Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome – PFAPA syndrome

Wekell, Per

doi:10.1016/j.lpm.2018.08.016

Cited by 18 publications

(15 citation statements)

References 81 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…On the contrary, only <50% of our patients was referred to a rheumatologic consultation for the presence of periodic fever, remarking that, especially in the first phase of the disease, the clinical phenotype of PFAPA syndrome may not be eloquent. In particular, the periodic pattern of fever is usually recognized tardily, leading to an avoidable diagnostic delay, highlighting the utility of a fever diary in patients with recurrent episodes of fever (15). In absence of a precise diagnosis, almost each febrile episode requires a medical examination, and, as resulted from our analysis, a large part of the patients needed to access to the emergency department (45%) or to be hospitalized (37.5%).…”

Section: Discussionmentioning

confidence: 99%

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA): A Clinical Challenge for Primary Care Physicians and Rheumatologists

2019

View full text Add to dashboard Cite

Objective: To show the different physician's approaches and the difficulties in the diagnosis and management of the Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) syndrome, and to quantify the impact of the disease on the families and on the healthcare system. Study Design: Retrospective analysis on 40 patients diagnosed with PFAPA, focusing on the clinical phenotype, the process of diagnosis, and the management of the febrile episodes. The direct and indirect annual economic cost related to PFAPA in the period preceding the diagnosis were also investigated. Results: The median age of patients at disease onset was 1.75 years and the median time to diagnosis was 14.5 months. During the diagnostic process, only 45% of our patients was firstly addressed to rheumatologic consultation, 32.5% to otorinolaryngologist (ORL), and 22.5% to immunologic consultation. Genetic investigations were performed in the 20% of the cohort. Overall population experienced a median of 60 annual days of fever and, during the critical phase, 40% of patients received more than 5 cycles of antibiotic/year. Seventy five percent required laboratory investigations, 18 (45%) needed to access to emergency department and 15 (37.5%) have been hospitalized. The annual mean direct cost was 1659.5 € for each patient, and the estimated mean indirect cost was 5811.6 € for each parent. Conclusion: Despite a benign clinical course, PFAPA syndrome is associated with a significant impact on the patients, their families and the national healthcare system. PFAPA patients require a large number of medical examinations and laboratory or instrumental investigations during the diagnostic approach and often receive inappropriate treatments. Therefore, we suggest the necessity of a greater awareness and knowledge of the disease among primary care physicians and, finally, of the adoption of more specific diagnostic criteria.

show abstract

Section: Discussionmentioning

confidence: 99%

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA): A Clinical Challenge for Primary Care Physicians and Rheumatologists

2019

View full text Add to dashboard Cite

show abstract

“…Age-based anemia, low serum albumin, elevated ALT, and elevated leukocytes are supplemental laboratory criteria for diagnosing IKD in patients with elevated CRP and ESR, with a normal echocardiogram (28,29). In PFAPA patients, elevated CRP with normal procalcitonin was found (30). However, these criteria are also observed in SoJIA.…”

Section: Discussionmentioning

confidence: 99%

Severe Recurrent Fever Episodes With Clinical Diagnosis of Hemophagocytic Lymphohistiocytosis, Incomplete Kawasaki Disease and Systemic-Onset Juvenile Idiopathic Arthritis: A Case Report and Literature Review

Jiang

Yang

2020

Front. Pediatr.

View full text Add to dashboard Cite

The pathogeneses of recurrent fever are quite complicated when excluding repeated infections. Recurrent fever is a common symptom for autoinflammatory diseases, relapse of Systemic-onset juvenile idiopathic arthritis (SoJIA) and recurrent Kawasaki disease (KD). There are no specific diagnostic laboratory tests for the diseases. Some studies showed that KD was the precursor of hemophagocytic lymphohistiocytosis (HLH). Macrophage activation syndrome (MAS) is another form of HLH in SoJIA. Cytokine disturbances are considered to be involved in the pathogenesis of the diseases. We describe a Chinese female toddler that developed three separate fever episodes with eventual diagnose of SoJIA within about 10 months. The first episode was diagnosed as IKD, immunoglobulin nonresponsive KD, and HLH. The second and third episodes were diagnosed as IKD and SoJIA, respectively. The fever was hard to be relieved by antipyretics, and the peak axillary temperature was above 40 • C. For every fever episode, infections were excluded. For the first episode, trends over time of hemoglobin, platelets, fibrinogen, and triglycerides indicated HLH, which was finally diagnosed and treated according to the HLH-2004 protocol. For the second episode 6 months later, after excluding an HLH relapse and infections, IKD was finally diagnosed. Oral aspirin was administered, and the HLH treatment was ceased. The third episode occurred 3 months later, and SoJIA was finally diagnosed. For each episode, except for relative tests, we only tested for cytokines interleukin-1β, interleukin-6, and interferon-γ, due to limited laboratory test availability. These cytokines were elevated during remission and rose much higher in the fever phases. The case showed the difficulty to differentiating the recurrent fever in clinical practice. Surveillance of routine laboratory parameters over time might reveal a trend that indicates possible disease, even when parameter values Jiang and Yang Severe Recurrent Fever Episodes do not meet diagnostic criteria. Changes in cytokine profiles are promising markers for differentiating recurrent fever diseases in future. An unknown immunological defect for the case may contribute to the recurrent immunological insults, and we are following up the recurrence of fever episode.

show abstract

“…En el caso clínico de la paciente, se ve ejemplificado el protocolo de diagnóstico del síndrome PFAPA, donde no son necesarias pruebas específicas de laboratorio o gabinete, pero sí deben descartarse otras causas frecuentes de fiebre periódica dentro del diagnóstico diferencial (4,10). Según un grupo de expertos en reumatología pediátrica, el tratamiento de rescate más efectivo para reducir la duración e intensidad de las crisis son los esteroides orales, como la Prednisona a 1-2 mg/kg.…”

Section: Discussionunclassified

“…Actualmente, es la causa más frecuente de fiebre periódica de origen autoinflamatorio en población pediátrica. Tiene una incidencia de 2,3 por cada 10 000 infantes hasta los cinco años de edad y se presenta con mayor frecuencia en varones (1)(2)(3)(4)(5). Su fisiopatología involucra factores genéticos, inmunológicos e infecciosos.…”

Section: Síndrome Pfapaunclassified

Colchicina como tratamiento del síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis cervical pediátrico (PFAPA)

2020

View full text Add to dashboard Cite

El síndrome fiebre periódica, estomatitis aftosa, faringitis y adenitis cervical (PFAPA) es un tipo frecuente de fiebre recurrente en infantes. Entre las opciones de tratamiento se encuentran: antiinflamatorios no esteroideos, cimetidina, esteroides, colchicina y la amigdalectomía. La colchicina funciona como un modulador del sistema inmunológico, sin producir inmunosupresión, y es el tratamiento profiláctico de elección en el PFAPA, disminuyendo la duración e intensidad de las crisis febriles y aumentando el intervalo entre episodios.

show abstract

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome – PFAPA syndrome

Cited by 18 publications

References 81 publications

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA): A Clinical Challenge for Primary Care Physicians and Rheumatologists

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA): A Clinical Challenge for Primary Care Physicians and Rheumatologists

Severe Recurrent Fever Episodes With Clinical Diagnosis of Hemophagocytic Lymphohistiocytosis, Incomplete Kawasaki Disease and Systemic-Onset Juvenile Idiopathic Arthritis: A Case Report and Literature Review

Colchicina como tratamiento del síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis cervical pediátrico (PFAPA)

Contact Info

Product

Resources

About