[CIS PIDD] [cis-pidd] cyclic neutropenia in a 14 yo non SLE female?

[Aristoteles Alvarez Cardona]

Thank you for your reassuring comments Dr. Newburger, I´ll follow your advice.
 
Dr. Aristoteles Alvarez Cardona

Alergia e Inmunología Clínica Pediátricas  
Profesor Investigador Asociado en Pediatría. 
Universidad Autónoma de Aguascalientes. 
Móvil: 4491265561

Consultorio: 4499109900 extensión 2311  
Universidad: 4499108445
El Sábado, 3 de mayo, 2014 15:48:15, "Newburger, Peter" <Peter.Newburger at umassmed.edu> escribió:
 
 
As you observe, it is not possible to make the diagnosis of cyclic neutropenia from q2week CBCs.  I would suggest keeping a calendar of symptoms to see if they really map to 21-day intervals, and obtaining a CBC/diff at the time of symptoms to see if they correlate with a neutrophil nadir.  If you find ANC>200 the symptoms are unlikely to derive from neutropenia; if >500, extremely unlikely.  Stomatitis is also almost invariable at cyclic neutropenia nadirs. 
The best test would be sequencing of the ELANE gene, which has a detectable mutation in virtually all CN patients.
Anti-neutrophil antibody tests are not very useful, because of the high rates of false negative and positive results -- and the tendency of clinical labs to send an ANA or ANCA by mistake!


Peter

-------------------------------------------------------------
Peter E. Newburger, MD
Steering Committee, Severe Chronic Neutropenia International Registry
Ali and John Pierce Professor of Pediatric Hematology/Oncology
Vice Chair for Research
Department of Pediatrics
University of Massachusetts Medical School
55 Lake Avenue North
Worcester, MA 01655
tel. 508 856-4225
fax 508 856-4282
peter.newburger at umassmed.edu
-------------------------------------------------------------

________________________________
 
From: Aristoteles Alvarez Cardona [dr.aristoteles at yahoo.com.mx]
Sent: Friday, May 02, 2014 8:46 PM
To: CIS-PIDD
Subject: [cis-pidd] cyclic neutropenia in a 14 yo non SLE female?


Dear All.

I would appreciate your inputs in this case:

14yo hispanic female from non consanguineous parents.

Personal historyof:
Atopic dermatitis and mild allergic rhinitis.
Acquired hypoparatiroidism receiving levothyroxine.
Not severe or recurrent infections

She was sent to me because recurrent events of chills and malaise along with neutropenia.

Unremarkable physical examination.

Lab:
Absolute neutrophils by day: February 28th (1122) March 4th (546)  7th (1472)  11th (1722)  14th (2400) 18th (3162) 21st (1700)

Hb 13.95 Platelets 310,000. Leukocytes 5000 Neutrophils 32% Lymphocytes 56% Monocytes 10% No abnormal cells.

Previous neutropenic states around 400 absolutes.

IgG 974mg/dl, IgA 192mg/dl, IgM102mg/dl,  IgE 89.3U/ml 


Anti thyroid antibodies 246 (0-12)
ANA, Sm and Antiphospholipid antibodies, all negative.
C3 103.4 (55-120) C4 19.1 (20-45)

Unremarkable Urinalysis

Now, by definition cyclic neutropenia should have a nadir below 200 absolute neutrophils and improves with age, she is now 14 and only agreed to have 2 weekly blood tests but here is an evident decrease on neutrophils every 3 weeks. 

She has been free of severe infections but she suffers from chills and discomfort every month (nadir?) not affecting her QoL. She is doing well on everyday life.

I am sending her to hematology for a multidisciplinary approach and follow up. 

We have suggested antibiotics if needed but, should I just keep an eye on her once in a while? should I test for anti neutrophil Ab? considering she is otherwise fine.

Thank you on advance.

Dr. Aristoteles Alvarez Cardona 
Alergia e Inmunología Clínica Pediátricas 
Universidad Autonoma de Aguascalientes.


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