Section 12: WBC anomalies/Lipid Storage Disease Flashcards
Define Pelger-Huet Anomaly
benign congenital hyposegmentation of PMNs (include in the diff)
no granulocytes with >2 nuclear lobes pince-nez and stodtmeister (increased bands)
Identify the anomaly:
pelger-huet anomaly
Identify these anomalies:
pelger-huets
Define Alder-Reilly inclusions/anomalies
Hematological manifestation of inherited recessive disorder, def in enzymes to breakdown mucopolysaccharides in WBC
May look like toxic granulation
What are some diseases associated with Alder-Reilley inclusions?
Hurlers syndrome, hunters syndrome, and other gargoylisms hehe
Many pt die before 10yrs
Hunters hurl things at gargoyles cuz they stole the hunters’ mucopolysaccharides
Identify this cell
Alder-Reilley
Identify this inclusion on an Alder-Reilley cell
Hurler’s anomaly
Define Chediak-Higashi Syndrome
- Rare auto recessive disorder characterized by GIANT lysosomes in most cells
- Decreased PLT with large granules/defective function
- Increased sus. to infections/bleeding lead to short life
Identify the cell
Chediak-Higashi
Identify the Cell
Chediak-Higashi, note the Massive lysosome inside the cytoplasm
Define May-Hegglin Anomaly
- rare auto Dominant condition
- Dohle like bodies (ppt myosin heavy chains) and PLT decreased (giant bizarre forms)
- Usually asympt but at risk for infections/bleeding doesnt usually lead to early death :)
ID the cell
May-Hegglin how is this not a dohle body
Define Chronic Granulomatous Disease
PMN’s can phago bacteria but defective in the enzyme NADPH oxidase, so can’t kill the bacteria (specifically staphylocci)
Macrophage rich granulomas can obstruct organs
How do you diagnose CGD? What happens if it goes untreated?
- Diagnosis: With nitroblue tetrazolium test or flow cytometry (yeah dog, we got flow)
- Untreated: pt usually die from bacteria/fungi from 5-7 yrs old (skill issue)
CGD advances in treatment: what percentage of people now survive from the disease? What is used for treatment?
- 90% survival well into adulthood
- prophylactic Ab/antifungal, BM transplant
Define: MPO Myeloperoxidase Deficiency
PMN’s have decreased myeloperoxidase enzymes resulting in delayed bacterial killing caused by gene mutations.
Relatively mild in most pt
Define Diabetes mellitus associated dysfunction
- poor neutrophil function
- high glucose levels result in abnormal oxidative burst
Define LAD leukocyte Adhesion Disorders
- Inability of neutrophils and macrophages to adhere to endothelial cells and migrate from blood to tissues caused by gene mutation
- Increased potentially lethal bacterial infections
Define Lazy Leukocyte Syndrome
cells have poor direction and random movement bc can’t respond to chemotactic factors, pt have hx of recurrent infections
Define Hairy Cell Leukemia
few to many “hairy’ cytoplasmic projections on lymph
Confused cell- B lymph origin but has features of monocytes
ID this cell
hairy cell leukemia
Hairy Cell Leukemia Lab findings include:
- splenomegaly
- mod-sev pancytopenia (wbc less than 4,000/mm3)
- often “dry tap”
- TRAP positive
Define Sezary Syndrome
Malignant cells that appear as mature lymphs with convoluted, cerebriform nuclear folds
ID this cell
Sezary Cells
Define Gaucher’s Disease and cellular appearance of macrophages
- Inability to degrade glucocerebroside leads to accumulation in macro/monocytes
- 1 in 17 Ashkenazi jews are carriers
- Cell Appearance: crumbled silk, striated chicken scratch..
What is the deficient enzyme in Gaucher’s Disease?
Beta-glucocerebrosidase
ID the cell
Gauchers disease cell (scratchy and silky)
Define Niemann-Pick Disease and cellular appearance
- Inability to degrade sphingomyelin = accumulation in spleen, liver, lungs, brain BM
- Deficient enzyme - sphingomyelinase
- Appearance: foamy cell/bubbly
ID this cell
Neimann-Pick cell
Define Tay-Sachs Disease
Deficient Enzyme
Cellular Appearance
- Accum of unmetabolized ganglioside in almost all tissues, normal at birth but at 6mos physical and mental deterioration (death by 4yrs)
- Def Enzyme: Hexosaminidase A
- Cell Appearance: vacuolated lymphs not diagnostic
ID this cell
Tay-Sachs
Toxic granulation and Alder-Reilly bodies look indistinguishable from each other, but they have different causes. What are their respective causes?
Toxic granulation: severe infection, toxicity, or inflammation
Alder-Reilly bodies: build up of mucopolysaccharides due to enzyme deficiency
Toxic vacuolation, Niemann-pick cells, and the vacuoles in Tay-Sach’s disease look similar, but occur in different cell types. What are their respective cell types?
Toxic vacuolation: PMNs and monocytes
Niemann-Pick: macrophages
Tay-Sach’s: lymphocytes
Döhle bodies and May-Hegglin inclusions look the same but have a slight difference. What is this difference?
May-Hegglin inclusions may be accompanied by surrounding giant/abnormally shaped platelets. May-Hegglin inclusions are precipitated myosin heavy chains while Dohle bodies are remnant RNA
