Cyclic neutropenia: Difference between revisions
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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 [[ | * 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> | ||
Revision as of 13:48, 25 September 2019
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
- 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.[4]
- Shwachman-Diamond syndrome may also present with neutropenia. However, its diagnosis requires some dysmorphic features which are not present in patients with cyclic neutropenia.[5]
- For more information on cyclic neutropenia differential diagnosis please click here.
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
- Symptoms of cyclic neutropenia include fever, malaise, oral ulcers, gingival inflammation, edema, and sore throat.[8][3]
Physical Examination
- Physical examination of patients with cyclic neutropenia include:[8]
- 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
- 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
- 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.