WBC Anomalies + Lipid Storage Disorders Flashcards
Alder - Reilly Inclusions or Anomaly
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
Identify Anomaly
Chediak - Higashi Syndrome
Chediak - Higashi Syndrome
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.
Identify Anomaly
Chediak - Higashi Syndrome
May - Hegglin Anomaly
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.
Identify Anomaly
May - Hegglin anomaly
Chronic Granulomatous Disease
-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
Chronic Granulomatous Disease
Diagnosis and Treatment
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
Myeloperoxidase (MPO) Deficiency
Neutrophils have decreased enzyme resulting in longer killing time of bacteria
Gene mutation
Relatively mild in most patients
Diabetes mellitus Associated Dysfunction
Poor neutrophil function
High glucose levels result in abnormal oxidative burst.
Leukocyte Adhesion Disorders
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.
Lazy Leukocyte Syndrome
Cells do not respond to chemotaxis.
Cells have poor directional and random movement
Patients have a history of recurrent infections
Hairy Cell Leukemia
-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
Identify
Hairy Cell Leukemia
Sezary Syndrome
Sezary cells – malignant cells that appear as mature lymphs with convoluted, cerebriform nuclear folds
Identify
Sezary Cells
Identify
Goucher Cell
Identify
Niemann - Pick Disease
Identify
Tay - Sachs Disease
