The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Francesco Zulian - One of the best experts on this subject based on the ideXlab platform.
-
Tonsillectomy efficacy in children with PFAPA Syndrome is comparable to the standard medical treatment: a long-term observational study.
Clinical and experimental rheumatology, 2014Co-Authors: G Vigo, Giorgia Martini, Silvia Zoppi, F Vittadello, Francesco ZulianAbstract:OBJECTIVES Tonsillectomy has recently been suggested as an effective treatment for PFAPA Syndrome but little is known about its long-term efficacy. We compared the clinical features and the long-term outcome of a large cohort of patients with PFAPA Syndrome treated with tonsillectomy or with standard medical treatment. METHODS We conducted a retrospective study on patients with PFAPA Syndrome followed at a tertiary care centre from January 1993 to August 2010. Clinical characteristics and laboratory parameters were evaluated at onset and during the follow-up. Disease outcomes of patients who underwent tonsillectomy and of those treated with medical therapy (NSAIDs, prednisone) were compared. Clinical remission on medication (CRM) was considered the persistence of fever attacks which were well controlled by medical therapy, clinical remission (CR) was defined as the absence of fever attacks, without any treatment, for more than 12 months. RESULTS 275 patients with PFAPA Syndrome, 59.6% males, aged 27.9 months at onset and followed for mean 54.5 months, entered the study. CR was reported in 59.6% of the patients and was significantly less frequent in those with positive family history for PFAPA (46.4% vs. 66.1%, p=0.003). 27/41 patients (65.9%), responded to tonsillectomy and this result was comparable with that observed in those treated with medical therapy (59.1%, p=0.51). Disease duration, age at remission or presence of associated symptoms were not significantly different in both groups. No predictors of tonsillectomy failure were found. CONCLUSIONS In a large cohort of patients with PFAPA Syndrome, tonsillectomy efficacy was comparable to the standard medical treatment.
-
Tonsillectomy efficacy is comparable to the standard medical treatment in PFAPA Syndrome
Pediatric Rheumatology, 2011Co-Authors: G Vigo, Giorgia Martini, Silvia Zoppi, F Vittadello, Francesco ZulianAbstract:Methods We conducted a retrospective study on patients with clinical diagnosis of PFAPA Syndrome followed at a tertiary center from January 1993 to August 2010. Clinical and laboratory parameters have been evaluated at onset and during the follow-up. Disease remission was considered as the absence of symptoms for at least one year. Disease outcome in patients who underwent tonsillectomy was compared to those treated with standard medical therapy (NSAIDs, prednisone).
-
Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
Pediatrics, 2009Co-Authors: Marco Gattorno, Roberta Caorsi, Antonella Meini, Marco Cattalini, Silvia Federici, Francesco Zulian, Elisabetta Cortis, G Calcagno, Alberto Tommasini, Rita ConsoliniAbstract:OBJECTIVES: To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) Syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA Syndrome with higher probabilities of carrying relevant mutations in genes associated with periodic fevers. METHODS: Complete clinical and genetic information was available for 393 children with periodic fever; 82 had positive genetic test results, 75 had incomplete genetic test results, and 236 had negative results for MVK, TNFRSF1A, and MEFV mutations. Current diagnostic criteria for PFAPA Syndrome were applied. RESULTS: Of 393 children, 210 satisfied PFAPA Syndrome criteria; 43 carried diagnostic mutations (mevalonate kinase deficiency: n = 33; tumor necrosis factor receptor-associated periodic Syndrome: n = 3; familial Mediterranean fever: n = 7), 37 displayed low-penetrance mutations or incomplete genotypes, and 130 demonstrated negative genetic testing results. Genetically positive patients had higher frequencies of abdominal pain and diarrhea (P CONCLUSION: The Gaslini diagnostic score represents a useful tool to identify patients meeting PFAPA Syndrome criteria and at low risk of carrying relevant mutations in genes associated with periodic fevers.
-
Evidences for the need of new Diagnostic Criteria for PFAPA Syndrome.
Pediatric Rheumatology, 2008Co-Authors: Roberta Caorsi, Antonella Meini, Marco Cattalini, Francesco Zulian, Elisabetta Cortis, G Calcagno, Alberto Tommasini, Maria Pia Sormani, Ma Pelagatti, Francesco TraversoAbstract:Objective The clinical manifestations of PFAPA Syndrome largely overlap with those of monogenic Autoinflammatory diseases: Familial Mediterranean Fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic Syndrome (TRAPS) and Mevalonate kinase deficiency (MKD). Aim of this study is to evaluate the specificity of the available diagnostic criteria for PFAPA. Patients and methods 307 consecutive patients with a clinical history of periodic fever were screened for mutations of MVK, TNFRSF1A and MEFV genes and detailed clinical information was collected. PFAPA diagnostic criteria were applied in all these patients. The clinical parameters associated with an high risk to be affected by an Autoinflammatory disease were identified on the basis of a univariate and multivariate analysis in both genetically positive and negative patients complying PFAPA criteria. Results 133 out of 307 patients satisfying PFAPA criteria. 33 carried relevant mutations on the screened genes (27 MKD, 3 TRAPS, 3 FMF), 28 were heterozygous for MEFV mutations, 7 carried R92Q mutation of TNFRSF1A gene, showing the low specificity of current criteria. Rash (OR = 2.975, p = 0.009), abdominal pain (OR = 3.261, p = 0.005) and vomiting (OR = 2.445, p = 0.3) were the variables most correlated to the positivity at the genetic test. Conclusion Current PFAPA criteria display a low specificity. According to this study, the presence of gastrointestinal manifestations and skin rash in patients fulfilling the current PFAFA criteria should orientate towards the exclusion of monogenic periodic fevers by molecular analysis. Consistent modifications of ongoing clinical criteria are proposed.
Michael Hofer - One of the best experts on this subject based on the ideXlab platform.
-
Why and How Should We Treat Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome?
Pediatric Drugs, 2020Co-Authors: Michael HoferAbstract:Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) Syndrome is characterized by recurrent fever flares accompanied by symptoms and signs forming the disease acronym and alternating with asymptomatic periods. Despite the disease having a generally favorable outcome, with spontaneous remission after a few years, it does have a major impact on the quality of life of the child and his or her relatives. Beside symptomatic medications during fever flares, the most used treatment consists of a single dose of corticosteroids at flare onset to interrupt the attack; fever resolves usually within a few hours, but often with a shorter interval between the attacks. For these patients, colchicine has been shown to decrease the frequency of the flares. Other medications were also reported in case series of patients with PFAPA Syndrome. These include the interleukin-1 blocker anakinra to treat flares, cimetidine (which showed no convincing effect), and other drugs with anecdotal use. The pediatrician faces a difficult question: should they wait for spontaneous disease resolution and only treat the flares medically, or should they propose tonsillectomy that may induce remission? Due to the lack of strong evidence, the answer will vary on an individual basis, depending on the impact on the patient’s quality of life. The choice of the best therapeutic strategy will be based on the response to the flare-based therapy and on disease severity (quality of life, school performances); long-term data on the remission rate under the different therapeutic strategies are currently missing. More randomized controlled studies are needed to help the treating physician to choose the best therapy, as well as real-life long-term data to evaluate the long-term outcome of children with PFAPA Syndrome.
-
Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Syndrome
Textbook of Autoinflammation, 2019Co-Authors: Kathryn M. Edwards, Michael HoferAbstract:Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) Syndrome is a recurrent fever Syndrome that usually starts in early childhood. Episodes occur every 4–6 weeks and spontaneously resolve in 3–6 days. During episodes, children have elevated acute phase reactants that return to normal between episodes. Children with PFAPA grow and develop normally, are not more susceptible to infections, and exhibit no long-term sequelae. Since its initial description in 1987, numerous cases of PFAPA have been reported throughout the world and understanding of the Syndrome has greatly increased. The epidemiology, theories on causation, clinical manifestations, and therapeutic options for PFAPA will the discussed in this chapter.
-
SAT0507 EVALUATION OF THE NEW CLASSIFICATION CRITERIA FOR PFAPA Syndrome
Saturday 15 June 2019, 2019Co-Authors: Fabio Crimi, Michael Hofer, Isabelle Koné-paut, Véronique Hentgen, Sophie Georgin-lavialle, Manel Mejbri, Glory Dingulu, Pascal Pillet, JircohorteAbstract:Background: Modified Marshall criteria used for PFAPA Syndrome have never been validated and are little used by the experts because the symptoms of monogenic fevers often overlap with PFAPA ones. A new set of classification criteria based on an international survey and a consensus conference in Genoa was developed in 2018. Objectives: Evaluate the performance of the new criteria in a real-life setting Methods: This is a multicentric, prospective and descriptive cohort study, through the recurrent fever module of the JIRcohorte platform. 417 patients diagnosed with PFAPA (187), monogenic fever Syndromes (167) or unclassified recurrent fever Syndrome (UPF=63) from Swiss and French centers were enrolled in the study. The new classification criteria were applied to this cohort and we calculated their performance. We then analyzed which of the criteria performed the less well. Results: One hundred fourteen from 187 (61%) PFAPA patients met the new criteria, as well as 20/230 non-PFAPA patients (FMF: 3, MKD: 4, UPF: 13); 73 PFAPA patients did not meet the criteria. We calculated a specificity of 91.3% and a sensitivity of 60.9%. The least satisfied criterion among PFAPA patients not meeting the criteria was “absence of skin rash”. By removing this criterion, the sensitivity improved (81.2%), but the specificity decreased slightly to 86%. Conclusion: Genoa 2017 classification criteria for PFAPA Syndrome showed a good specificity but an insufficient sensitivity. Excluding the less satisfied criterion, the set reaches a sensitivity and specificity around 80% which could be a fair compromise for PFAPA classification criteria. Our study highlights the difficulty in establishing classification criteria due to the lack of gold standard for PFAPA diagnosis. References [1] Vanoni F, Federici S, Anton J, Barron K, Brogan P, De Benedetti F, Dedeoglu F, Demirkaya E, Hentgen V, Kallinich T, Laxer R, Russo R, Toplak N, Uziel Y, Martini A, Ruperto N, Gattorno M, Hofer M. An international Delphi survey for the definition of the variables for the development of new classification criteria for Periodic Fever Aphthous stomatitis Pharyngitis Cervical Adenitis (PFAPA). Pediatr Rheumatol Online J. 2018, 16(1):27. Disclosure of Interests: Fabio Crimi: None declared, Manel Mejbri: None declared, Veronique Hentgen Consultant for: SOBI, Novartis, Abbvie, Speakers bureau: Novartis, Glory Dingulu: None declared, Isabelle Kone-Paut Grant/research support from: SOBI has supported drug product (anakinra) for the presented study, Consultant for: SOBI, Novartis, Pfizer, Abbvie, UCB, CHUGAI, ROCHE, Sophie Georgin-Lavialle Consultant for: novartis, sobi, Speakers bureau: novartis, sobi, Pascal Pillet: None declared, michael hofer Grant/research support from: novartis, SOBI, Consultant for: Novartis, SOBI
-
PFAPA Syndrome: a review on treatment and outcome
Pediatric Rheumatology, 2016Co-Authors: Federica Vanoni, Katerina Theodoropoulou, Michael HoferAbstract:The Syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA Syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious in the management of fever episodes, colchicine, for the prophylaxis of febrile episodes, and other medication for which efficacy has not been proven so far. Tonsillectomy is an option for selected patients. Usually PFAPA Syndrome resolves during adolescence, but there is increasing evidence that this condition may persist into adulthood.
-
Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis
Current Rheumatology Reports, 2016Co-Authors: Katerina Theodoropoulou, Federica Vanoni, Michael HoferAbstract:PFAPA Syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease. Moreover, in contrast with previous considerations, the strong familial clustering suggests a potential genetic origin rather than a sporadic disease. In addition, the presence of variants in inflammasome-related genes, mostly in NLRP3 and MEFV , suggests a possible role of inflammasome-composing genes in PFAPA pathogenesis. However, none of these variants seem to be relevant, alone, to its etiology, indicating a high genetic heterogeneity as well as an oligogenic or polygenic genetic background.
Luca Cantarini - One of the best experts on this subject based on the ideXlab platform.
-
Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) Syndrome in children and adults: a narrative review
Clinical Rheumatology, 2019Co-Authors: Carla Gaggiano, Donato Rigante, Jurgen Sota, Salvatore Grosso, Luca CantariniAbstract:Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) Syndrome is the most frequent non-hereditary autoinflammatory disorder in childhood: Its onset is usually observed before 5 years, though reports regarding adulthood are increasing. The pathogenesis of the Syndrome is not completely understood, but a multifactorial origin, probably based on a polygenic pattern of susceptibility, is the most probable rational pathogenetic hypothesis. Treatment of PFAPA Syndrome relies on the administration of low-dose corticosteroids, which promptly abort flares but cannot prevent subsequent disease episodes over time. Tonsillectomy with or without adenoidectomy has proved to be successful in some pediatric patients, as proven by different studies. On the other hand, colchicine, cimetidine, nonsteroidal anti-inflammatory drugs, and interleukin-1 inhibitors have shown efficacy, which require further definite confirmations. This review is aimed at summarizing all the recent evidence about treatment options available for PFAPA Syndrome both in pediatric and adult patients.
-
Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome.
Frontiers in Immunology, 2017Co-Authors: Luca Cantarini, Ludovico Luca Sicignano, Elena Verrecchia, Isabella Patisso, Gabriele Cevenini, Giacomo Emmi, Claudia Fabiani, Antonio Vitale, Lucia Cerrito, Bruno FredianiAbstract:Objective: To identify a set of variables that could discriminate patients with adult-onset PFAPA Syndrome from subjects with fever of unknown origin (FUO). Methods: We enrolled 74 adults diagnosed with PFAPA Syndrome according to the currently used pediatric diagnostic criteria and 62 additional patients with FUO. After having collected clinical and laboratory data from both groups, monovariate and multivariate analysis was performed in order to identify the variables associated with PFAPA diagnosis. Odds ratio (OR) values, their statistical significance and corresponding 95% confidence interval (CI) were evaluated for each diagnostic factor both at the monovariate and multivariate analysis. Diagnostic accuracy was evaluated by the area under receiver operating characteristic curve, while the leave-one-out cross-validation procedure was used to ensure that the model maintains the same diagnostic power when applied to new data Results: According to the multivariate analysis, the clinical variables that discriminated PFAPA patients were: fever episodes associated with cervical lymphadenitis (OR=92; p
-
diagnostic criteria for adult onset periodic fever aphthous stomatitis pharyngitis and cervical adenitis PFAPA Syndrome
Frontiers in Immunology, 2017Co-Authors: Luca Cantarini, Ludovico Luca Sicignano, Elena Verrecchia, Isabella Patisso, Gabriele Cevenini, Giacomo Emmi, Claudia Fabiani, Antonio Vitale, Lucia Cerrito, Bruno FredianiAbstract:Objective: To identify a set of variables that could discriminate patients with adult-onset PFAPA Syndrome from subjects with fever of unknown origin (FUO). Methods: We enrolled 74 adults diagnosed with PFAPA Syndrome according to the currently used pediatric diagnostic criteria and 62 additional patients with FUO. After having collected clinical and laboratory data from both groups, monovariate and multivariate analysis was performed in order to identify the variables associated with PFAPA diagnosis. Odds ratio (OR) values, their statistical significance and corresponding 95% confidence interval (CI) were evaluated for each diagnostic factor both at the monovariate and multivariate analysis. Diagnostic accuracy was evaluated by the area under receiver operating characteristic curve, while the leave-one-out cross-validation procedure was used to ensure that the model maintains the same diagnostic power when applied to new data Results: According to the multivariate analysis, the clinical variables that discriminated PFAPA patients were: fever episodes associated with cervical lymphadenitis (OR=92; p<0.0001), fever attacks associated with erythematous pharyngitis (OR=231; p<0.0001), increased inflammatory markers during fever attacks (OR=588; p=0.001) and the lack of clinical and laboratory signs of inflammation between flares (OR=1202; p<0.0001). These variables were considered for a diagnostic model which accounted for their OR values. The diagnostic accuracy of the proposed set of criteria corresponded to an area under receiver operating characteristic curve of 0.978 (95% CI 0.958-0.998), with a model sensitivity and specificity equal to 93.4% (95% CI 87.5%-96.5%) and 91.7% (95% CI 82.8%-96.7%), respectively. Conclusions: we have provided herein a set of clinical diagnostic criteria for adult-onset PFAPA Syndrome. Our criteria represent an easy-to-use diagnostic tool aimed at identifying PFAPA patients among subjects with FUO with a high predictive potential, as shown by its very high sensitivity and specificity.
-
Challenges and new horizons in the periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) Syndrome
Expert Opinion on Orphan Drugs, 2017Co-Authors: Stefano Gentileschi, Bruno Frediani, Antonio Vitale, Mauro Galeazzi, Donato Rigante, Luca CantariniAbstract:ABSTRACTIntroduction: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) Syndrome is a multifactorial autoinflammatory disorder representing a true challenge for differential diagnosis of fevers of unknown origin among children.Areas covered: Although current diagnostic criteria confine PFAPA Syndrome into the pediatric world, recent evidences have suggested the possible onset of this disease during adulthood as well as the possible relapse over time after spontaneous or treatment-induced resolution in childhood. The number of treatment choices currently available is growing significantly. In this regard, inhibition of interleukin (IL)-1 represents an intriguing promise for PFAPA patients who do not respond to standard therapy or for whom corticosteroid administration is unsuitable.Expert opinion: The challenges associated with the discovery of pathogenetic pathways and treatment alternatives in PFAPA Syndrome are immense, reflected by the small number of studies currently in progress. ...
-
Evolving Frontiers in the Treatment of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome.
The Israel Medical Association journal : IMAJ, 2017Co-Authors: Donato Rigante, Antonio Vitale, Stefano Gentileschi, Giusyda Tarantino, Luca CantariniAbstract:BACKGROUND Fevers recurring at a nearly predictable rate every 3-8 weeks are the signature symptom of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) Syndrome, an acquired autoinflammatory disorder which recurs in association with at least one sign among aphthous stomatitis, pharyngitis, and/or cervical lymph node enlargement without clinical signs related to upper respiratory airways or other localized infections. The disease usually has a rather benign course, although it might relapse during adulthood after a spontaneous or treatment-induced resolution in childhood. The number of treatment choices currently available for PFAPA Syndrome has grown in recent years, but data from clinical trials dedicated to this disorder are limited to small cohorts of patients or single case reports. The response of PFAPA patients to a single dose of corticosteroids is usually striking, while little data exist for treatment with cimetidine and colchicine. Preliminary interesting results have been published with regard to vitamin D supplementation in PFAPA Syndrome, while inhibition of interleukin-1 might represent an intriguing treatment for PFAPA patients who have not responded to standard therapies. Tonsillectomy has been proven curative in many studies related to PFAPA Syndrome, although the evidence of its efficacy is not widely shared by different specialists, including pediatricians, rheumatologists and otorhynolaryngologists.
Véronique Hentgen - One of the best experts on this subject based on the ideXlab platform.
-
Do we need the PFAPA Syndrome in adults with non-monogenic periodic fevers?
Annals of the Rheumatic Diseases, 2019Co-Authors: Antoine Fayand, Isabelle Koné-paut, Véronique Hentgen, Stéphanie Ducharme-bénard, Pierre Quartier, Brigitte Bader-meunier, Gilles Grateau, Sophie Georgin-lavialleAbstract:We read with great interest the article by Gattorno et al proposing a new set of criteria for the classification of autoinflammatory recurrent fevers.1 This year’s Paediatric Rheumatology INternational Trials Organisation(PRINTO) criteria are the third set of criteria for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) Syndrome in 3 years.1–3 While these three different sets share common points, they also include distinct clinical features, thus resulting in discrepancies in the classification of patients. To illustrate this issue, we report the clinical characteristics of a cohort of 34 consecutive adult patients (see table 1) followed in our centre between 2010 and 2018, and diagnosed with PFAPA based on the modified Marshall’s criteria4 (available as online supplementary material) with the exclusion of age at onset. …
-
SAT0507 EVALUATION OF THE NEW CLASSIFICATION CRITERIA FOR PFAPA Syndrome
Saturday 15 June 2019, 2019Co-Authors: Fabio Crimi, Michael Hofer, Isabelle Koné-paut, Véronique Hentgen, Sophie Georgin-lavialle, Manel Mejbri, Glory Dingulu, Pascal Pillet, JircohorteAbstract:Background: Modified Marshall criteria used for PFAPA Syndrome have never been validated and are little used by the experts because the symptoms of monogenic fevers often overlap with PFAPA ones. A new set of classification criteria based on an international survey and a consensus conference in Genoa was developed in 2018. Objectives: Evaluate the performance of the new criteria in a real-life setting Methods: This is a multicentric, prospective and descriptive cohort study, through the recurrent fever module of the JIRcohorte platform. 417 patients diagnosed with PFAPA (187), monogenic fever Syndromes (167) or unclassified recurrent fever Syndrome (UPF=63) from Swiss and French centers were enrolled in the study. The new classification criteria were applied to this cohort and we calculated their performance. We then analyzed which of the criteria performed the less well. Results: One hundred fourteen from 187 (61%) PFAPA patients met the new criteria, as well as 20/230 non-PFAPA patients (FMF: 3, MKD: 4, UPF: 13); 73 PFAPA patients did not meet the criteria. We calculated a specificity of 91.3% and a sensitivity of 60.9%. The least satisfied criterion among PFAPA patients not meeting the criteria was “absence of skin rash”. By removing this criterion, the sensitivity improved (81.2%), but the specificity decreased slightly to 86%. Conclusion: Genoa 2017 classification criteria for PFAPA Syndrome showed a good specificity but an insufficient sensitivity. Excluding the less satisfied criterion, the set reaches a sensitivity and specificity around 80% which could be a fair compromise for PFAPA classification criteria. Our study highlights the difficulty in establishing classification criteria due to the lack of gold standard for PFAPA diagnosis. References [1] Vanoni F, Federici S, Anton J, Barron K, Brogan P, De Benedetti F, Dedeoglu F, Demirkaya E, Hentgen V, Kallinich T, Laxer R, Russo R, Toplak N, Uziel Y, Martini A, Ruperto N, Gattorno M, Hofer M. An international Delphi survey for the definition of the variables for the development of new classification criteria for Periodic Fever Aphthous stomatitis Pharyngitis Cervical Adenitis (PFAPA). Pediatr Rheumatol Online J. 2018, 16(1):27. Disclosure of Interests: Fabio Crimi: None declared, Manel Mejbri: None declared, Veronique Hentgen Consultant for: SOBI, Novartis, Abbvie, Speakers bureau: Novartis, Glory Dingulu: None declared, Isabelle Kone-Paut Grant/research support from: SOBI has supported drug product (anakinra) for the presented study, Consultant for: SOBI, Novartis, Pfizer, Abbvie, UCB, CHUGAI, ROCHE, Sophie Georgin-Lavialle Consultant for: novartis, sobi, Speakers bureau: novartis, sobi, Pascal Pillet: None declared, michael hofer Grant/research support from: novartis, SOBI, Consultant for: Novartis, SOBI
-
Health-related quality of life in children with PFAPA Syndrome.
Orphanet Journal of Rare Diseases, 2018Co-Authors: Claire Grimwood, Isabelle Koné-paut, Maryam Piram, Linda Rossi-semerano, Véronique HentgenAbstract:Background Conventionally, PFAPA Syndrome is considered as a benign disease compared to other recurrent fevers because it completely passes before adulthood. However, in our clinical practice, fever episodes have a huge impact on daily activities.
-
health related quality of life in children with PFAPA Syndrome
Orphanet Journal of Rare Diseases, 2018Co-Authors: Claire Grimwood, Maryam Piram, Isabelle Konepaut, Linda Rossisemerano, Véronique HentgenAbstract:Conventionally, PFAPA Syndrome is considered as a benign disease compared to other recurrent fevers because it completely passes before adulthood. However, in our clinical practice, fever episodes have a huge impact on daily activities. Observational cohort study using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) Generic Core and Fatigue Scales. PedsQL™ uses a modular approach to measure the HRQOL in children with acute and chronic health conditions. We used pediatric FMF patients as the control group. We included 33 children with PFAPA and compared them to 27 FMF patients matched for age: preschool-age children (2 to 7 years) and school-age children and youths (8 to18 years). PedsQL™ self-reported scores of children with PFAPA were systematically lower than those of FMF peers for general quality of life and physical and psychosocial functioning (significant only in the preschool-age group). PedsQL™ self-reported fatigue scores of children with PFAPA were significantly lower than those of FMF peers for both preschoolers and school-age children and youths. Parent proxy-reports were not significantly different, even though scores were systematically lower for the parents of PFAPA children. Our study demonstrates, for the first time, that the wellbeing of PFAPA children is poor, with a major impact on psychosocial functioning and increased fatigue. The quality of life of PFAPA children appears to be even lower than that of FMF patients, for whom a lower than normal HRQOL has already been demonstrated.
-
Health-related quality of life in children with PFAPA Syndrome
BMC, 2018Co-Authors: Claire Grimwood, Isabelle Koné-paut, Maryam Piram, Linda Rossi-semerano, Véronique HentgenAbstract:Abstract Background Conventionally, PFAPA Syndrome is considered as a benign disease compared to other recurrent fevers because it completely passes before adulthood. However, in our clinical practice, fever episodes have a huge impact on daily activities. Methods Observational cohort study using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) Generic Core and Fatigue Scales. PedsQL™ uses a modular approach to measure the HRQOL in children with acute and chronic health conditions. We used pediatric FMF patients as the control group. Results We included 33 children with PFAPA and compared them to 27 FMF patients matched for age: preschool-age children (2 to 7 years) and school-age children and youths (8 to18 years). PedsQL™ self-reported scores of children with PFAPA were systematically lower than those of FMF peers for general quality of life and physical and psychosocial functioning (significant only in the preschool-age group). PedsQL™ self-reported fatigue scores of children with PFAPA were significantly lower than those of FMF peers for both preschoolers and school-age children and youths. Parent proxy-reports were not significantly different, even though scores were systematically lower for the parents of PFAPA children. Conclusion Our study demonstrates, for the first time, that the wellbeing of PFAPA children is poor, with a major impact on psychosocial functioning and increased fatigue. The quality of life of PFAPA children appears to be even lower than that of FMF patients, for whom a lower than normal HRQOL has already been demonstrated
Donato Rigante - One of the best experts on this subject based on the ideXlab platform.
-
children and adults with PFAPA Syndrome similarities and divergences in a real life clinical setting
Advances in Therapy, 2021Co-Authors: Ludovico Luca Sicignano, Elena Verrecchia, Isabella Patisso, Donato Rigante, Beatrice Moccaldi, Maria Grazia Massaro, Stefano Delli Noci, Giovanna Capozio, Raffaele MannaAbstract:Analogies or differences of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) Syndrome in children and adults are barely known. The aim of our study was to compare the overall characteristics of a large cohort of patients, both children and adults, diagnosed with PFAPA Syndrome. In the last decade, we identified 120 children and 63 adults with periodically recurring fevers, who fulfilled the criteria for PFAPA diagnosis. The two subcohorts were analyzed according to demographic features, clinical manifestations, laboratory data, and responses to therapies. The mean age of onset was 2.4 ± 1.5 and 19.7 ± 10.3 years, respectively, in children and adults, while attacks occurred every 3.8 ± 0.8 and every 4.3 ± 2.3 weeks, respectively, in children and adults. A higher prevalence of exudative pharyngitis was observed in children (58.8%), and the majority of children had only two cardinal signs during flares. In adults, there was a higher interpersonal variability of the intercritical periods. Inflammatory markers measured during non-febrile periods were normal in children but altered in the totality of adults during febrile periods. A strong efficacy of corticosteroids in controlling the pediatric Syndrome was observed, but response rates to steroids were less brilliant in adults. Colchicine and interleukin-1 inhibitors were used in the management of the steroid-resistant adult Syndrome. Conversely, tonsillectomy was performed in a very low number of children, but was effective in 60.7% of adults when treated after 16 years. The mean age of disappearance of PFAPA symptoms has been 6.4 ± 2.4 years in children, while only 27% of adults have shown a complete drug-free symptom regression. A linear conformity of the PFAPA Syndrome has been observed between pediatric and adult patients. PFAPA symptoms tended to disappear with no sequelae in 94.1% of children, while the disease was still active in almost 3/4 of adults at the time of our assessment.
-
Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) Syndrome in children and adults: a narrative review
Clinical Rheumatology, 2019Co-Authors: Carla Gaggiano, Donato Rigante, Jurgen Sota, Salvatore Grosso, Luca CantariniAbstract:Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) Syndrome is the most frequent non-hereditary autoinflammatory disorder in childhood: Its onset is usually observed before 5 years, though reports regarding adulthood are increasing. The pathogenesis of the Syndrome is not completely understood, but a multifactorial origin, probably based on a polygenic pattern of susceptibility, is the most probable rational pathogenetic hypothesis. Treatment of PFAPA Syndrome relies on the administration of low-dose corticosteroids, which promptly abort flares but cannot prevent subsequent disease episodes over time. Tonsillectomy with or without adenoidectomy has proved to be successful in some pediatric patients, as proven by different studies. On the other hand, colchicine, cimetidine, nonsteroidal anti-inflammatory drugs, and interleukin-1 inhibitors have shown efficacy, which require further definite confirmations. This review is aimed at summarizing all the recent evidence about treatment options available for PFAPA Syndrome both in pediatric and adult patients.
-
Challenges and new horizons in the periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) Syndrome
Expert Opinion on Orphan Drugs, 2017Co-Authors: Stefano Gentileschi, Bruno Frediani, Antonio Vitale, Mauro Galeazzi, Donato Rigante, Luca CantariniAbstract:ABSTRACTIntroduction: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) Syndrome is a multifactorial autoinflammatory disorder representing a true challenge for differential diagnosis of fevers of unknown origin among children.Areas covered: Although current diagnostic criteria confine PFAPA Syndrome into the pediatric world, recent evidences have suggested the possible onset of this disease during adulthood as well as the possible relapse over time after spontaneous or treatment-induced resolution in childhood. The number of treatment choices currently available is growing significantly. In this regard, inhibition of interleukin (IL)-1 represents an intriguing promise for PFAPA patients who do not respond to standard therapy or for whom corticosteroid administration is unsuitable.Expert opinion: The challenges associated with the discovery of pathogenetic pathways and treatment alternatives in PFAPA Syndrome are immense, reflected by the small number of studies currently in progress. ...
-
Evolving Frontiers in the Treatment of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome.
The Israel Medical Association journal : IMAJ, 2017Co-Authors: Donato Rigante, Antonio Vitale, Stefano Gentileschi, Giusyda Tarantino, Luca CantariniAbstract:BACKGROUND Fevers recurring at a nearly predictable rate every 3-8 weeks are the signature symptom of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) Syndrome, an acquired autoinflammatory disorder which recurs in association with at least one sign among aphthous stomatitis, pharyngitis, and/or cervical lymph node enlargement without clinical signs related to upper respiratory airways or other localized infections. The disease usually has a rather benign course, although it might relapse during adulthood after a spontaneous or treatment-induced resolution in childhood. The number of treatment choices currently available for PFAPA Syndrome has grown in recent years, but data from clinical trials dedicated to this disorder are limited to small cohorts of patients or single case reports. The response of PFAPA patients to a single dose of corticosteroids is usually striking, while little data exist for treatment with cimetidine and colchicine. Preliminary interesting results have been published with regard to vitamin D supplementation in PFAPA Syndrome, while inhibition of interleukin-1 might represent an intriguing treatment for PFAPA patients who have not responded to standard therapies. Tonsillectomy has been proven curative in many studies related to PFAPA Syndrome, although the evidence of its efficacy is not widely shared by different specialists, including pediatricians, rheumatologists and otorhynolaryngologists.
-
Demographic, clinical and therapeutic findings in a monocentric cohort of adult patients with suspected PFAPA Syndrome.
Clinical and Experimental Rheumatology, 2016Co-Authors: Antonio Vitale, Giacomo Emmi, Bruno Frediani, Marco Cattalini, Mauro Galeazzi, Donato Rigante, Ida Orlando, Giuseppe Lopalco, Florenzo Iannone, Luca CantariniAbstract:OBJECTIVES Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) Syndrome is a non-Mendelian autoinflammatory disorder until now considered to be specifically limited to paediatric age. Recently, an increasing number of reports seems to suggest that PFAPA Syndrome, diagnosed by the Marshall criteria revised by Thomas et al., can also affect adults. METHODS The Marshall/Thomas criteria have been applied to 989 adult patients presenting for recurrent fever episodes: all patients enrolled were reviewed for demographic, clinical, and therapeutic data. Infectious, neoplastic, autoimmune and other autoinflammatory diseases were ruled out. RESULTS We identified 30 adult patients (19 males, 11 females) with a suspected PFAPA Syndrome: their mean age at disease onset was 33.75±14.01 years, mean age at diagnosis 39.1±14.39 years, and mean body temperature peak 39.5±0.7°C. In addition, the mean frequency of febrile episodes was 11.58±8.97 per year. More precisely, patients complained of pharyngitis (77%), cervical adenitis (73%), asthenia (63%), arthralgia (67%), oral aphthosis (50%), myalgia (54%), cephalalgia (43%), abdominal pain (27%), nausea/vomiting (17%), periorbital pain (17%), and arthritis (10%). Six out of 30 (20%) patients had suffered from PFAPA Syndrome also during childhood, and the disease had reappeared in adulthood. CONCLUSIONS We provide the largest monocentric cohort of patients diagnosed with a suspected PFAPA Syndrome in adulthood confirming that this Syndrome can occur also during adulthood; moreover, due to the medical history of our patients and based on our experience, PFAPA Syndrome might relapse during adulthood after a temporary remission reached in the course of paediatric age.