Kalpana Manthiram1, Emily Nesbitt1, Thomas Morgan2, Kathryn M Edwards3. 1. Division of Pediatric Infectious Diseases, Department of Pediatrics, and. 2. Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee. 3. Division of Pediatric Infectious Diseases, Department of Pediatrics, and kathryn.edwards@vanderbilt.edu.
Abstract
OBJECTIVE: The goal of this study was to describe family history and inheritance patterns in patients with periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. METHODS: We performed a case-control study to compare the family histories of patients with PFAPA recruited from Vanderbilt University Medical Center and matched healthy control subjects from a pediatric primary care practice in Nashville, Tennessee, by using a structured questionnaire. Characteristics of paired case subjects, control subjects, and their family members were compared by using McNemar's test and Wilcoxon signed-rank tests. RESULTS: Eighty PFAPA index case subjects and 80 control subjects were recruited. Eighteen PFAPA case subjects (23%) had ≥1 family member with PFAPA. Parents of PFAPA index case subjects were more likely to have recurrent pharyngitis (36% vs 16%; P < .001) and recurrent aphthous stomatitis (46% vs 28%; P = .002) compared with parents of control subjects. Siblings of case subjects had a higher prevalence of PFAPA (10% vs 2%; P = .04), recurrent pharyngitis (24% vs 10%; P = .03), and recurrent aphthous stomatitis (27% vs 7%; P = .003) compared with siblings of control subjects. CONCLUSIONS: A portion of PFAPA case subjects seems to be familial, implying an inherited genetic predisposition to the disorder and/or shared environmental exposures. First-degree relatives (parents and siblings) of patients with PFAPA have a higher prevalence of recurrent pharyngitis and aphthous stomatitis than relatives of control subjects, which suggests that these disorders represent reduced penetrance phenotypes of PFAPA. Further characterization of the genetics and inflammatory profiles of these patients and their relatives is warranted.
OBJECTIVE: The goal of this study was to describe family history and inheritance patterns in patients with periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. METHODS: We performed a case-control study to compare the family histories of patients with PFAPA recruited from Vanderbilt University Medical Center and matched healthy control subjects from a pediatric primary care practice in Nashville, Tennessee, by using a structured questionnaire. Characteristics of paired case subjects, control subjects, and their family members were compared by using McNemar's test and Wilcoxon signed-rank tests. RESULTS: Eighty PFAPA index case subjects and 80 control subjects were recruited. Eighteen PFAPA case subjects (23%) had ≥1 family member with PFAPA. Parents of PFAPA index case subjects were more likely to have recurrent pharyngitis (36% vs 16%; P < .001) and recurrent aphthous stomatitis (46% vs 28%; P = .002) compared with parents of control subjects. Siblings of case subjects had a higher prevalence of PFAPA (10% vs 2%; P = .04), recurrent pharyngitis (24% vs 10%; P = .03), and recurrent aphthous stomatitis (27% vs 7%; P = .003) compared with siblings of control subjects. CONCLUSIONS: A portion of PFAPA case subjects seems to be familial, implying an inherited genetic predisposition to the disorder and/or shared environmental exposures. First-degree relatives (parents and siblings) of patients with PFAPA have a higher prevalence of recurrent pharyngitis and aphthous stomatitis than relatives of control subjects, which suggests that these disorders represent reduced penetrance phenotypes of PFAPA. Further characterization of the genetics and inflammatory profiles of these patients and their relatives is warranted.
Authors: Paul A Harris; Robert Taylor; Robert Thielke; Jonathon Payne; Nathaniel Gonzalez; Jose G Conde Journal: J Biomed Inform Date: 2008-09-30 Impact factor: 6.317
Authors: Silvia Stojanov; Sivia Lapidus; Puja Chitkara; Henry Feder; Juan C Salazar; Thomas A Fleisher; Margaret R Brown; Kathryn M Edwards; Michael M Ward; Robert A Colbert; Hong-Wei Sun; Geryl M Wood; Beverly K Barham; Anne Jones; Ivona Aksentijevich; Raphaela Goldbach-Mansky; Balu Athreya; Karyl S Barron; Daniel L Kastner Journal: Proc Natl Acad Sci U S A Date: 2011-04-08 Impact factor: 11.205
Authors: Marco Gattorno; Roberta Caorsi; Antonella Meini; Marco Cattalini; Silvia Federici; Francesco Zulian; Elisabetta Cortis; Giuseppina Calcagno; Alberto Tommasini; Rita Consolini; Gabriele Simonini; Maria Antonietta Pelagatti; Maurizia Baldi; Isabella Ceccherini; Alessandro Plebani; Joost Frenkel; Maria Pia Sormani; Alberto Martini Journal: Pediatrics Date: 2009-09-28 Impact factor: 7.124
Authors: Cristian Quintana-Ortega; Elena Seoane-Reula; Laura Fernández; Marisol Camacho; Peter Olbrich; Olaf Neth; Sara Murias; Clara Udaondo; Agustín Remesal; Cristina Calvo; Rosa Alcobendas Journal: Eur J Rheumatol Date: 2020-09-18
Authors: Silvia De Pauli; Sara Lega; Serena Pastore; Domenico Leonardo Grasso; Anna Monica Rosaria Bianco; Giovanni Maria Severini; Alberto Tommasini; Andrea Taddio Journal: World J Clin Pediatr Date: 2018-02-08
Authors: Kalpana Manthiram; Silvia Preite; Fatma Dedeoglu; Selcan Demir; Seza Ozen; Kathryn M Edwards; Sivia Lapidus; Alexander E Katz; Henry M Feder; Maranda Lawton; Greg R Licameli; Peter F Wright; Julie Le; Karyl S Barron; Amanda K Ombrello; Beverly Barham; Tina Romeo; Anne Jones; Hemalatha Srinivasalu; Pamela A Mudd; Roberta L DeBiasi; Ahmet Gül; Gary S Marshall; Olcay Y Jones; Settara C Chandrasekharappa; Yuriy Stepanovskiy; Polly J Ferguson; Pamela L Schwartzberg; Elaine F Remmers; Daniel L Kastner Journal: Proc Natl Acad Sci U S A Date: 2020-06-09 Impact factor: 11.205