Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome
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. We performed a case-control study to compare the family histories of patients with PFAPA recruited from Vanderbilt Uni...
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| Veröffentlicht in: | Pediatrics (Evanston) Jg. 138; H. 3 |
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01.09.2016
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| Abstract | 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.
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.
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.
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. |
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| AbstractList | OBJECTIVEThe goal of this study was to describe family history and inheritance patterns in patients with periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome.METHODSWe 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.RESULTSEighty 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.CONCLUSIONSA 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. 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. 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. 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. 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. |
| Author | Nesbitt, Emily Manthiram, Kalpana Morgan, Thomas Edwards, Kathryn M |
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| References_xml | – reference: 10393598 - J Pediatr. 1999 Jul;135(1):15-21 – reference: 2797967 - Pediatr Infect Dis J. 1989 Sep;8(9):658-9 – reference: 23106338 - Acta Paediatr. 2013 Feb;102(2):187-92 – reference: 10393612 - J Pediatr. 1999 Jul;135(1):98-101 – reference: 19593600 - Clin Rheumatol. 2009 Oct;28(10):1235-7 – reference: 20601652 - Rheumatology (Oxford). 2010 Oct;49(10):1984-7 – reference: 23069819 - Arch Otolaryngol Head Neck Surg. 2012 Oct;138(10):902-6 – reference: 19786432 - Pediatrics. 2009 Oct;124(4):e721-8 – reference: 21798555 - J Pediatr. 2011 Dec;159(6):958-64 – reference: 25988833 - Sci Rep. 2015 May 19;5:10200 – reference: 21074183 - J Pediatr. 2011 Jan;158(1):155-9 – reference: 21300374 - J Pediatr. 2011 Jul;159(1):138-42 – reference: 19209090 - Pediatr Infect Dis J. 2009 Mar;28(3):254-5 – reference: 18929686 - J Biomed Inform. 2009 Apr;42(2):377-81 – reference: 24505122 - Rheumatology (Oxford). 2014 Jun;53(6):1125-9 – reference: 21537926 - Eur J Pediatr. 2011 Dec;170(12):1563-8 – reference: 24237762 - Clin Exp Rheumatol. 2013 Nov-Dec;31(6):980-7 – reference: 21478439 - Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7148-53 – reference: 25656804 - Mol Immunol. 2015 May;65(1):139-47 – reference: 3794885 - J Pediatr. 1987 Jan;110(1):43-6 – reference: 5952294 - JAMA. 1966 May 16;196(7):637-44 |
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| Title | Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome |
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