PFAPA

Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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DiseasesDB	33682

同: periodic fever, aphthous stomatitis, pharyngitis, and adenitis

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/06/12 19:02:04」(JST)

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Periodic fever, aphthous stomatitis, pharyngitis and adenitis or periodic fever aphthous pharyngitis and cervical adenopathy (PFAPA) syndrome is a medical condition, typically starting in young children, in which high fever occurs periodically at intervals of about 3–5 weeks, frequently accompanied by aphthous ulcers, pharyngitis and/or cervical adenitis. The syndrome was described in 1987 and named two years later.^[1]^[2]^[3]

Signs and symptoms[edit]

The key symptoms of PFAPA are those in its name: periodic high fever at intervals of about 3–5 weeks, as well as aphthous ulcers, pharyngitis and/or adenitis. In between episodes, and even during the episodes, the children appear healthy. At least 6 months of episodes. Diagnosis requires recurrent negative throat cultures and that other causes (such as EBV, CMV, FMF) be excluded.^[3]

Cause[edit]

PFAPA is frequently discussed together with other periodic fever syndromes, but it is unknown whether the cause is primarily genetic or due to an initial infection.^[3]

According to recent information that has been gathered, there has been some genetic links that are possible.

The condition appears to be the result of a disturbance of innate immunity.^[4] The changes in the immune system are complex and include increased expression of complement related genes (C1QB, C2, SERPING1), interleulkin-1-related genes (interleukin-1B, interleukin 1 RN, CASP1, interleukin 18 RAP) and interferon induced (AIM2, IP-10/CXCL10) genes. T cell associated genes (CD3, CD8B) are down regulated. Flares are accompanied by increased serum levels of activated T lymphocyte chemokines (IP-10/CXCL10, MIG/CXCL9), G-CSF and proinflammatory cytokines (interleukin 6, interleukin 18). Flares also manifest with a relative lymphopenia. Activated CD4(+)/CD25(+) T-lymphocyte counts correlated negatively with serum concentrations of IP-10/CXCL10, whereas CD4(+)/HLA-DR(+) T lymphocyte counts correlated positively with serum concentrations of the counterregulatory IL-1 receptor antagonist.

Treatment[edit]

A possible treatment for PFAPA is a single dose of prednisone (1–2 mg per kg body mass) at the beginning of each fever episode. A single dose usually terminates the fever within several hours. However, in some children, prednisone causes the fever episodes to occur more frequently (and more regularly). Parents might then want to consider colchicine, which is used in the treatment of FMF. In several studies, adenotonsillectomy was found to completely resolve symptoms.^[5]^[6] Yet other studies had differing results, most being positive. Parents of children with PFAPA regularly report improvements after the children have had surgical treatment. Some children stop having episodes, others have a break in the cycle for a few months and then it comes back but the episodes are less intense.

Interleukin-1 inhibition appears to be effective in treating this condition.^[4]

Prognosis[edit]

According to present research, PFAPA does not lead to other diseases and spontaneously resolves as the child gets older, with no long term physical effects.^[2] ^[7] ^[8]

External links[edit]

http://exchanges.webmd.com/pfapa

References[edit]

^ Thomas, Kenneth Tyson; Feder, Lawton, Edwards (1999). "Periodic fever syndrome in children". Journal of Pediatrics (Mosby, Inc.) 135: 1–5. doi:10.1016/S0022-3476(99)70316-1. Retrieved 2008-03-07.
^ ^a ^b Padeh, Shai; (eight others) (1999). "Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome". Journal of Pediatrics (Mosby, Inc.) 135 (1): 98–101. doi:10.1016/S0022-3476(99)70335-5. PMID 10393612. Retrieved 2008-03-07.
^ ^a ^b ^c Long, Sarah S. (1999). "Syndrome of Periodic Fever, Aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA) - What it isn't. What is it?". Journal of Pediatrics (Mosby, Inc.) 135: 1–5. doi:10.1016/S0022-3476(99)70316-1. Retrieved 2008-03-07.
^ ^a ^b Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, Brown MR, Edwards KM, Ward MM, Colbert RA, Sun HW, Wood GM, Barham BK, Jones A, Aksentijevich I, Goldbach-Mansky R, Athreya B, Barron KS, Kastner DL (2011) Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A
^ Licameli, Greg, MD, MHCM; Jeffrey, Jessica, MA; Luz, Jennifer, BS; Jones, Dwight, MD; Kenna, Margaret, MD, MPH, Archives of Otolaryngology - Head and Neck Surgery, 2008;134(2):136-140.
^ Greg Licameli, MD, MHCM; Maranda Lawton, MS, PA-C; Margaret Kenna, MD, MPH; Fatma Dedeoglu, MD:Long-term Surgical Outcomes of Adenotonsillectomy for PFAPA Syndrome. In: Arch Otolaryngol Head Neck Surg. 2012;138(10):902-906
^ http://www.merck.com/mmpe/sec19/ch297/ch297g.html
^ http://my.clevelandclinic.org/disorders/periodic_fever_syndrome/rheumatology_overview.aspx

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1. アフタ性口内炎、咽頭炎およびリンパ節炎（PFAPA症候群）を伴う周期熱 periodic fever with aphthous stomatitis pharyngitis and adenitis pfapa syndrome
2. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
3. 小児における頸部リンパ節炎：病因および臨床症状 cervical lymphadenitis in children etiology and clinical manifestations
4. 高IgD症候群：臨床症状および診断 hyperimmunoglobulin d syndrome clinical manifestations and diagnosis
5. 腫瘍壊死因子受容体-1関連周期性発熱症候群（TRAPS） tumor necrosis factor receptor 1 associated periodic syndrome traps

English Journal

Tonsillectomy efficacy in children with PFAPA syndrome is comparable to the standard medical treatment: a long-term observational study.

Vigo G, Martini G, Zoppi S, Vittadello F, Zulian F.Author information Department of Paediatrics, University of Padua, Italy. giulia.gmv@libero.it.AbstractOBJECTIVES: 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.
Clinical and experimental rheumatology.Clin Exp Rheumatol.2014 Jan 3. [Epub ahead of print]
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 standa
PMID 24387830

Prolonged and recurrent fevers in children.

Marshall GS.Author information University of Louisville School of Medicine, 571 S. Floyd St., Suite 321, Louisville, KY 40202, USA. Electronic address: gary.marshall@louisville.edu.AbstractSome children referred for prolonged fever are actually not having elevated temperatures; the approach here requires dissection of the history and correction of health misperceptions. Others have well-documented fevers associated with clinical, laboratory, or epidemiologic findings that should point to a specific diagnosis. "Fever-of-Unknown-Origin" (FUO) is the clinical scenario of daily fever for ≥14 days that defies explanation after a careful history, physical examination, and basic laboratory tests. The diagnostic approach requires a meticulous fever diary, serial clinical and laboratory evaluations, vigilance for the appearance of new signs and symptoms, and targeted investigations; the pace of the work-up is determined by the severity of the illness. Approximately half of children with FUO will have a self-limited illness and will never have a specific diagnosis made; the other half will ultimately be found to have, in order, infectious, inflammatory, or neoplastic conditions. Irregular, intermittent, recurrent fevers in the well-appearing child are likely to be sequential viral illnesses. Monogenic autoinflammatory diseases should be considered in those who do not fit the picture of recurrent infections and who do not have hallmarks of immune deficiency. Stereotypical febrile illnesses that recur with clockwork periodicity should raise the possibilities of cyclic neutropenia, if the cycle is approximately 21 days, or periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, the most common periodic fever in childhood.
The Journal of infection.J Infect.2014 Jan;68 Suppl 1:S83-93. doi: 10.1016/j.jinf.2013.09.017. Epub 2013 Oct 10.
Some children referred for prolonged fever are actually not having elevated temperatures; the approach here requires dissection of the history and correction of health misperceptions. Others have well-documented fevers associated with clinical, laboratory, or epidemiologic findings that should point
PMID 24120354

The first case of adult-onset PFAPA syndrome in Japan.

Kutsuna S, Ohmagari N, Tanizaki R, Hagino N, Nishikomori R, Ujiie M, Takeshita N, Hayakawa K, Kato Y, Kanagawa S.Author information National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.AbstractA 26-year-old woman presented with fever and pharyngitis. She previously experienced four periodic febrile episodes at 30- to 40-day intervals. We suspected periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, and prescribed predisolone, thereby her fever rapidly subsided. Her febrile episodes improved after daily cimetidine treatment. Genetic testing results of genomic DNA for periodic fever syndromes were negative, although she was heterozygous for p.Glu148Gln variation in MEFV, supporting the diagnosis of PFAPA syndrome.
Modern rheumatology / the Japan Rheumatism Association.Mod Rheumatol.2013 Dec 2. [Epub ahead of print]
A 26-year-old woman presented with fever and pharyngitis. She previously experienced four periodic febrile episodes at 30- to 40-day intervals. We suspected periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, and prescribed predisolone, thereby her fever rapidly subsided
PMID 24289199

Japanese Journal

臨床研究・症例報告 Periodic Fever with Aphthous Pharyngitis and Adenitis症候群の7歳男児例

渡部達,松田智香,北形綾一 [他]
小児科臨床 67(3), 427-432, 2014-03
NAID 40019984117

臨床研究・症例報告シメチジンの効果が見られたPFAPA症候群の2例

清益功浩,児玉暖,北村律子 [他]
小児科臨床 66(2), 291-296, 2013-02
NAID 40019547143

PFAPAを背景にもつ重症溶連菌感染後急性糸球体腎炎の1例

渡邊祥二郎,千葉奈歩,相澤知美,敦賀和志,伊藤悦朗,城謙輔,尾田高志,田中完
Nihon Shoni Jinzobyo Gakkai Zasshi 26(1), 110-115, 2013
… 　Periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis(PFAPA)は，周期性発熱，アフタ性口内炎，頸部リンパ節炎，咽頭炎を主症状とし乳幼児期に発症する非遺伝性自己炎症性疾患である。 … 本症例の PSAGN重症化の背景にあるPFAPAの何らかの免疫調整異常が関与した可能性も否定できない。 …
NAID 130003384547

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