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PBR: Hematology > WBC Disorders > Flashcards

WBC Disorders Flashcards

1
Q

Define severe neutropenia.

A

Severe neutropenia is generally defined as having an absolute neutrophil count of <500 cells/µL.

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2
Q

How does one calculate the absolute neutrophil count?

A

Total WBC count x (% neutrophils + % bands)

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3
Q

Why should patients with severe neutropenia be evaluated immediately for any fever?

A

Children with severe neutropenia are at risk for overwhelming bacterial infection, so if they develop fever, they should be evaluated immediately, blood cultures should be drawn, and they should be started on parenteral broad-spectrum antibiotics.

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4
Q

Name four inherited neutropenia syndromes.

A

Cyclic neutropenia, severe congenital neutropenia (Kostmann Syndrome), Shwachman-Diamond syndrome, and cartilage-hair hypoplasia.

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5
Q

Name three forms of acquired neutropenia.

A

Neonatal isoimmune neutropenia, chronic benign neutropenia (autoimmune), and virus/drug-induced neutropenia.

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6
Q

What is the neutropenic cycle in patients with cyclic neutropenia?

A

Neutropenia occurs at a regular interval of every 21 +/- 3 days, with the neutropenia lasting for 3-5 days.

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7
Q

What is the typical ANC during the neutropenic interval in patients with cyclic neutropenia?

A

ANC is typically <200 cells/µL

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8
Q

Patients with cyclic neutropenia are at particular risk for sepsis caused by which organism?

A

Clostridium septicum

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9
Q

What is the recommended management for patients with cyclic neutropenia?

A

Administration of granulocyte colony stimulating factor (G-CSF) and antibiotics for infections. Oral hygeine is important.

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10
Q

How do patients with cyclic neutropenia typically present when neutropenic?

A

Fever, aphthous stomatitis, cervical lymphadenitis, and rectal/vaginal ulcers.

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11
Q

What is Kostmann syndrome?

A

Kostmann Syndrome (severe congenital neutropenia) is a rare autosomal recessive disorder which causes ANC to be <200 cells/µLwith associated monocytosis and eosinophilia. Children are at risk for severe bacterial infections and early death.

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12
Q

What is the typical management for patients with Kostmann syndrome?

A

High dose granulocyte colony stimulating factor (G-CSF). Bone marrow transplant is curative.

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13
Q

What two genes are mutated in patients with Kostmann syndrome?

A

ELA2 and HAX1

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14
Q

What gene is mutated in patients with cyclic neutropenia?

A

ELA2

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15
Q

What is Shwachman-Diamond syndrome?

A

Shwachman-Diamond syndrome is an autosomal recessive disorder resulting from mutations in the SBDS gene. Children present with features similar to those found in patients with cystic fibrosis: FTT, steatorrhea due to pancreatic exocrine insufficiency, and recurrent infections. Unique features include neutropenia and metaphyseal dysostoses.

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16
Q

What disease shares many of the same characteristics as Shwachman-Diamond syndrome?

A

Cystic fibrosis

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17
Q

What features of Shwachman-Diamond syndrome differentiate it from cystic fibrosis?

A

Patients with Shwachman-Diamond syndrome have neutropenia and metaphyseal dysostoses, which are not present in patients with cystic fibrosis.

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18
Q

How is Shwachman-Diamond syndrome usually treated?

A

Supportive care with pancreatic enzyme replacement and, depending on frequency and severity of infections, G-CSF administration or bone marrow transplant.

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19
Q

What two oncologic conditions are patients with Shwachman-Diamond syndrome at higher risk for?

A

Myelodysplasic syndrome and AML.

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20
Q

What is Cartilage-Hair Hypoplasia?

A

An autosomal recessive form of short-limb dysostosis that occurs primarily in children of Amish descent and is characterized by sparse or fine hair. Neutropenia occurs in ~25% of cases and is often accompanied by defects in cell-mediated immunity.

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21
Q

What infection is particularly troublesome for patients with Cartilage-Hair Hypoplasia?

A

Varicella Zoster

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22
Q

Which autoimmune diseases are more common in patients with Cartilage-Hair Hypoplasia?

A

Immune Thrombocytopenic Purpura (ITP) and autoimmune hemolytic anemia (AIHA).

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23
Q

What is the treatment of choice for patients with Cartilage-Hair Hypoplasia who have recurrent severe infections?

A

Bone marrow transplant.

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24
Q

Describe neonatal immune neutropenia.

A

It is a self-limited disease that occurs when maternal antibodies to fetal neutrophil antigens cross the placenta and destroy fetal neutrophils. The infant develops neutropenia that recovers in 6-12 weeks, but any infection during that time requires quick, appropriate antibiotic therapy.

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25
Q

Describe the risk for infants of mothers who have had children with neonatal isoimmune neutropenia in the past.

A

All future children of mothers who had a child with neonatal isoimmune neutropenia are also at risk for developing the condition.

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26
Q

What is another name for chronic benign neutropenia?

A

Autoimmune neutropenia

27
Q

What is the most common cause of neutropenia in a child who is otherwise healthy?

A

Chronic benign neutropenia/autoimmune neutropenia

28
Q

Describe chronic benign neutropenia.

A

It is characterized by a persistently low ANC of <1,000 cells/µL, which is caused by autoantibodies against granulocytes. The disease is mild and does not usually require treatment.

29
Q

What is the median age of diagnosis and typical duration of chronic benign neutropenia?

A

Median age of diagnosis is 8-11 months and the disorder usually lasts about 2 years.

30
Q

Differentiate the chronic benign neutropenia from cyclic neutropenia.

A

Cyclic neutropenia involves severe neutropenia occurring at regular intervals and is associated with severe, life-threatening infections. It is a genetic, life-long disorder. Chronic benign neutropenia can be AD or sporadic and usually only lasts 2 years. It also has neutropenia but children with this disorder are otherwise healthy and usually do not present with severe infections.

31
Q

What is the most common etiology of neutropenia in children?

A

Viral infection resulting in transient bone marrow suppression.

32
Q

What (7) drug classes can cause neutropenia?

A

Anticonvulsants, antithyroid agents, NSAIDs, antihistamines, sulfas, synthetic penicillins, and chemotherapeutic agents.

33
Q

If an infant presents with delayed separation of the umbilical cord, what diagnosis should be considered?

A

Leukocyte Adhesion Deficiency Type 1

34
Q

What is the treatment of choice for patients with Leukocyte Adhesion Deficiency Type 1?

A

Bone marrow transplant, as life expectancy without transplant is typically <2 years.

35
Q

What is the typical laboratory finding in patients with Leukocyte Adhesion Deficiency Type 1?

A

Patients have neutrophilia, but the neutrophils don’t accumulate at the site of infection.

36
Q

What infections are common in patients with Leukocyte Adhesion Deficiency Type 1?

A

Omphallitis, recurrent skin infections, severe periodontitis/gingivitis, and recurrent pneumonias due to bacteria and fungi.

37
Q

What is Leukocyte Adhesion Deficiency Type 1?

A

A rare autosomal recessive disorder that affects the ability of neutrophils to adhere properly to infected cells and mobilize to sites of infection. Patients have recurrent infections and life expectancy is <2 years without bone marrow transplant.

38
Q

What genetic defect is implicated in the development of Leukocyte Adhesion Deficiency Type 1?

A

The defect is a mutation in the gene that encodes CD18, located on chromosome 21, and results in a lack of formation of leukocyte adhesion molecules.

39
Q

What is another name for hyperimmunoglobulin E syndrome?

A

Job Syndrome

40
Q

What are the characteristics of hyperimmunoglobulin E syndrome?

A

It presents with a 10-fold increase in the serum IgE level, defective chemotaxis, skin disorders, and recurrent infections.

41
Q

What are the typical features of abscesses in patients with Hyperimmunoglobulin E syndrome?

A

Abscesses are “cold”: without redness, heat, or pain.

42
Q

What is the main organism responsible for skin abscesses in patients with Hyperimmunoglobulin E syndrome?

A

Staphylococcus aureus

43
Q

What is the recommended prophylactic medication in patients with Hyperimmunoglobulin E syndrome?

A

Trimethoprim/sulfamethoxazole (Bactrim)

44
Q

Which virus induces an accelerated phase in children with Chediak-Higashi syndrome?

A

Epstein-Barr virus

45
Q

What is Chediak-Higashi syndrome?

A

An autosomal recessive disease that results from a defect in the gene responsible for vesicle trafficking regulatory proteins and causes altered lysosomes and granules within the cells.

46
Q

How does Chediak-Higashi present clinically?

A

Partial oculocutaneous albinism with silvery hair, giant lysosomes in all granule-containing cells, neutropenia, bleeding tendency, natural killer cell dysfunction, progressive neurologic decline, and frequent bacterial infections.

47
Q

What peripheral smear findings are pathognomonic for Chediak-Higashi syndrome?

A

Giant granules in neutrophils and eosinophils.

48
Q

What is the defect in chronic granulomatous disease?

A

CGD is caused by neutrophil dysfunction in which there is a defect in the respiratory burst, which, under normal circumstances, would result in the killing of bacteria.

49
Q

How is chronic granulomatous disease usually inherited?

A

Most cases are X-linked, but 1/3 are autosomal recessive.

50
Q

Which (6) organisms are most likely to cause serious infections in patients with chronic granulomatous disease?

A

Organisms that produce catalase: Staph aureus, Nocardia, Aspergillus, Burkholderia cepacia, Serratia marcescens, and Salmonella.

51
Q

How do you test for chronic granulomatous disease?

A

Nitroblue tetrazolium (NBT) dye test or a newer flow-cytometry-based test (dihydrorhodamine oxidation).

52
Q

What is the most common neutrophil disorder?

A

Myeloperoxidase deficiency

53
Q

How does myeloperoxidase deficiency usually present?

A

The disease can present with recurrent mild infections but is usually completely asymptomatic due to variable expression of the defect.

54
Q

Differentiate the most likely cause of eosinophilia in developed vs developing countries.

A

In developed countries, eosinophilia is most likely due to allergies. In developing countries, it’s most likely due to parasites.

55
Q

What pathologic conditions can present with eosinophilia?

A

Hodgkin disease, leukemias, dermatitis, GI disorders, allergies, and parasitic infections.

56
Q

What is Loffler syndrome?

A

Hypereosinophilia, endocardial fibrosis, and mural thrombi.

57
Q

How is Loffler syndrome treated?

A

With corticosteroids, vinca alkaloids, hydroxyurea, and, if necessary, bone marrow transplant.

58
Q

What is hypereosinophilic syndrome?

A

An acquired, chronic syndrome whereby an overabundance of eosinophils causes tissue damage. It has no known etiology and is distinct from eosinophilic leukemia, a subtype of AML.

59
Q

Which pathologic disorders exhibit an excess of basophils?

A

Chronic myelogenous leukemia, ulcerative colitis, and myxedema.

60
Q

What cell type is the blood-borne equivalent of tissue-bound mast cells?

A

Basophils

61
Q

What is mastocytosis?

A

A skin condition in which mast cells infiltrate the skin. There is also a systemic form that involves infiltration of the bone marrow, liver, spleen, and GI tract. Patients with systemic mastocytosis do very poorly.

62
Q

What is the Darier sign?

A

The presence of urticaria after rubbing the skin.

63
Q

What skin finding is classic in patients with mastocytosis?

A

The Darier sign: urticaria which presents after rubbing the skin.

PBR: Hematology (9 decks)

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