studies
Anemia alone or as a part of bi/pancytopenia
isolated thrombocytopenia/granulocytopenia is rare
macrocytes
dimorphic anemia
Platelets are large and lack granules
Total WBC count is normal or low
Neutrophils are hypogranulated,ringed or hyposegmented nuclei
poor prognostic factors in MDS
Therapy related MDS
worsening of pancytopenia
acquisition of new chromosomal abnormalities (chromosome 7 abnormalities)
increase in the number of blasts
marrow fibrosis
peripheral smear in myelofibrosis
leukoerythroblastosis
nucleated RBC,tear drop
leukemoid reaction like picture
abundant,giant platelets
Phenotype of dyskeratosis congenita
mucous membrane leukoplakia
dystrophic nails
reticular hyperpigmentation
Family history suggestive of constitutive etiology of aplastic anemia
hematologic disorders
pulmonary or hepatic fibrosis
myelophthisis
secondary myelofibrosis
Immune diseases causing aplastic anemia
Eosinophilic fasciitis
Hyperimmunoglobulinemia
Thymoma/thymic carcinoma
Graft-versus-host disease in immunodeficiency
Mutation in PNH
PIG-A
Treatment of persistent B19 infection
Intravenous immunoglobulin therapy (e.g., 0.4 g/kg daily for 5 days)
Connective tissue disorders with PRCA
SLE
RA
JRA
Cytopathic sign of parvovirus B19 infection
Giant pronormoblast
Bone marrow failure states
aplastic anemia, myelodysplastic syndrome (MDS), pure red cell aplasia (PRCA), and myelophthisis
Etiology of most cases of aplastic anemia
idiopathic
congenital thrombocytopenia
Amegakaryocytic thrombocytopenia
Thrombocytopenia with absent radii
Presentation of hepatits induced pancytopenia
young men
hepatits due to non-A, non-B, non-C cause 1-2 months earlier
Dry tap with pancytopenia
Myelofibrosis
Myelophthisis
Drugs causing PRCA
phenytoin, azathioprine, chloramphenicol, procainamide, isoniazid,erythropoietin
Diagnosis of parvovirus infection
Detection of viral DNA sequences in the blood (IgG and IgM antibodies are commonly absent)
Management of anemia in aplastic anemia
2 units every 2 weeks
deferoxamine and deferasirox at fiftieth transfusion
Target Hb: 7 g/dl(9 g/dl if underlying cardiac or pulmonary disease is present)
MDS
cytopenia with dysmorphic and usually cellular marrow
Role of lenalidomide in MDS
Reverses anemia in MDS patients with 5q deletion