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Compendium Hematopathology > Quantitative blood cell disorders > Flashcards

Quantitative blood cell disorders Flashcards

1
Q

Manifestations of iron deficiency in the blood, marrow, and chemistries

A
  • Blood
    • microcytosis
    • hypochromia (decreased MCH)
    • anemia
    • anisocytosis (increased RDW) greater than 17 often (unlike anemia of chronic disease and thalassemias)
    • poikilocytosis (pencil cells aka elliptocytes and prekeratocytes)
    • thrombocytosis
    • target cells (like thalassemias, unlike anemia of chronic disease)
  • Marrow
    • decreased iron stores
    • mild erythroid hyperplasia
  • Chemistries
    • increased zinc protoporphyrin (ZPP) and free erythrocyte protoporphyrin (FEP) (also elevated in lead poisoning and anemia of chronic disease)
    • decreased iron
    • increased TIBC
    • decreased iron saturation
    • decreased ferritin (single best test to make the diagnosis, but is an acute phase reactant and may be elevated in hepatic insufficiency)
    • increased serum soluble transferrin receptor (SSTR) (also elevated in erythroid hyperplasia caused by hemolytic anemia, hemorrhage, or polycythemia)
    • iron deficiency anemia
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2
Q

Folate biology

A
  • Cofactor in methyl transfer reactions (conversion of dUMP to dTMP in DNA synthesis)
  • Folate deficiency leads to impaired DNA synthesis
  • Main source is green vegetables
  • Absorbed in proximal small bowel
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3
Q

B12 biology

A
  • Cofactor in formation of active THF
  • Deficiency leads to accumulation of inactive form, methyl folate (“methyl folate trap”)
  • Main source is animal products
  • Bound to R factor in the stomach, released from R factor in the duodenum by pancreatic enzymes, and bound to gastric derived IF
  • IF bound B12 is absorbed in the ileum
  • Bound to transcobalamin I and II (TCI and TCII) in enterocytes
  • Exported to bloodstream
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4
Q

Diagnosis of folate deficiency

A
  • Serum or red blood cell folate
  • One to several balanced meals can normalize serum folate; red blood cell folate more stable
  • B12 deficiency can produce falsely low RBC folate but does not affect serum folate
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5
Q

Diagnosis of B12 deficiency

A
  • Documentation of B12 deficiency with serum B12 level
    • HIV infection causes falsely low B12 level
    • MPNs, hepatic insufficiency, and renal insufficiency cause falsely elevated B12
    • Serum MMA and/or plasma total homocysteine may be useful adjuncts (both are elevated in mild B12 deficiency)
  • Schilling test no longer used
  • Antiintrisic factor antibody is a sensitive and specific marker of pernicious anemia
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6
Q

Anemia of chronic disease

  • smear
  • associated with
  • labs
A
  • Systemic inflammation alters marrow iron utilization
  • Mild hyporegenerative anemia, usually normocytic and normochromic, but can be microcytic
  • Most common cause of anemia in hospitalized patients
  • Associated with
    • rheumatoid arthritis
    • collagen vascular disease
    • chronic infection (e.g., osteomyelitis, bronchiectasis)
    • malignancy
  • Labs
    • normal to decreased iron
    • normal to decreased TIBC
    • Transferrin saturation > 15%
    • SSTR normal
    • normal to increased ferritin
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7
Q

Sideroblastic anemia

  • smear and bone marrow show
  • labs
  • acquired versus inherited forms
A
  • Peripheral blood
    • Anemia
    • Hypochromic red cells that may be microcytic, normocytic, or macrocytic
    • May have bimodal red cell volume distribution
    • Basophilic stippling may be noted, attributable to iron containing Pappenheimer bodies
  • Marrow
    • Ringed sideroblasts
    • Increased iron stores
    • Erythroid hyperplasia
  • Labs
    • Increased serum iron
    • Increased transferrin saturation
    • Increased ferritin
  • Sideroblastic anemia may be acquired or inherited
    • Acquired forms
      • clonal stem cell defect (MDS refractory anemia with ringed sideroblasts)
      • medications
        • isoniazid
        • chloramphenicol
        • chemotherapy
      • irradiation
      • copper deficiency
      • alcohol abuse
    • Inherited forms are rare and usually have X linked recessive inheritance
      • some cases can be overcome with large doses of pyridoxine (B6)
      • responsible gene is most often ALAS2 on X chromosome
      • Pearson syndrome
        • sideroblastic anemia with pancreatic insufficiency
        • molecular defect is microdeletion in mitochondrial DNA
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8
Q

Congenital dyserythropoietic anemia (CDA)

  • types and labs
A
  • CDA Type II (HEMPAS) is most common form
    • recessive
    • multinucleate erythroid precursors
    • positive acidified serum test
  • CDA I: dysplastic erythroid precurors with frequent internuclear bridges
  • High density of the I antigen and i antigen
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9
Q

Fanconi anemia

  • inheritance pattern
  • clinical and lab findings
  • mutations
  • geographic distribution
  • screening test
A
  • Autosomal recessive chromosomal breaks
  • Findings
    1. Aplastic anemia
    2. Myelodysplasia
    3. AML
    4. macrocytic anemia or thrombocytopenia in isolation before pancytopenia emerges
    5. increased incidence of epithelial malignancies, including cutaneous, hepatocellular, and gastric
    6. absent thumbs or radii
    7. microcephaly
    8. renal anomalies
    9. short stature
    10. cafe au lait spots
    11. elevated HbF
  • Mutations
    • FANCA (16q)
    • FANCC (9q)
    • FANCG (9p)
  • High incidence in white South Africans
  • Screening test is based upon known hypersensitivity of FA cells to DNA crosslinking agents (mitomycin C, diepoxy butane, cisplatin)
    • cells grown in culture are exposed to one of the these agents and their metaphase spreads examined
    • increased chromosomal breaks, gaps, radials, and rearrangements
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10
Q

Pure red cell aplasia (PRCA)

  • acquired versus congenital
  • mimicker
A
  • Acquired or congenital
    • congenital PRCA (Blackman Diamond syndrome) - DBA1/RPS19 (19q), autosomal dominant
      • marrow erythroid precursors are sparse or absent
      • the I antigen is overexpressed on red cells
      • erythrocyte adenosine deaminase (ADA) is increased
      • HbF is increased
      • cardiac septal defects
      • short stature
      • thumb and radial anomalies
      • 75% respond to steroids
    • Acquired PRCA
      • thymoma (especially spindle cell/medullary/type A)
      • collagen vascular disease
      • lymphoproliferative disorders of large granular lymphocytes
      • medications
  • Transient erythrocytopenia of childhood (TEC) is self limiting disorder arising in previously healthy children ages 1-4 years
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11
Q

Congenital amegakaryocytic thrombocytopenia (CAMT)

A

CMPL (1p34)

  • autosomal recessive
  • neonates
  • initially thrombocytopenic
  • thumb and radial anomalies
  • absence of megs in the marrow
  • progressive thrombocytopenia proceeds to pancytopenia by the 2nd decade of life
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12
Q

Congenital neutropenia (Kostmann syndrome) and cyclic neutropenia

  • mutations
  • presentations
  • other causes of inherited neutropenia
A
  • Kostmann (ELA2, 19p)
    • autosomal dominant
    • initially neutropenia, uncommonly progresses to aplastic anemia and/or leukemia
  • Cyclic neutropenia (familial neutropenia)
    • also caused by ELA2 (neutrophil elastase) mutations
    • intervals of fever, often with sites of inflammation such as oral ulcers
    • cycle lasts 21 days and neutrophil count varies from normal to almost none
  • neutropenia presents with recurrent fever, cervical LAD, oral ulcers, gingivitis, sinusitis, pharyngitis
  • Many inherited forms of neutropenia
    1. Kostmann
    2. cyclic
    3. myelokathexis (WHIM syndrome)
    4. Chediak-Higashi
    5. reticular dysgenesis
    6. Shwachman-Diamond syndrome
    7. glycogen storage disease type 1b
    8. barth syndrome
    9. dyskeratosis congenita
    10. CVID
    11. Hyper IgM syndrome
    12. Hyper IgE syndrome
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13
Q

Aplastic anemia causes

A
  • 70% idiopathic
  • 10% medication or toxin related
  • 5% from virus (e.g., HCV)
  • Germline causes
    • Fanconi anemia
    • Diamond-Blackfan syndrome
    • Dyskeratosis congenita
    • Kostmann syndrome
    • Congenital amegakaryocytic thrombocytopenia (CAMT)
    • Shwachman-Diamond syndrome
    • Down syndrome
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14
Q

Mimickers of aplastic anemia

A
  • PNH
  • Hairy cell leukemia
  • T cytotoxic LGL leukemia
  • Hypoplastic MDS
  • Hypoplastic AML
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15
Q

Dyskeratosis congenita

A
  • DKC1 (Xq28)
  • TERC
  • X linked recessive
  • nail dystrophy
  • reticulated skin pigmentation
  • oral leukoplakia
  • lacrimal duct atresia
  • testicular atrophy
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16
Q

Differential for intravascular hemolysis

A
  1. MAHA
  2. Mechanical
  3. Toxins (e.g., venoms)
  4. Infections (e.g., malaria, Clostridium)
  5. oxidant stress (e.g., G6PD)
  6. HTR
  7. PNH
  8. PCH
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17
Q

Lab comparison in intravascular versus extravascular hemolysis

A
  • Intravascular
    • increased LD
    • decreased haptoglobin
    • increased free Hb and urine Hb
    • hemosiderinuria
  • Extravascular
    • increased LD
    • normal to decreased haptoglobin
    • increased indirect bilirubin
    • increased urine and fecal urobilinogen
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18
Q

Differential for erythrocytosis

A
  • MPN
  • Reactive
    • hypoxia
      • lung disease
      • smoking
      • high altitude
    • high oxygen affinity hemoglobins
    • EPO secreting neoplasms
      • RCC
      • cerebellar hemangioblastoma
      • uterine leiomyoma
      • HCC
  • Spurious erythrocytosis of dehydration (Gaisbock syndrome)
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19
Q

Reactive neutrophilia

A
  • usually < 30 x 103/uL
  • often accompanied by toxic granulation, Dohle bodies, and cytoplasmic vacuoles
  • bands and metas
  • Causes
    • infection
    • meds
      • epinephrine
      • steroids
      • GM-CSF
    • trauma
    • burns
    • collagen vascular disease
    • gout
    • seizure
    • exercise
    • postsplenectomy
    • leukocyte adhesion defect
    • pregnancy
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20
Q

Reactive lymphocytosis

A
  • Infectious monocytosis
    • EBV, CMV, HIV, and toxoplasmosis
    • increased T lymphs (in EBV the B cells are infected, but the T cells are increased)
  • Transient stress lymphocytosis
    • proliferation of reactive T cells, B cells, and Nk cells with no change in proportions
    • Predominant cell type has a small, indented, eccentric nucleus
    • may have cytoplasmic granulation
  • Syndrome of persistent polyclonal B lymphocytosis
    • young adult women who smoke
    • indented to bilobed nuclei and abundant pale staining cytoplasm
    • polyclonal IgM increase
    • no cytopenias
    • HLA-DR7+
  • Reactive lymphocytosis in kids sometimes consists of small mature lymphs with clefted nuclei (Reider cells), associated with pertussis
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21
Q

Absolute lymphocytosis in adults should be concerning for?

A

neoplasm

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22
Q

Reactive monocytosis

A
  • collagen vascular diseases
  • chronic infection (e.g., listeria or TB)
  • malignancy
  • neutropenia
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23
Q

Reactive eosinophilia

A
  • Allergies
  • Helminths
  • Collagen vascular disease
  • reaction to malignancy (T cell neoplasm, Hodkins, colon ca)
  • IBD
  • GM-CSF therapy
  • Syndromes
    • eosinophilic cellulitis (Well syndrome)
    • eosinophilic pneumonia (Loeffler syndrome)
    • eosinophilic fasciitis (Shulman syndrome)
    • eosinophilic vasculitis (Churg-Strauss syndrome)
  • IL-5 stimulates eosinophil lineage
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24
Q

Neutropenia (agranulocytosis)

A
  • Medication
    • antithyroidals (methimazole, PTU, carbimazole)
    • abx (PCN, chloramphenicol, sulfasalazine)
    • anticonvulsants (valproate, carbamazepine)
    • procainamide
  • Autoimmune
    • lupus or RA
      • Felty syndrome: RA + splenomegaly + neutropenia
    • in infants usually idiopathic
  • Splenomegaly
  • Infection
    • Typhoid
    • brucella
    • tularemia
    • rickettsia
    • sepsis in neonates, elderly
  • Decreased production
    • LGL leukemia
    • constitutional neutropenias
    • medications
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25
Q

Lymphopenia

A
  • SLE
  • HIV
  • SARS
  • Rituxan
  • steroids
  • Bruton
  • SCID
  • DiGeorge
  • CVID
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26
Q

Monocytopenia

A
  • Hairy cell leukemia or steroid therapy
  • In patients getting chemo, monocytopenia heralds the onset of neutropenia
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27
Q

pseudothrombocytopenia

A
  • platelet satellitosis/clumping will lead to decreased platelet count
  • caused by EDTA artifact
  • need to recollect in citrate or acid-citrate-dextrose (ACD)
28
Q

Large platelets are seen in

A
  • Bernard Soulier
  • may Hegglin
  • ITP
29
Q

Small platelets seen in

A

Glanzmann

Wiskott-Aldrich syndrome

CAMT syndrome

TAR syndrome

30
Q

Causes of thromboyctopenia in neonates

A
  • infection induced bone marrow suppression (TORCH)
  • NAIT
  • maternal ITP (passive transfer of antibodies)
  • inherited
    • small platelets
      • Wiskott-Aldrich syndrome
      • CAMT syndrome
      • TAR syndrome
    • giant platelets
      • MYH9 syndromes
        • May-Hegglin
        • Sebastian
        • Fechtner
        • Epstein
      • Bernard Soulier
      • DiGeorge syndrome
      • Gray platelet syndrome
      • X linked macrothrombocytopenia
      • Mediterranean macrothrombocytopenia
  • Chromosomal
    • trisomy 18
    • trisomy 13
    • trisomy 21
31
Q

Causes of thrombocytopenia in children

A
  • ITP
    • rapid response to steroids
  • poor response to steroids but good response to transfused platelets consistent with inherited syndrome
32
Q

Causes of thrombocytopenia in adults

A
  • ITP
    • autoantibodies against GPIIB, GPIIIs, GPIb, or GPV
    • diagnosis supported by increased platelet surface Ig
    • best test: response to immunomodulation
  • Drug
    • abx
    • alcohol
    • antiarrhythmics
    • thiazides
    • abciximab
    • quinidine - autoantibody against GPIX in GPIb/V/IX complex
    • heparin
  • Hypersplenism
  • Antiphospholipid syndrome
  • B cell neoplasm
  • HIV
  • HCV
  • H pylori
  • TTP
  • myelodysplasia
33
Q

TTP
- criteria

  • sporadic vs familial
  • treatment
A
  • Labs and symptoms
    • increased LD
    • MAHA
    • thrombocytopenia
    • renal dysfunction
    • fever
    • neurological changes
  • Sporadic
    • pregnancy or ticlopidine
    • may be related to anti ADAMTS-13 antibodies
  • Familial - inherited deficiency of ADAMTS-13
  • Treatment: daily PLEX with FFP as replacement fluid
  • Platelet transfusions contraindicated
34
Q

Reactive thrombocytosis (kids, adults)

A
  • Childhood thrombocytosis almost always reactive
    • infection
    • kawasaki
    • iron deficiency
    • malignancy (ALL)
  • Adults
    • systemic inflammation
    • malignancy
    • splenectomy
35
Q

Percentage of MPN when platelet count is 2 million, 1 million, or 600,000

A

2 million - 95%

1 million - 80%

600,000 - 70%

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Compendium Hematopathology (8 decks)

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