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* Cyclic neutropenia should be differentiated from other disorders manifesting with recurrent [[fever]], [[aphthous stomatitis]], and [[pharyngitis]]. These include [[PFAPA syndrome]], monogenic [[autoinflammatory disorders]] such as [[FMF]], [[CAPS]], and [[TRAPS]], as well as primary immunodeficincies.<ref name="AliSartori-Valinotti2016">{{cite journal|last1=Ali|first1=Nora S.|last2=Sartori-Valinotti|first2=Julio C.|last3=Bruce|first3=Alison J.|title=Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome|journal=Clinics in Dermatology|volume=34|issue=4|year=2016|pages=482–486|issn=0738081X|doi=10.1016/j.clindermatol.2016.02.021}}</ref>
* Cyclic neutropenia should be differentiated from other disorders manifesting with recurrent [[fever]], [[aphthous stomatitis]], and [[pharyngitis]]. These include [[PFAPA syndrome]], monogenic [[autoinflammatory disorders]] such as [[FMF]], [[CAPS]], and [[TRAPS]], as well as primary immunodeficincies.<ref name="AliSartori-Valinotti2016">{{cite journal|last1=Ali|first1=Nora S.|last2=Sartori-Valinotti|first2=Julio C.|last3=Bruce|first3=Alison J.|title=Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome|journal=Clinics in Dermatology|volume=34|issue=4|year=2016|pages=482–486|issn=0738081X|doi=10.1016/j.clindermatol.2016.02.021}}</ref>
* Shwachman-Diamond syndrome may also present with [[neutropenia]]. However, its [[diagnosis]] requires some [[dysmorphic]] features which are not present in patients with cyclic neutropenia.<ref name="pmid10393609">{{cite journal |vauthors=Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR |title=Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar |journal=J. Pediatr. |volume=135 |issue=1 |pages=81–8 |date=July 1999 |pmid=10393609 |doi=10.1016/s0022-3476(99)70332-x |url=}}</ref>
* Shwachman-Diamond syndrome may also present with [[neutropenia]]. However, its [[diagnosis]] requires some [[dysmorphic]] features which are not present in patients with cyclic neutropenia.<ref name="pmid10393609">{{cite journal |vauthors=Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR |title=Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar |journal=J. Pediatr. |volume=135 |issue=1 |pages=81–8 |date=July 1999 |pmid=10393609 |doi=10.1016/s0022-3476(99)70332-x |url=}}</ref>
* For more information on cyclic neutropenia [[differential diagnosis]] please [[Familial mediterranean fever differential diagnosis|click here]].
* For more information on cyclic neutropenia [[differential diagnosis]] please [[Neutropenia differential diagnosis|click here]].
 
==Epidemiology and Demographics==
==Epidemiology and Demographics==
* The incidence of cyclic neutropenia is 0.010-0.02 per 100,000 individuals worldwide.<ref name="pmid14962902">{{cite journal |vauthors=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 |title=Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register |journal=Blood |volume=103 |issue=11 |pages=4119–25 |date=June 2004 |pmid=14962902 |doi=10.1182/blood-2003-10-3518 |url=}}</ref>
* The incidence of cyclic neutropenia is 0.010-0.02 per 100,000 individuals worldwide.<ref name="pmid14962902">{{cite journal |vauthors=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 |title=Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register |journal=Blood |volume=103 |issue=11 |pages=4119–25 |date=June 2004 |pmid=14962902 |doi=10.1182/blood-2003-10-3518 |url=}}</ref>

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
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.[1][2]
  • The disease occurs in autosomal dominant mode of inheritance.
  • Theoretically, this disorder can be cured by bone marrow transplantation. This demonstrates its pathogenesis as the stem cell abnormality.[3]
  • This stem cell abnormality leads to the myelocyte maturation arrest during neutropenia episodes.

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.[6]
  • There is no racial predilection to cyclic neutropenia.
  • Cyclic neutropenia affects men and women equally.

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).[7]
  • 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

Physical Examination

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

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

Treatment

Medical Therapy

  • The mainstay of treatment for cyclic neutropenia is medical therapy.[9][10]
  • Granulocyte colony-stimulating factor (G-CSF) may be used to treat cyclic neutropenia.

Surgery

  • Surgical intervention is not recommended for the management of cyclic neutropenia.

Primary Prevention

Secondary Prevention

References

  1. 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. 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.
  3. 3.0 3.1 Lange RD, Jones JB (1981). "Cyclic neutropenia. Review of clinical manifestations and management". Am J Pediatr Hematol Oncol. 3 (4): 363–7. PMID 7036779.
  4. Ali, Nora S.; Sartori-Valinotti, Julio C.; Bruce, Alison J. (2016). "Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome". Clinics in Dermatology. 34 (4): 482–486. doi:10.1016/j.clindermatol.2016.02.021. ISSN 0738-081X.
  5. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR (July 1999). "Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar". J. Pediatr. 135 (1): 81–8. doi:10.1016/s0022-3476(99)70332-x. PMID 10393609.
  6. 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.
  7. Dale DC, Bolyard AA, Aprikyan A (April 2002). "Cyclic neutropenia". Semin. Hematol. 39 (2): 89–94. PMID 11957190.
  8. 8.0 8.1 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.
  9. Hammond WP, Price TH, Souza LM, Dale DC (May 1989). "Treatment of cyclic neutropenia with granulocyte colony-stimulating factor". N. Engl. J. Med. 320 (20): 1306–11. doi:10.1056/NEJM198905183202003. PMID 2469956.
  10. Bonilla MA, Dale D, Zeidler C, Last L, Reiter A, Ruggeiro M, Davis M, Koci B, Hammond W, Gillio A (December 1994). "Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias". Br. J. Haematol. 88 (4): 723–30. doi:10.1111/j.1365-2141.1994.tb05110.x. PMID 7529539.

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