WBC Anomalies + Lipid Storage Disorders Flashcards

1
Q

Alder - Reilly Inclusions or Anomaly

A

Hematological manifestation of a group of inherited recessive disorders
-Deficiency in enzymes to break down mucopolysaccharides accumulate in WBCs
-Hurlers syndrome, Hunters syndrome and other varients of “gargoylism”

Prominent red to purple granules may appear in all wbc types (occ surrounded by a halo)
-May be difficult to distinguish from toxic granulation

Many patients die before age 10 years

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2
Q

Identify Anomaly

A

Chediak - Higashi Syndrome

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2
Q

Chediak - Higashi Syndrome

A

Rare autosomal recessive disorder characterized by giant lysosomes in most cells of the body.

Hematological Manifestations
-Abnormally formed lysosomal granules in wbc.
-Decreased platelets with abnormal large granules and defective function

Increased susceptibility to infections and bleeding problems lead to shortened lifespan.

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3
Q

Identify Anomaly

A

Chediak - Higashi Syndrome

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4
Q

May - Hegglin Anomaly

A

Rare Autosomal Dominant condition

Hematological manifestations
-Dohle like bodies
-Platelets
*Decreased
*Giant and Bizarre forms

Usually asymptomatic
-At risk for infections and bleeding but doesn’t usually lead to early death.

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5
Q

Identify Anomaly

A

May - Hegglin anomaly

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6
Q

Chronic Granulomatous Disease

A

-PMNs can phagocytize bacteria - but defect in enzyme (NADPH oxidase) responsible for respiratory burst and generation of superoxide to kill them.

-Macrophage rich granulomas can obstruct organs

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7
Q

Chronic Granulomatous Disease
Diagnosis and Treatment

A

Diagnosis:
-Nitroblue tetrazolium test
–Normal cells can reduce the water-soluble dye and forms a precipitate
-Flow cytometry

Untreated, patients usually die from bacterial / fungal infection from 5 - 7 years old.

Advances in treatment – increase survival rates
-90% survive well into adulthood
-prophylactic antibiotics/ antifungals, bone marrow transplant

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8
Q

Myeloperoxidase (MPO) Deficiency

A

Neutrophils have decreased enzyme resulting in longer killing time of bacteria

Gene mutation

Relatively mild in most patients

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9
Q

Diabetes mellitus Associated Dysfunction

A

Poor neutrophil function

High glucose levels result in abnormal oxidative burst.

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10
Q

Leukocyte Adhesion Disorders

A

Inability of neutrophils and monocytes to adhere to endothelial cells and migrate from blood into the tissues.

Gene mutation

Increased and potentially lethal bacterial infections.

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11
Q

Lazy Leukocyte Syndrome

A

Cells do not respond to chemotaxis.

Cells have poor directional and random movement

Patients have a history of recurrent infections

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12
Q

Hairy Cell Leukemia

A

-Few to many “hairy cells” - hairy cytoplasmic projections
-Confused cell – B- lymph origin but has features of monocytes

Laboratory Findings
-splenomegally
-moderate to severe pancytopenia
–WBC often less that 4,000 / mm3
-few to many “hairy cells” - hairy cytoplasmic projections
-often “dry tap”
-TRAP positive

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13
Q

Identify

A

Hairy Cell Leukemia

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14
Q

Sezary Syndrome

A

Sezary cells – malignant cells that appear as mature lymphs with convoluted, cerebriform nuclear folds

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15
Q

Identify

A

Sezary Cells

16
Q

Gaucher’s Disease

A

Inability to degrade glucocerebroside = accumulation in monocytes and macrophages

At least 1 in 17 Ashkenazi Jews are carriers

Deficient enzyme: beta-glucocerebrosidase

Cellular appearance of Macrophages:
-crumpled silk
-striated
-chicken scratch

Pseudo-Gaucher cells- excessive cell turnover

17
Q

Identify

A

Goucher Cell

18
Q

Niemann - Pick Disease

A

Inability to degrade sphingomyelin = accumulates in spleen, liver, lungs, brain, bone marrow

Deficient enzyme: sphingomyelinase

Cellular appearance of Macrophages:
-“Foam Cell”
-Bubbly appearance

19
Q

Identify

A

Niemann - Pick Disease

20
Q

Tay - Sachs Disease

A

Accumulation of unmetabolized ganglioside in almost all tissues

Normal at birth, by 6 months physical and mental deterioration, death occurs by 4 years

Deficient enzyme: Hexosaminidase A

Cellular appearance
-Vacuolated Lymphs (not diagnostic)

21
Q

Identify

A

Tay - Sachs Disease