Neutropenia differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Daniel A. Gerber, M.D. [2]

Overview

Neutropenia is diagnosed on a complete blood count differential and the severity is classified based on neutrophil count. Neutropenia is diagnosed when the absolute neutrophil count (ANC) is less than 1500 cells/µL.

Differential Diagnosis

Neutropenia is a laboratory diagnosis based off of the complete blood count differential, however the differential diagnosis for the etiology of neutropenia is quite important in diagnosing and treating these patients.

Consider the following broad differential when evaluating a patient with neutropenia:

Congenital neutropenia: rare, inherited mutations in the genes ELA2 or HAX1.^[1]
Cyclic neutropenia: 3 week cycles of neutropenia due to changing rates of neutrophil production by the bone marrow. Also the result of hereditary ELA2 mutations.^[2]
Idiopathic neutropenia
Myelokathexis: rare, inherited mutations in CXCR4 result in warts, hypogammaglobulinemia, and recurrent infections.^[3]
Autoimmune neutropenia: antibody-mediated neutrophil destruction.
Drug-induced neutropenia: 75% of all cases of agranulocytosis in the United States.

References

↑ Welte K, Zeidler C, Dale DC (2006). “Severe congenital neutropenia”. Semin Hematol. 43 (3): 189–95. Text “pmid 16822461” ignored (help)
↑ Bellanné-Chantelot C; et al. (2004). “Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register”. Blood. 103 (11): 4119–25. PMID 14962902.
↑ Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC. (2000). “Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors”. Blood. 95 (1): 320–7. PMID 10607719.

Template:WH Template:WS

[PMID16822461-1] Welte K, Zeidler C, Dale DC (2006). “Severe congenital neutropenia”. Semin Hematol. 43 (3): 189–95. Text “pmid 16822461” ignored (help)

[PMID14962902-2] Bellanné-Chantelot C; et al. (2004). “Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register”. Blood. 103 (11): 4119–25. PMID 14962902.

[PMID10607719-3] Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC. (2000). “Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors”. Blood. 95 (1): 320–7. PMID 10607719.

[1]

[2]

[3]