Children and Adults with PFAPA Syndrome: Similarities and Divergences in a Real-Life Clinical Setting

Sicignano, Ludovico Luca; Rigante, Donato; Moccaldi, Beatrice; Massaro, Maria Grazia; Noci, Stefano Delli; Patisso, Isabella; Capozio, Giovanna; Verrecchia, Elena; Manna, Raffaele

doi:10.1007/s12325-020-01576-8

Cited by 15 publications

(14 citation statements)

References 41 publications

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“…Although the onset of the disease before the age of 5 is a mandatory criterion according to the modified Marshall’s criteria, there is an increasing number of papers reporting adult-onset PFAPA syndrome. 4 , 19 Hofer et al 12 reported that 10% of their patients that were classified as PFAPA patients based on expert opinion had disease onset after 5 years of age and the patients with late-onset disease showed similar clinical features compared with patients with disease onset before 5 years of age. Based on these findings, the authors suggested that age is not a reason for exclusion.…”

Section: Discussionmentioning

confidence: 99%

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome: A Single-Center Experience

Yıldız

Haşlak

Adroviç

et al. 2021

Turk Arch Pediatrics

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Objective: The purpose of this study is to share our experience about clinical findings, natural course, and treatment response rates of a large cohort of patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. Materials and Methods: Medical records of patients who were diagnosed with PFAPA syndrome between January 2010 and May 2021 at Istanbul University-Cerrahpasa Cerrahpasa Medical Faculty pediatric rheumatology department were reviewed retrospectively. Results: A total of 607 patients (females: 277, males: 330) with PFAPA syndrome were included. The median duration of episodes was 3 (1-15; interquartile range (IQR) 3-5) days, and the median interval between episodes was 20 days (5-120; IQR 15-30). The median age at the last attack and median disease duration were 66 (24-168; IQR 48-84) months and 40 (4-132; IQR 27.5-60) months, respectively. Fever (100%) was the most common clinical finding, followed by pharyngitis/exudative tonsillitis in 594 (97.9%), aphthous stomatitis in 308 (50.7%), cervical lymphadenopathy in 278 (45.8%), abdominal pain in 249 (41%), and arthralgia in 228 (37.6%) of the patients. Among the clinical findings, there was no statistical difference according to gender, except for cervical lymphadenitis being higher in males ( P < .001). Of the patients who were given steroids during attacks, 94.6% were responsive. Colchicine was effective in 93 (63.7%) patients. The disease episodes ceased in 313 (95.4%) of patients who had tonsillectomy/adenoidectomy. Conclusions: Clinicians should be alert for additional symptoms such as abdominal pain, arthralgia, and headache apart from the cardinal signs. Although tonsillectomy is highly effective, its use is controversial. Colchicine may be a good alternative for prophylaxis.

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Section: Discussionmentioning

confidence: 99%

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome: A Single-Center Experience

Yıldız

Haşlak

Adroviç

et al. 2021

Turk Arch Pediatrics

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“…66 The discrimination between PFAPA syndrome and cyclic neutropenia may be particularly challenging, as it requires a painstaking collection of clinical and laboratory data, and this challenge also involves the area of internal medicine, as PFAPA symptoms have been reported even in adulthood. [67][68][69] There is a need for universal diagnostic criteria of PFAPA syndrome, which can be valid for both children and adults. Febrile flares of mevalonate kinase deficiency can closely resemble PFAPA syndrome and cyclic neutropenia, but the presence of significant diarrhea or vomiting, lymphadenopathy outside of the cervical area and episodes triggered by immunizations may steer the diagnosis towards mevalonate kinase deficiency.…”

Section: How To Put Children With Recurrent Fevers In Differential Diagnosismentioning

confidence: 99%

Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management

Lazzareschi

Rossi

Curatola

et al. 2022

Mediterr J Hematol Infect Dis

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A disparate group of rare hematological diseases characterized by impaired maturation of neutrophil granulocytes defines congenital neutropenias. Neutropenic patients are prone to recurrent infections beginning in the first months of life. Of interest is “cyclic neutropenia”, an ultra-rare disorder revealed by sinusoidal variations of the neutrophil count and periodically-recurring infections every 21 days. Diagnosis of these disorders is frequently obscured by the multiple causes of recurrent fevers in children. Aim of this overview is to outline the physical assessment of children presenting with early-onset symptomatic neutropenia, identify the disease between the many medical conditions and even emergencies which should enter in differential diagnosis, hint at the potential management with granulocyte-colony stimulating factor, define the risk of evolution to hematologic malignancy, and summarize inter-professional team strategies for improving care coordination and outcomes of such patients.

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“…In einer aktuellen retrospektiven Analyse (2010-2020) von Sicignano et al [61] wurde eine Kohorte von 120 Kindern und 63 Erwachsenen mit PFAPA-Syndrom untersucht. In dieser Studie lag das mittlere Erkrankungsalter bei Kindern zwischen 2,4 ± 1,5 Jahren; bei 94 % der Kinder heilte die Erkrankung ohne Folgeerscheinungen aus (mittleres Alter der Symptomfreiheit 6,4 Jahre).…”

Section: Besonderheiten Bei Kindernunclassified

“…Die Erkrankung hat einen variablen Verlauf mit häufiger Spontanremissionsrate, die die körperliche Entwicklung nicht beeinträchtigt [62]. In der Studie von Sicignano et al [61] wiesen annährend 100 % der adulten und pädiatrischen Patient*innen eine Pharyngitis auf, die Prävalenz einer exsudativen Verlaufsform war bei Kindern jedoch signifikant erhöht (58,8 % vs. 5 %). Des Weiteren lagen bei der Mehrheit der Kinder während der Schübe nur zwei Kardinalsymptome vor.…”

Section: Besonderheiten Bei Kindernunclassified

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Autoinflammation – Unterschiede bei Kindern und Erwachsenen

Krusche

Kallinich

2021

Z Rheumatol

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Autoinflammation-differences between children and adultsAutoinflammatory diseases present as multisystemic inflammation and often manifest in early childhood. In contrast, in a few diseases, e.g., the recently described VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, the first symptoms occur exclusively in adulthood. This article describes how the phenotypic expression and severity of individual autoinflammatory diseases differ depending on age. Furthermore, differences in the development of organ damage in children and adults are pointed out. In addition to the hereditary periodic fever syndromes, the clinical picture of deficiency of adenosine deaminase 2, the interferonopathies, periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome as well as VEXAS and Schnitzler syndromes are highlighted.

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Children and Adults with PFAPA Syndrome: Similarities and Divergences in a Real-Life Clinical Setting

Cited by 15 publications

References 41 publications

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome: A Single-Center Experience

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome: A Single-Center Experience

Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management

Autoinflammation – Unterschiede bei Kindern und Erwachsenen

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