scholarly journals РFАРА–syndrome: a literature review and own clinical observation

2020 ◽  
pp. 57-61
Author(s):  
D.S. Khapchenkova ◽  
◽  
S.О. Dubyna ◽  
Keyword(s):  
Clinical Case ◽  
Clinical Symptoms ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Clinical Manifestations ◽  
Well Being ◽  
Aphthous Stomatitis ◽  
Unknown Etiology ◽  
Pfapa Syndrome ◽  
Laboratory Changes

Аutoinflammatory diseases or syndromes (HAIDS) have attracted practical and scientific interest. This group of pathologies is united by similar clinical symptoms in the form of periodic fever, systemic inflammation and other clinical syndromes. PFAPA — syndrome or Marshall's syndrome is one of the most common representatives of this group of diseases. РFАРА syndrome (Marshall's syndrome) is considered an autoinflammatory disease of unknown etiology and not fully studied pathogenesis. Gene mutations, family inheritance and the modifying role of persistent intracellular infections are considered as the causes of development. Genetically determined immune responses and neutrophilic inflammation, the presence of immune dysregulation play a role in the pathogenesis of Marshall's syndrome. The incidence and prevalence of this condition in the pediatric population are unknown. The pathology is characteristic of early childhood, the syndrome is characterized periodic fever, aphthous stomatitis, pharyngitis or tonsillitis and cervical adenitis. Patients do not have disturbances in well-being between episodes, pathognomonic laboratory changes, have normal growth and development indicators. The syndrome occurs in children under 5 years, disappears in adolescence, has good+quality current, the treatment of which is the administration of corticosteroids. The pathology has no specific biological markers, so the diagnosis is made on the basis of clinical manifestations, a thorough analysis of the history and the exclusion of other possible causes of recurrence fever. Purpose: to highlight the complexity of the diagnosis of PFAPA–syndrome. Clinical case. The article describes own clinical case of a child with Marshall's syndrome. Recurrent attacks of fever with a specific frequency in combination with aphthous stomatitis, pharyngitis and cervical lymphadenitis, the absence of specific laboratory changes and the positive effect of the corticosteroids treatment it possible to diagnose the above diagnosis. Conclusion. Literature data and the above clinical case indicate the difficulty of diagnosing this syndrome, long-term irrational drug treatment without clinical effect. So physicians in many specialties need to remember the need for a detailed survey of patients and parents, pay attention to the time and frequency of symptoms described above, and their combinations, if Marshall's syndrome is suspected do not be afraid to prescribe glucocorticosteroids for therapeutic and prophylactic purposes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Keywords: Marshall's syndrome, children, periodic fever, corticosteroids.

scholarly journals POS1326 FAMILIAL PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA)SYNDROME; IS IT A SEPARATE DISEASE?

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 945.2-945
Author(s):  
Y. Butbul
Keyword(s):  
Family History ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Positive Family History ◽  
Aphthous Stomatitis ◽  
M694v Mutation ◽  
Fever Syndromes ◽  
History Of ◽  
Pfapa Syndrome ◽  
Sporadic Disease

Background:Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) is the most common periodic fever syndrome in the pediatric population. Unlike other periodic fever syndromes, the pathogenesis and genetics of PFAPA is unknown. Until recently, PFAPA was believed to be a sporadic disease, yet family clustering has been widely observed and current research indicates that heredity is likely.Objectives:To identify demographic and clinical differences between patients with PFAPA who have a positive family history (FH+) compared to those with PFAPA with no family history (FH-) that can reveal if heritable and sporadic subtypes of this disorder exist.Methods:In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31(14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details.Results:FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003).Conclusion:Our findings suggest that FH+ had probably different subset of disease with higher frequency of family history of FMF arthralgia, myalgia and better response to colchicine. Colchicine prophylaxis for PFAPA should be considered in FH+.Disclosure of Interests:None declared

Una PFAPA che diventa un Behçet

2021 ◽  
Vol 40 (4) ◽  
pp. 226-229
Author(s):  
CLAUDIA CAFOLLA ◽  
ALESSANDRA IACONO ◽  
Claudia Guiducci ◽  
Lorenzo Mambelli ◽  
Federico marchetti
Keyword(s):  
Clinical Case ◽  
Periodic Fever ◽  
Aphthous Stomatitis ◽  
Periodic Fever Syndrome ◽  
Cervical Adenitis ◽  
Pfapa Syndrome ◽  
Genital Ulcers ◽  
Spectrum Disorders

PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. The paper reports the description of a clinical case of a 12-year-old girl diagnosed with PFAPA syndrome from the age of one and half years. The exacerbations did not decrease with growth as it usually happens, but genital ulcers appeared associated with HLA-B51 positivity, orienting the diagnosis towards Behçet’s spectrum disorders.

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

Challenges and new horizons in the periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

2017 ◽  
Vol 5 (2) ◽  
pp. 165-171 ◽  
Author(s):  
Stefano Gentileschi ◽  
Antonio Vitale ◽  
Bruno Frediani ◽  
Mauro Galeazzi ◽  
Donato Rigante ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Aphthous Stomatitis ◽  
New Horizons ◽  
Pfapa Syndrome

scholarly journals Correlation between Clinical Symptoms of Coeliac Disease, Serum IgA Anti TTG and Biopsy in Pediatric Population of Northern India

2020 ◽  
Vol 8 (1) ◽  
pp. 65-68
Author(s):  
Sumit Jeena ◽  
Jaswinder Kaur ◽  
Nishant Wadhwa
Keyword(s):  
Coeliac Disease ◽  
Clinical Symptoms ◽  
Tissue Transglutaminase ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
North India ◽  
P Value ◽  
Serum Iga ◽  
Significant Difference ◽  
The Mean

Background: Celiac disease is basically an immune-mediated enteropathic condition produced by permanent sensitivity to gluten in genetically susceptible subjects. There is paucity of data in north India regarding clinical symptoms of coeliac disease, Serum IgA Anti TTG and Biopsy in pediatric population. The present study was conducted with the aim to determine the correlation between clinical symptoms of coeliac disease, Serum IgA Anti TTG and Biopsy in pediatric population of northern India.Materials and Methods: The present study was conducted in prospective including 73 pediatric patients at Department of Pediatric Gastroenterology, Institute of Child Health, Sir Gangaram Hospital, New Delhi, India. Esophagogastroduodenoendoscopy and serum anti Ig A tissue transglutaminase were performed. The characteristic scalloping of the folds were looked for in endoscopy followed by four duodenal biopsies performed from second part of duodenum and histological grading was performed as per modified marsh system. Patients with Serum IgA anti tTG>20 U/ml were confirmed to be at risk. Complete histological work up was done including hemoglobin, RBC indices and peripheral blood smear examination. The association of clinical manifestations with disease grade was also established with correlation coefficient. All the data thus obtained was arranged in a tabulated form and analyzed using SPSS software. Probability value of less than 0.05 was regarded as significant.Results: There were 4 males and 16 females with marsh grade 1 and 2 and mean age of 7.3±1.9 years. There were 5 males and 8 females with marsh grade 3a and mean age of 6.8±2.3 years. The mean weight of 18.11±3.89, height of 103.17±8.73 and BMI of 16.26±3.78 was observed amongst subjects with Marsh grade 1 and 2. The mean weight of 15.12±3.17, height of 99.28±9.19 and BMI of 15.02±3.20was observed amongst subjects with Marsh grade 3a. Diarrhoea was maximum amongst subjects with grade 3c and 4(70%) and minimum amongst Grade 1 and 2 (40%). There was a significant difference between the frequency of anemia amongst different grades as the p value was less than 0.05.Conclusion: The most common presenting signs and symptoms were diarrhea and abdominal pain. The study also concluded that the incidence of anemia increases with higher marsh grades.

scholarly journals Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome, Hodgkin's lymphoma,and the familial Mediterranean fever gene

2014 ◽  
Vol 1 (1) ◽  
pp. 37
Author(s):  
Ala Atamna ◽  
Corina Hershkovici ◽  
Avishay Elis
Keyword(s):  
Familial Mediterranean Fever ◽  
Hodgkin’S Lymphoma ◽  
Periodic Fever ◽  
Gene Mutations ◽  
Aphthous Stomatitis ◽  
High Rate ◽  
Hodgkin's Lymphoma ◽  
Inflammatory Disorder ◽  
Mediterranean Fever ◽  
Pfapa Syndrome

The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) is a benign, self-limited, auto-inflammatory disorder. The attacks usually start at age 2 to 5 years and cease before the age of 10 years. Affected children grow and develop normally and experience no long-term sequelae. The course of PFAPA syndrome is attenuated by the carrier state of the familial Mediterranean fever (FMF) gene, MEFV. A high rate of MEFV mutations has also been reported in various hemato-lymphoid neoplasms. We describe a 19-year-old woman with PFAPA syndrome in remission who was diagnosed with Hodgkin's lymphoma. Although mutations in the FMF gene were not found in this case, the association of PFAPA syndrome with FMF gene mutations and hematological malignancies is discussed.

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