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Neutropenia, Cyclic

Neutropenia, Cyclic is a topic covered in the 5-Minute Clinical Consult.

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Basics

Description

  • A rare hematologic disorder characterized by recurrent fevers, mouth ulcers, and infections attributable to regularly recurring severe neutropenia
  • Although inherited in an autosomal dominant pattern, mutations in the gene for neutrophil elastase (ELA-2), sporadic mutations can occur.
  • Characterized by neutropenia that recurs every 14 to 35 days, with 90% of patients exhibiting a cycle of 21 days
  • During the neutropenic period, blood neutrophil levels fall to <0.2 × 109/L for 3 to 5 days, before increasing to near the lower limit of normal, ~2 × 109/L.

Epidemiology

  • Most patients present before the age of 5 years:
    • 32% are <1 year of age.
    • 27% are between ages 1 and 5 years.
  • Occurs equally in both sexes

Incidence
1 to 2 in a million people

Etiology and Pathophysiology

  • Bone marrow during neutropenia demonstrates “maturation arrest” at the promyelocyte and myelocyte stage of development.
  • At least 80% of cases of cyclic neutropenia are attributable to the mutations for neutrophil elastase (ELA-2/ELANE).
  • This mutation results in accelerated apoptosis of neutrophil progenitors, making neutrophil production inefficient.
  • It is not known if any other mutations can cause this disease.
  • The cause of acquired cyclic neutropenia is unknown.

Genetics
  • Autosomal dominant disorder with full penetrance but varying severity of clinical manifestations (expression)
  • Most commonly sporadic
  • Due to mutations in the gene for neutrophil elastase (ELA-2 or ELANE) on chromosome 19p13.3 (1)[A]

Risk Factors

Family history is predictive, although patients proven to have the (ELA) mutation will lack positive family history due to subclinical presentation among family members, new mutation, or variability in expression.

General Prevention

Genetic counseling

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Citation

Stephens, Mark B., et al., editors. "Neutropenia, Cyclic." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117539/all/Neutropenia__Cyclic.
Neutropenia, Cyclic. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117539/all/Neutropenia__Cyclic. Accessed April 19, 2019.
Neutropenia, Cyclic. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117539/all/Neutropenia__Cyclic
Neutropenia, Cyclic [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 April 19]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117539/all/Neutropenia__Cyclic.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Neutropenia, Cyclic ID - 117539 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117539/all/Neutropenia__Cyclic PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -