The first case of adult-onset PFAPA syndrome in Japan

Mod Rheumatol. 2016;26(2):286-7. doi: 10.3109/14397595.2013.857801. Epub 2013 Dec 2.

Abstract

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. 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.

Keywords: Autoinflammatory syndromes; MEFV gene; PFAPA syndrome; Periodic fever syndromes; p.Glu148Gln variation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cimetidine / therapeutic use
  • Cytoskeletal Proteins / genetics
  • Female
  • Fever / diagnosis*
  • Fever / drug therapy
  • Fever / genetics
  • Glucocorticoids / therapeutic use
  • Heterozygote
  • Humans
  • Japan
  • Lymphadenitis / diagnosis*
  • Lymphadenitis / drug therapy
  • Lymphadenitis / genetics
  • Pharyngitis / diagnosis*
  • Pharyngitis / drug therapy
  • Pharyngitis / genetics
  • Prednisolone / therapeutic use
  • Pyrin
  • Stomatitis, Aphthous / diagnosis*
  • Stomatitis, Aphthous / drug therapy
  • Stomatitis, Aphthous / genetics
  • Syndrome
  • Treatment Outcome

Substances

  • Cytoskeletal Proteins
  • Glucocorticoids
  • MEFV protein, human
  • Pyrin
  • Cimetidine
  • Prednisolone