WBC ANOMALIES Flashcards
Niemann-Pick Disease (NPD) is caused by a deficiency in what enzyme?
Sphingomyelinase
Niemann-Pick Disease (NPD) inheritance pattern?
Autosomal recessive
Niemann-Pick Disease (NPD) is more common in which population?
Ashkenazi Jews
Niemann-Pick Disease (NPD) affects which organs significantly?
Spleen and liver
Characteristic cell in Niemann-Pick Disease (NPD)?
Pick’s cell (Foam cell)
Description of Pick’s cell cytoplasm?
Swollen by many small lipid droplets
Life expectancy in Niemann-Pick Disease (NPD)?
Often fatal by three years of age
Gaucher Disease is caused by a defect or deficiency in what enzyme?
β-glucocerebrosidase
Most common lipidosis?
Gaucher Disease
Inheritance pattern of Gaucher Disease?
Autosomal recessive
Characteristic cell in Gaucher Disease?
Gaucher Cell
Features of Gaucher Cell cytoplasm?
Distended by glucocerebrosides
Where is the Gaucher Cell typically found?
Bone marrow
Description of Gaucher Cell nucleus?
Small, eccentric nucleus
Conditions where pseudo-Gaucher cells may be encountered?
Thalassemia, chronic myeloid leukemia, acute lymphoblastic leukemia, Non-Hodgkin lymphoma, plasma cell neoplasms
Inheritance pattern of Chediak-Higashi syndrome?
Autosomal recessive
Key feature of Chediak-Higashi syndrome in phagocytes?
Large, abnormal cytoplasmic granules
Granules in phagocytes (granulocytes and monocytes) in Chediak-Higashi syndrome are positive for what enzyme?
Peroxidase
Granules in lymphocytes in Chediak-Higashi syndrome are positive or negative for peroxidase?
Peroxidase (-)
What type of organelles are abnormally large in Chediak-Higashi syndrome?
Lysosomes
Reason for partial albinism in Chediak-Higashi syndrome?
Abnormal packaging of melanosomes
Physical characteristics associated with partial albinism in Chediak-Higashi syndrome?
Silvery hair, pale skin, photophobia
Triad of symptoms in Wiskott-Aldrich Syndrome (WAS)?
Thrombocytopenia, Immunodeficiency, Eczema
Inheritance pattern of Wiskott-Aldrich Syndrome (WAS)?
X-linked recessive
What are the dysfunctional cells in Wiskott-Aldrich Syndrome (WAS)?
B cells, T cells, NK cells, neutrophils, and monocytes
Type of infections common in Wiskott-Aldrich Syndrome (WAS)?
Bacterial, viral, and fungal infections
Structural abnormalities in Wiskott-Aldrich thrombocytes?
Low number of dense granules and small size (microthrombocytes)
May-Hegglin Anomaly inheritance pattern?
Autosomal dominant
Key cytoplasmic feature of granulocytes and monocytes in May-Hegglin Anomaly?
Gray-blue spindle-shaped inclusions (Döhle body-like inclusions)
Hematologic findings in May-Hegglin Anomaly?
Leukopenia, variable thrombocytopenia, and giant platelets
Pelger-Huet Anomaly (PHA) is caused by a mutation in what gene?
Lamin β-receptor gene
Key function of lamin β-receptor protein?
Plays a major role in leukocyte nuclear shape changes during normal maturation
Characteristic nuclear shape in neutrophils with Pelger-Huet Anomaly?
Bilobed (spectacle-like ‘pince-nez’) or unilobed (round, ovoid, peanut-shaped)
Most common genetic disorder of WBCs?
Pelger-Huet Anomaly (PHA)
Inheritance pattern of Pelger-Huet Anomaly?
Autosomal dominant
Homozygous Pelger-Huet Anomaly neutrophil nuclei?
All neutrophils are round
Heterozygous Pelger-Huet Anomaly neutrophil nuclei?
55% to 93% of neutrophils affected, showing a mixture of nuclear shapes
Granulation pattern in neutrophils with true Pelger-Huet Anomaly?
Normal granulation
Functional status of neutrophils in true Pelger-Huet Anomaly?
Function normally
Another name for Acquired Pelger-Huet Anomaly?
Pseudo-Pelger-Huet Anomaly
Characteristics of neutrophils in pseudo-Pelger-Huet Anomaly?
Hyposegmented and hypogranular
Conditions associated with pseudo-Pelger-Huet cells?
Acute myeloid leukemia, chronic myeloproliferative neoplasms, myelodysplastic syndromes (MDS), HIV infection, tuberculosis, Mycoplasma pneumoniae, and severe bacterial infections
Defining feature of hypersegmented neutrophils?
Nucleus with > 6 lobes
Conditions associated with hypersegmented neutrophils?
Megaloblastic anemias, myelodysplastic syndromes, hereditary neutrophil hypersegmentation, myelokathexis
Key feature of neutrophils in myelokathexis?
Hypersegmentation, hypercondensed chromatin, pyknotic changes
Definition of myelokathexis?
Rare hereditary condition with normal granulocyte production but impaired release into the blood, leading to neutropenia
Lupus Erythematosus (LE) Cell is typically what type of cell?
A neutrophil that has ingested the antibody-coated nucleus of another neutrophil or a homogenous, globular nuclear mass
Primary condition associated with LE Cells?
Systemic lupus erythematosus (SLE)
Other disorders where LE Cells may be found?
Comparable connective tissue disorders
Tart Cell is typically what type of cell?
A monocyte that has ingested a whole lymphocyte or nucleus with identifiable nuclear chromatin
Condition where Tart Cells may be observed?
Drug sensitivity
Defining feature of Rieder Cell nucleus?
Notched, lobulated, cloverleaf-like
Conditions where Rieder Cells may be found?
Chronic lymphocytic leukemia or artificially formed through blood film preparation
Another name for Grape Cell?
Morula cell or Mott cell
Grape Cell cytoplasm is filled with what structures?
Russell Bodies (antibodies and immunoglobulins)
Disease associated with Grape Cells?
Multiple Myeloma (Plasma Cell Myeloma)
Key diagnostic protein in Plasma Cell Myeloma?
Bence Jones Protein
CRAB acronym in Plasma Cell Myeloma stands for?
Hypercalcemia, Renal insufficiency, Anemia, Bone lesions
Defining feature of Hairy Cells?
Small lymphocytes with little cytoplasmic projections
Hairy Cells test positive for which enzyme?
Tartrate resistant acid phosphatase (TRAP)
Disease associated with Hairy Cells?
Hairy Cell Leukemia
Which isoenzyme of acid phosphatase is abundant in Hairy Cells?
Isoenzyme 5
Definitive histologic characteristic of Hodgkin’s Disease?
Presence of Reed-Sternberg cells
Key features of Reed-Sternberg cells?
Large lymphoid cell with two nuclei, eosinophilic nucleoli, and abundant cytoplasm
Flower cells are seen in what condition?
Adult T-cell leukemia
Another name for Popcorn cells?
L and H cells
Condition associated with Popcorn cells?
Nodular Lymphocyte Predominant Hodgkin’s Lymphoma (NLPHL)
Characteristic feature of Sezary cells?
Cerebriform nucleus
Disease associated with Sezary cells?
Mycosis Fungoides (a Non-Hodgkin’s Lymphoma)
Toxic granulations are found in which type of cell?
Neutrophils
Appearance of toxic granulations?
Dark-blue to black granules in the cytoplasm
Conditions associated with toxic granulations?
Severe infections and chemical poisoning (e.g., lead poisoning)
Appearance of Auer rods in cells?
Linear projections of primary granules
Condition associated with Auer rods?
Certain types of acute Myelogenous Leukemia (AML)
Defining feature of a Faggot cell?
Abnormal WBC with bundles of Auer rods in its cytoplasm
Description of Dohle bodies?
Round or oval blue-staining cytoplasmic inclusions in neutrophils, arranged in parallel rows and consisting of ribosomal RNA
Conditions associated with Dohle bodies?
Pregnancy, severe burns, aplastic anemia, scarlet fever, infectious diseases, and administration of toxic agents
Additional feature associated with MHA inclusions?
Presence of giant platelets
Dohle bodies vs. MHA inclusions: Size?
Dohle: small; MHA: larger
Dohle bodies vs. MHA inclusions: Shape?
Dohle: round; MHA: spindle
Dohle bodies vs. MHA inclusions: PAS reaction?
Dohle: positive; MHA: negative
Dohle bodies vs. MHA inclusions: Content?
Dohle: rRNA; MHA: mRNA
MHA inclusions unique feature?
Giant platelets
