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Cyclic neutropenia
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Cyclic neutropenia

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Contributors: Nina Haghi MD, Carla Casulo MD, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Cyclic neutropenia is a rare congenital blood disorder characterized by a predictable cyclic drop in neutrophils (neutropenia) followed by an inflammatory response generally due to infection in the setting of neutropenia, occurring approximately every 2-4 weeks. This condition is usually inherited in an autosomal dominant pattern; however, sporadic cases may occur.

The condition is identified in 1 in 1 million people worldwide and is due to mutations in the ELANE gene resulting in an abnormal neutrophil elastase protein. The condition is inherited in an autosomal dominant fashion.

Cyclic neutropenia presents in the first year of life with recurring symptoms of fever, malaise, and oropharyngeal and/or skin infection (eg, stomatitis, gingivitis, pharyngitis, sinusitis). Usually by the time symptoms appear, the neutrophil counts have recovered. Infection is mild; however, severe cases have been reported. More severe cases will present with abdominal pain and vomiting (neutropenic ileocolitis) and even death.

For more information, see OMIM.

Codes

ICD10CM:
D70.4 – Cyclic neutropenia

SNOMEDCT:
191347008 – Cyclic neutropenia

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Last Reviewed: 09/10/2018
Last Updated: 09/10/2018
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Cyclic neutropenia
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Cyclic neutropenia : Oral ulcers, Malaise, Recurring fever episodes, WBC decreased
Copyright © 2019 VisualDx®. All rights reserved.