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Hematology Module 2 > Other Alterations in Granulocytes and Monocytes > Flashcards

Other Alterations in Granulocytes and Monocytes Flashcards

1
Q

Chronic Granulomatous Disease (CGD)

- What defect is

A

Genetic mutation where phagocytes are unable to produce superoxide and reactive oxygen species

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2
Q

Chronic Granulomatous Disease (CGD)

- inheritance (2 most common)

A
  • Sex-Linked (x linked recessive more common in males)

- Autosomal recessive

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3
Q

Chronic Granulomatous Disease (CGD)

- prognosis

A

Death usually around 5-7 years due to bacterial infection

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4
Q

Chronic Granulomatous Disease (CGD)

- Manifestations

A
  • Defective or absent respiratory burst
  • Reduced membrane NADH or NADPH
  • Absence of superoxide anion and H202
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5
Q

Chronic Granulomatous Disease (CGD)

- Physical manifestations

A
  • Chronic pyogenic infections of all systems
  • Abscess formation
  • Lymphadenophathy
  • Hepatosplenomegaly
  • Anemia of chronic inflammation
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6
Q

Chronic Granulomatous Disease (CGD)

- Differential findings

A 
Toxic granulation 
Hypogranulation 
Vacuolization 
Doelhe bodies 
Immature granulocytes
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7
Q

Chronic Granulomatous Disease (CGD)

- Good test to run

A

Nitroblue tetrazolium reduction or NBT test

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8
Q

In NBT test the dye is reduced by NADPH oxidase to form black formazan deposits. What happens in a cell with CGD?

A

There is no dye reduction in CGD, and no color change because NADPH oxidase is not functional

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9
Q

Leukocyte Adhesion Deficiency (LAD)

- What is wrong in this disease?

A
  • It results in the inability of neutrophils and monocytes to exit the blood vessel and enter the tissue
  • Results in repeated infections despite leukocytosis
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10
Q

Leukocyte Adhesion Deficiency (LAD)

- Inheritance

A

Rare autosomal recessive

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11
Q

Mutation resulting in reduced or defective beta2 integrin subunits (CD18) which are found on the leukocytes

A

Type 1 Leukocyte Adhesion Deficiency (LAD)

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12
Q

Mutation resulting in faulty selectins (CD62E) which are found on the endothelial cells

A

Type 2 Leukocyte Adhesion Deficiency (LAD)

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13
Q

Mutation resulting in a faulty binding mechanism between the b2 intern subunits and the selections on the endothelial cells

A

Type 3 Leukocyte Adhesion Deficiency (LAD)

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14
Q

Leukocyte Adhesion Deficiency (LAD)

- Hallmarks of the disease

A
  1. three different mutations each resulting in a different defect in the leukocyte adhesion process
  2. Patient has marked leukocytosis
  3. Recurrent infections
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15
Q

Leukocyte Adhesion Deficiency (LAD)

- Cure

A

Bone marrow or stem cell transplantation

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16
Q

Lysosomal Storage Disorders

- Cause

A

Caused by inborn errors of metabolism in which specific enzyme deficiencies allow the accumulation of products of cellular metabolism with lysosomes

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17
Q

Lysosomal Storage Disorders (LSD)

- Two broad Categories

A
  1. Mucopolysaccharide Storage Disorders

2. Lipid Storage Disease

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18
Q

Membrane bound structures present in cytoplasm of most cells. They contain hydrolytic enzymes that usually digest complex macromolecules that are normal products of cell metabolism.

A

Definition of a lysosome

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19
Q

What cells are rich in lysosomes?

A

Cells of Monocyte/Macrophage system

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20
Q

Lysosomal Storage Disorders (LSD)

- Pathogenesis (whats going on?)

A
  • Enzyme deficiency leads to accumulation of cell metabolism and disrupts normal architecture
  • Spleen and liver are often enlarged
  • BM may be replace by macrophages
  • Pancytopenia
  • Vacuolated lymphocytes
  • CNS may be involved
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21
Q

Lysosomal Storage Disorders (LSD)

- inheritance

A

autosomal recessive

22
Q

Lysosomal Storage Disorders (LSD)

- Broad diagnosis (3)

A
  1. Hepatomegaly and/or splenomegaly
  2. Slow physical and/or mental development
  3. If CNS involved, seizures or blindness my occur
23
Q

This may be seen in many of lysosomal storage diseases but most characteristic in Taysachs (eye)

A

Cherry-red spot on back of the eye

24
Q

Lysosomal Storage Disorders (LSD)

- Treatment

A
  1. Enzyme replacement therapy

2. Bone marrow transplant

25
Q

Name 4 lysosomal storage disorders

A
  • Mucopolysaccharidoses (MPS) (aka: Alder-Reilly Anomaly)
  • Gaucher Disease
  • Niemann-Pick Disease
  • Tay-Sachs Disease
26
Q

Gaucher Disease

- Deficiency in what?

A

Deficiency of the enzyme Beta-glucocerebroside

27
Q

Gaucher Disease

- What increases?

A

increase in glucocerebroside

28
Q

Gaucher Disease

- General pathogenesis of all types of the disease

A
  • Spleen and liver enlargement
  • Anemia
  • Thrombocytopenia
  • Growth Retardation
  • May have effects on skeletal system and nervous system
29
Q
  • Most common form of Gaucher Disease
  • Reduced levels of glucocerebrosidase
  • Involves liver, spleen, lymph nodes, BM
  • may have skeletal effects
  • slight decrease in life expectancy
A

Gaucher Disease

- Type 1

30
Q
  • More severe form of Gaucher Disease
  • Acute neuronopathic
  • Undetectable levels of glucocerebrosidase
  • Involves ALL tissues, including brain
  • Mortality in early childhood
A

Gaucher Disease

- Type 2

31
Q
  • Form of Gaucher Disease with intermediate enzyme levels
  • Subacute neuronopathic
  • Gradual onset and life expectancy 20-40 years
A

Gaucher Disease

- Type 3

32
Q

Large, lipid filled macrophages, oval eccentric nuclei, faint blue cytoplasm, and chicken-scratch or crumpled tissue paper appearance.

A

Gaucher Cells

33
Q

Where are gaucher cells found?

A

Bone marrow, spleen, liver, and lymph nodes

34
Q

Treatment of Type 1 Gaucher Disease

A
  • supportive care
  • BM transplant
  • Enzyme replacement
  • Splenectomy
    (treatment very successful)
35
Q

Enzyme replacement in Gaucher Disease are very expensive. What are two of them and what are they made from?

A

Cerezyme and Vpriv

made from Chinese Hamster ovary cells

36
Q

Treatment and prognosis of Type 2 Gaucher Disease

A
  • Failure to thrive
  • Hepatomegaly
  • Life exp: <2 years
37
Q

Treatment and prognosis of Type 3 Gaucher Disease

A
  • Less Rapid progressive than type 2

- Life expectancy 20-40 years

38
Q

Niemann-Pick Disease

- Type A and B Deficiency of what and accumulation of what?

A

Deficiency of the enzyme sphingomyelinase so accumulation of sphingomyelin

39
Q
  • Eccentric nucleus with foamy cytoplasm, filled with droplets of lipid
  • pale blue and also may contain sea-blue histiocytes
A

Niemann-Pick Cells

40
Q

Niemann-Pick Disease

- Type C accumulating compound

41
Q

Niemann-Pick Disease

- Type A amount of sphingomyelinase

A

< 5% of normal levels (usually undetectable)

42
Q

Niemann-Pick Disease

- Treatment and treatment Type A

A

No effective treatment and Death < age 2

43
Q

Niemann-Pick Disease

  • Type B amount of sphingomyelinase
  • Survival
A
  • 27 times as much sphingomyelinase

- Survival into adulthood

44
Q

Niemann-Pick Disease

  • Type C (most common form) increase in what?
  • Survival rate
A
  • Increase in LDL cholesterol

- Survival into 20’s or 30’s

45
Q

Niemann-Pick Disease

- So overall what is the treatment?

A

NO successful treatment :(

46
Q

Tay-Sachs Disease

  • Enzyme deficiency
  • Accumulated compound
A
  • Deficiency of hexosaminidase A

- Increase in ganglioside Gm2

47
Q

About 1 in 20 of these people carry the gene for the infantile and adult forms of Tay-Sachs

A

Ashkenazi Jews

48
Q

Three types of Tay-Sachs Disease

A
  1. Classic infantile
  2. Juvenile
  3. Adult
49
Q

Symptoms develop at 6 months and progressively worsen. Death usually occurs before 4. No cure.

A

Classic infantile Tay-Sachs Disease

50
Q

Symptoms occur between 2 and 10 years old. Death occurs before the patient is 15

A

Juvenile Tay-Sachs Disease

51
Q

Symptoms between 30 and 40. Progressive neurological deterioration, survive to ages of 60-70

A

Adult Tay-Sachs Disease

52
Q

What disease?

  • 1 in 280 are carriers in Ashkenazi population
  • Deficiencies in both alpha and beta subunits of hexosaminidase
  • Presents similarly to classical infantile Tay-Sachs; however, there may be some organomegaly
  • No cure
A

Standoff Disease

Hematology Module 2 (14 decks)

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