Cyclic neutropenia
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Cyclic hematopoiesis
Overview
Cyclic neutropenia is a condition in which the neutrophil count periodically and regularly rises and falls. It is rarely observed in humans, but has been observed in the Grey Collie dog.
Historical Perspective
- Cyclic neutropenia first described in the year 1910 in an infant with recurrent fever.[1]
Classification
- There is no established system for the classification of cyclic neutropenia.
Pathophysiology
- Cyclic neutropenia is caused by a mutation in the ELA2 gene.[2]
- The disease occurs in autosomal dominant mode of inheritance.[1]
Causes
- Cyclic neutropenia is caused by a mutation in the ELA2 gene.[2]
Differentiating Cyclic neutropenia from Other Diseases
Epidemiology and Demographics
- The incidence of cyclic neutropenia is 0.010-0.02 per 100,000 individuals worldwide.[3]
Risk Factors
- There are no established risk factors for cyclic neutropenia.
Screening
- There is insufficient evidence to recommend routine screening for cyclic neutropenia.
Natural History, Complications, and Prognosis
- Disease manifests in early years of life with episodes of fever occurring every 21 days (range from 14 to 35 days).[4]
- The hallmark of this disorder is the predictability of the fever episodes.
- Patients may also present with gingivitis, stomatitis, and malaise.
- During episodes, patients are neutropenic.
Diagnosis
Diagnostic Criteria
History and Symptoms
- Symptoms of cyclic neutropenia include fever, malaise, oral ulcers, gingival inflammation, edema, and sore throat.[5]
Physical Examination
- Physical examination of patients with cyclic neutropenia include:[5]
- Fever
- Pharyngitis
- Gingival inflammation and edema
Laboratory Findings
- Laboratory findings associated with the diagnosis of cyclic neutropenia include:
- Low absolute neutrophilic count
Electrocardiogram
- There are no ECG findings associated with cyclic neutropenia.
X-ray
- There are no x-ray findings associated with cyclic neutropenia.
Echocardiography or Ultrasound
- There are no echocardiography/ultrasound findings associated with cyclic neutropenia.
CT Scan
- There are no CT scan findings associated with cyclic neutropenia.
MRI
- There are no MRI findings associated with cyclic neutropenia.
Other Imaging Findings
- There are no other imaging findings associated with cyclic neutropenia.
Other Diagnostic Studies
- There are no other diagnostic studies associated with cyclic neutropenia.
Treatment
Medical Therapy
Surgery
- Surgical intervention is not recommended for the management of cyclic neutropenia.
Primary Prevention
- There are no established measures for the primary prevention of cyclic neutropenia.
Secondary Prevention
- There are no established measures for the secondary prevention of cyclic neutropenia.
References
- ↑ 1.0 1.1 Dale, David C.; Bolyard, Audrey Anna; Aprikyan, Andrew (2002). "Cyclic neutropenia". Seminars in Hematology. 39 (2): 89–94. doi:10.1053/shem.2002.31917. ISSN 0037-1963.
- ↑ 2.0 2.1 Horwitz, Marshall S.; Corey, Seth J.; Grimes, H. Leighton; Tidwell, Timothy (2013). "ELANE Mutations in Cyclic and Severe Congenital Neutropenia". Hematology/Oncology Clinics of North America. 27 (1): 19–41. doi:10.1016/j.hoc.2012.10.004. ISSN 0889-8588.
- ↑ Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J (June 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. doi:10.1182/blood-2003-10-3518. PMID 14962902.
- ↑ Dale DC, Bolyard AA, Aprikyan A (April 2002). "Cyclic neutropenia". Semin. Hematol. 39 (2): 89–94. PMID 11957190.
- ↑ 5.0 5.1 Palmer SE, Stephens K, Dale DC (December 1996). "Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis". Am. J. Med. Genet. 66 (4): 413–22. doi:10.1002/(SICI)1096-8628(19961230)66:4<413::AID-AJMG5>3.0.CO;2-L. PMID 8989458.