PFAPA: Periodic Fever, Aphthous Ulceration, Pharyngitis, Adenitis

2019 ◽  
pp. 27-44
Author(s):  
Jeffrey Chaitow
Keyword(s):  
Periodic Fever ◽  
Aphthous Ulceration

scholarly journals An Underlooked Cause of Periodic Fever (PFAPA) in an Adult Patient with No Response to Tonsillectomy

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Fiaz Alam ◽  
Mohammed Hammoudeh
Keyword(s):  
Periodic Fever ◽  
Age Groups ◽  
Febrile Illness ◽  
High Dose ◽  
Age Group ◽  
Pediatric Age ◽  
Pediatric Age Group ◽  
Cervical Adenitis ◽  
Aphthous Ulceration ◽  
Febrile Episodes

Periodic fever with aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is an autoinflammatory disease manifested as recurrent febrile episodes associated with one of the following cardinal features: aphthous ulceration, pharyngitis, and cervical adenitis. It was initially described in children and thought to be a disease of pediatric age group. Few adult cases were also reported in the literature. We describe the case of a 39-year-old female affected by PFAPA who presented with a history of febrile episodes associated with aphthous ulceration, stomatitis, and tonsillitis for 4 years. The febrile episodes occurred at a regular interval of 4 weeks and resolved within 5 days. The patient underwent tonsillectomy without any significant improvement. The patient responded only to a single high dose of steroid during the attack. Although PFAPA was initially thought to be a disease of pediatric age group, it should be considered in patients with recurrent febrile illness in all age groups.

Familial Periodic Fever Syndromes Erupt on Skin

2007 ◽  
Vol 38 (9) ◽  
pp. 36-37
Author(s):  
HEIDI SPLETE
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndromes ◽  
Fever Syndromes

AB0980 CASE-REVIEW ON FAMILIAL MEDITERRANEAN FEVER IN A SPECIALIZED CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1784.1-1784
Author(s):  
R. Dos Santos Sobrín ◽  
M. Martí Masanet ◽  
B. Lopez-Montesinos ◽  
L. Lacruz Pérez ◽  
I. Calvo
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Severe Disease ◽  
Strong Association ◽  
Mefv Gene ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Case Review ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder caused mostly by mutations in MEFV gene. Its inheritance is autosomal recessive and is the most frequent periodic fever syndrome. First-line treatment is based in colchicine use, so biologics (anti-IL-1) are reserved for refractory cases1, 2.Objectives:To account for clinic and treatment features of patients with FMF in a specialized center as opposed to non-referent centers.Methods:This study was developed in the Pediatric Rheumatology Service in Hospital Universitario y Politécnico La Fe de Valencia. Demographic, clinic and treatment data were collected from patients diagnosed of FMF since January 2004 to September 2019.Results:106 patients met last FMF criteria3. 55% had a pathogenic mutation in genetic analysis. 52% were female. Before 10 years old, 71% of patients had the diagnosis (51% before 4 years old). Arthralgia/myalgia (73%), periodic fever (62%) and abdominal pain (54%) were the most common symptoms. Systemic Juvenile Idiopathic Arthritis (JIA, 6), other forms of JIA (9) and vasculitis (10) were the most prevalent comorbidities. When talking about treatment, 76,4% received Colchicine (60,5% with good response), 22,6% needed a classical disease modifying antirheumatic drug (mostly Methotrexate) and 22 patients got biologic treatment (73% anti-IL-1).Conclusion:When analyzing this case-review, JIA has a strong association with our patients, so it could explain severe disease activity and more articular involvement. This could be an illustration to the higher use of Methotrexate. Also, the most relevant symptom was arthralgia while fever is the most frequent in literature. Likewise, age of diagnosis has been earlier than other case-series (this would be more frequent in other autoinflammatory syndromes, as literature relates)1, 2, 4.References:[1]Ozdogan H, Ugurlu S. Familial Mediterranean Fever. Presse Med. (2019).[2]Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75:644-651.[3]Sag E, Demirel D, Demir S, et al. Performance of the new “Eurofever/PRINTO classification criteria” in FMF patients. Semin Arthritis Rheum. 2019;19:30369-5.[4]Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol. 2004;22:S75-8.Disclosure of Interests:Raquel Dos Santos Sobrín: None declared, Miguel Martí Masanet: None declared, B Lopez-Montesinos: None declared, Lucía Lacruz Pérez: None declared, Inmaculada Calvo Grant/research support from: Bristol-Myers Squibb, Clementia, GlaxoSmithKline, Hoffman-La Roche, Merck Sharpe & Dohme, Novartis, Pfizer, Sanofi, Speakers bureau: AbbVie, GlaxoSmithKline, Hoffman-La Roche, Novartis

scholarly journals THU0019 INTRON REGIONS OF PIK3AP1 (BCAP) AND SPON2 (SPONDIN-2) GENES ARE DIFFERENTIALLY METHYLATED IN PATIENTS WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA) SYNDROME

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 223.3-223
Author(s):  
E. Lovšin ◽  
J. Kovac ◽  
T. Tesovnik ◽  
N. Toplak ◽  
D. Perko ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Pattern Recognition ◽  
Periodic Fever ◽  
Aphthous Stomatitis ◽  
Extracellular Matrix Protein ◽  
Inflammasome Activation ◽  
Cervical Adenitis ◽  
Pfapa Syndrome ◽  
Pattern Recognition Molecule ◽  
Recognition Molecule

Background:Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is the most common autoinflammatory disease in children, often grouped together with hereditary periodic fever syndromes, although its cause and hereditary nature remain unexplained.Objectives:We investigated whether a differential DNA methylation was present in DNA from peripheral blood mononuclear cells (PBMC) in patients with PFAPA versus a group of healthy young individuals.Methods:A whole epigenome analysis (MeDIP and MBD) was performed using pooled DNA libraries enriched for methylated genomic regions. Of identified candidate genes, two with most significantly different methylation leves were further evaluated with methylation specific restriction enzymes coupled with qPCR (MSRE-qPCR).Results:The analysis showed thatPIK3AP1andSPON2intronic gene regions are differentially methylated in patients with PFAPA. MSRE-qPCR proved as a quick, reliable and cost-effective method to confirm results from MeDIP and MBD.Conclusion:Our findings indicate that B cell adapter protein (BCAP) as PI3K binding inhibitor of inflammation and spondin-2 (SPON2) as a pattern recognition molecule and integrin ligand could play a role in etiology of PFAPA. Their role and impact of changed DNA methylation in PFAPA etiology and autoinflammation need further investigation.References:[1]Wekell P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome – PFAPA syndrome. Press Medicale [Internet]. 2019;48(1):e77–87. Available from:https://doi.org/10.1016/j.lpm.2018.08.016[2]K. Theodoropoulou, F. Vanoni, and M. Hofer, “Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis,”Curr. Rheumatol. Rep., vol. 18:18, 2016.[3]Carpentier SJ, Ni M, Duggan JM, James RG, Cookson BT, Hamerman JA. The signaling adaptor BCAP inhibits NLRP3 and NLRC4 inflammasome activation in macrophages through interactions with Flightless-1. Sci Signal. 2019;12(581).[4]He YW, Li H, Zhang J, Hsu CL, Lin E, Zhang N, et al. The extracellular matrix protein mindin is a pattern-recognition molecule for microbial pathogens. Nat Immunol. 2004;5(1):88–97.Disclosure of Interests:None declared

scholarly journals A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

PLoS Genetics ◽  
2011 ◽  
Vol 7 (3) ◽  
pp. e1001332 ◽  
Author(s):  
Mia Olsson ◽  
Jennifer R. S. Meadows ◽  
Katarina Truvé ◽  
Gerli Rosengren Pielberg ◽  
Francesca Puppo ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome

EFFECT OF CORTICOSTEROIDS ON URINARY 5β AND 5α C19 STEROIDS IN MAN

1964 ◽  
Vol 46 (2) ◽  
pp. 197-206 ◽  
Author(s):  
Hildegard Wilson ◽  
Steven Schenker
Keyword(s):  
Testosterone Propionate ◽  
Periodic Fever ◽  
Term Treatment ◽  
Long Term Treatment ◽  
Dexamethasone Therapy ◽  
Normal Women ◽  
Normal Men ◽  
Short Time

ABSTRACT A high proportion of urinary C19 5β to 5α steroid metabolites has been found on administration of glucocorticoids in a number of instances. During long term treatment with prednisone or dexamethasone, 100 mg testosterone propionate was administered to 3 patients. The ratios of the resulting metabolites etiocholanolone (E, 5β) to androsterone (A, 5α) were 2.7, 3.3 and 2.1, compared to 1.3 and 0.9 after withdrawal of corticoids from the first 2 patients. In 3 normal men, ratios of endogenously derived E and A while receiving corticoids, compared to control ratios were 2.3 to 1.0, 2.2 to 0.6 and 1.2 to 0.9. Ratios in normal women rose from 1.1 to 2.2 and 2.4 to 4.3 on receiving dexamethasone. Not all subjects gave the expected response. In 3 of these the dosage of corticoid was either low or given for a short time. The ratio of C19O3 metabolites of administered 11β-hydroxy-androst-4-ene-3,17-dione was also changed in favour of the 5β products during corticoid treatment. In a man with periodic fever the high E/A ratios observed were probably related to dexamethasone therapy rather than to the disease.

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