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This article is part of the supplement: 2011 Pediatric Rheumatology Symposium: Abstracts

Open Access Poster presentation

PFAPA: a single phenotype with genetic heterogeneity

Sivia K Lapidus2*, Puja Chitkara10, Peter W Kim8, Ivona Aksentijevich4, Elaine F Remmers4, Henry Feder9, Beverly K Barham4, Anne Jones3, Michael M Ward7, Karyl S Barron6, Daniel L Kastner5 and Silvia Stojanov1

  • * Corresponding author: Sivia K Lapidus

Author Affiliations

1 Children's University Hospital Munich, Munich, Bavaria, Germany

2 Goryeb Children's Hospital, Maplewood, NJ, USA

3 NHGRI, Damascus, MD, USA

4 NHGRI, Bethesda, MD, USA

5 NHGRI NIH, Bethesda, MD, USA

6 NIAID, Bethesda, MD, USA

7 NIH, Bethesda, MD, USA

8 NIH/NHGRI, Bethesda, MD, USA

9 Connecticut Health Sciences Center/Connecticut Children's Medical Center, Farmington, CT, USA

10 SDAMC, San Diego, CA, USA

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Pediatric Rheumatology 2012, 10(Suppl 1):A86  doi:10.1186/1546-0096-10-S1-A86

The electronic version of this article is the complete one and can be found online at: http://www.ped-rheum.com/content/10/S1/A86


Published:13 July 2012

© 2012 Lapidus et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Purpose

PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common recurrent fever syndrome affecting children. No infectious or genetic etiology has been identified. We aimed to compare various clinical characteristics between sporadic and familial cases in addition to describing the heritability of familial cases.

Methods

PFAPA patients were prospectively recruited. All patients had genetic testing to exclude mutations in the known fever genes (MVK, MEFV, TNFRSF1A, NLRP3, and ELA2). These PFAPA patients have been classified as sporadic or familial cases based on family history. Familial cases included those with a family member having PFAPA or a family member having a feature of PFAPA (recurrent fever, oral ulcer, pharyngitis, or lymphadenopathy). The demographics, symptoms, response to therapies, and clinical characteristics were compared for sporadic and familial cases. Detailed histories were obtained from families with multiple members affected by PFAPA.

Results

Eighteen of 45 PFAPA patients (40%) had no family history of PFAPA features, nine of 45 patients (20%) had at least one family member with PFAPA, and 18 of 45 patients (40%) had a family history of PFAPA symptoms. Sporadic and familial PFAPA patients did not exhibit significant differences in demographics, height of fever, and defining as well as non-defining features of PFAPA. Five families had a total of 12 children affected with PFAPA, in addition to affected adult members. One of the five families had a pattern consistent with autosomal recessive inheritance, and four had patterns resembling autosomal dominant inheritance.

Conclusion

The sporadic and familial cases of PFAPA in whom monogenic recurrent fever syndromes have been excluded do not appear to differ in their features or severity of disease. The familial cases of PFAPA imply a possible genetic propensity to this condition with an uncertain mode of inheritance, the elucidation of which may direct genetic studies for this common autoinflammatory condition.

Disclosure

Sivia K. Lapidus: None; Puja Chitkara: None; Peter W. Kim: None; Ivona Aksentijevich: None; Elaine F. Remmers: None; Henry Feder: None; Beverly K. Barham: None; Anne Jones: None; Michael M. Ward: None; Karyl S. Barron: None; Daniel L. Kastner: None; Silvia Stojanov: None.