1. neutropenia
By: Brittni McClellan

2. Classifications Neutropenia
A decrease in the number of circulating neutrophils (both segmented and band forms)
Total Neutrophil Count (ANC) of <1,500/mm3
ANC = Total WBC Count x (%Segmented Neutrophils + %Band Forms)
Causes:
Decreased Production of Neutrophils
Marrow Failure
Marrow Suppression (Drugs, Chemo, Radiation)
Nutritional Deficiencies
Increased Destruction of Neutrophils
Immune-Mediated
Increased Utilization (Overwhelming Infection)
Sequestration in the Spleen
Factitious Causes
Bad Blood Sample
Leukocytic Fragility (Leukemia, Medication Use)

3. neutropenia– H&P Patient History: Current/Recurrent Fever
Physical Exam:
Fever
Tachycardia
Hypotension
Oral Ulceration, Gingival Irritation
Pharyngitis, Thrush
Cellulitis, Abscesses
Hepatomegaly, Splenomegaly
Bruises, Petechiae, Pallor
Phenotypic Abnormalities
Thumb/Joint Abnormalities
Dwarfism
Rash
Upper Respiratory Symptoms
Jaundice
Patient History:
Current/Recurrent Fever
Skin Abscesses
Infection
Oral Ulceration
Medication Use
Compare Prior CBCs
Diet: Nutritional Deficiency
Family History of Neutropenia, Infection, or Early Death

4. neutropenia - Diagnosis
CBC:
Neutrophils
Bands
Segmented Neutrophils
Other Labs
Anti-Neutrophil Antibodies
Autoimmune and Isoimmune Neutropenia
Neutrophils: Direct
Serum: Indirect
Genetic Testing
Kostmann Syndrome (HAX1)
Cyclic Neutropenia (ELA2)
Cultures

5. Immunologic Infection Drug-Induced Tumors Metabolic Congenital Misc:
Primary Immunodeficiency:
Abnormalities in B/T Cell Lymphocytes
Bacterial:
GBS, TB, Brucellosis, Tularemia, Typhoid
Antibiotics:
TMP-SMX
Penicillin
Chloramphenicol
Leukemia
Nutritional:
Metabolic, Cu Deficiency, Megaloblastic Anemia
Kostmann Syndrome:
Severe Congenital Neutropenia
Hypersplenism
Autoimmune Neutropenia:
Idiopathic, Onset: 2 Years
ANA+, Benign Course
Tx: Steroids
Viral:
Hepatitis A/B, Parvovirus B19, RSV, Influenza A/B, Rubeola, Rubella, Varicella, CMV, EBV, HIV
Chemotherapy Agents:
Alkylating agents, Antimetabolites, Anthracyclines
Solid Tumors that Invade Bone Marrow
Inborn Errors of Metabolism:
Hyperglycemia
Isovaleric Acidemia
Propionic Acidemia
Methylmalonic Acidemia
Cyclic Neutropenia:
Regular oscillations in the
number of circulating neutrophils.
Periodicity: 7–36 days
Duration of Neutropenia:
3–10 days
Aplastic Anemia:
Idiopathic Fanconi Anemia, Familial Aplastic Anemia, Dyskeratosis Congenita
Felty Syndrome:
Neutropenia +
Splenomegaly + RA
Other:
Malaria, Visceral Leishmania, Scrub Typhus, Sandfly Fever
Antipyretics:
Aspirin
Acetaminophen
Radiation Injury
Isoimmune Neonatal Neutropenia
Sedatives:
Barbiturates, Benzodiazepines
Chronic Benign Neutropenia of Childhood:
Diagnosis of Exclusion
Phenothiazines:
Chlorpromazine, Promethazine
Schwachman-Diamond Syndrome:
Exocrine Pancreatic Insufficiency
Antirheumatic Agents:
Gold, Penicillamine, Phenylbutazone
Cartilage/Hair Hypoplasia:
Dwarfism + Abnormal Cellular Immunity

6. Neutropenia – treatment
Medication:
Hematopoietic Growth Factors:
Granulocyte Colony-Stimulating Factor (G-CSF)
Drug of Choice for Kostmann Syndrome:
Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)
Immune-Mediated Neutropenia:
Corticosteroids and/or Plasmapheresis
Autoimmune Neutropenia
IVIG
Considerations:
Hospitalized Patients - Isolation
Correct the Underlying Cause
Treat Underlying Infections with Broad-Spectrum Antibiotics Empirically
Prophylactic Antibiotics are NOT Beneficial
Treat Only Severely Neutropenic Patients or Symptomatic Patients
Death from Overwhelming Infections Can Occur

7. Fever of Unknown Origin:
Workup

8. Neutropenia – treatment

9. Kostmann syndrome Description: Pathophysiology: Treatment:
Disorder in Myelopoiesis  Congenital Neutropenia
Autosomal Dominant – Most Common Subtype (SCN1)
Pathophysiology:
Mutation in ELANE (ELA2) Gene on Chromosome 19p13.3.
Encodes for Neutrophil Elastase
Treatment:
Granulocyte Colony-Stimulating Factor (Filgrastim)

10. Cyclic neutropenia syndrome
Description:
Neutropenia that:
Occurs every three weeks.
Lasts three to six days at a time.
Due to changing rates of cell production by the bone marrow.
Pathophysiology:
Mutation in ELANE (ELA2) Gene on Chromosome 19p13.3.
Encodes for Neutrophil Elastase
Treatment:
Granulocyte Colony-Stimulating Factor (Filgrastim)

11. Schwachman-Diamond Syndrome
Description:
Rare congenital disorder
Characterized by:
Exocrine Pancreatic Insufficiency,
Bone Marrow Dysfunction
Skeletal Abnormalities
Short Stature
Pathophysiology:
SBDS Gene on Chromosome 7q11.
Unknown Protein
Treatment:
Granulocyte Colony-Stimulating Factor (Filgrastim)
Pancreatic Enzyme Supplementation

12. Cartilage/Hair Hypoplasia
Description:
Also Known As McKusick Type Metaphyseal Chondrodysplasia
Rare Genetic Disorder.
Characterized By:
Short-Limbed Dwarfism due to Skeletal Dysplasia
Variable Level of Immunodeficiency
Predisposition to Cancer.
Pathophysiology:
Mutations in RMRP Gene
The ncRNA Component - RNae
Treatment:
Granulocyte Colony-Stimulating Factor (Filgrastim)
Unknown Treatment
Verne Troyer