The first case of adult-onset PFAPA syndrome in Japan

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.

A case of adult‐onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome in Japan

“…In terms of therapy, patients with adult‐onset PFAPA syndrome showed good response to a single dose of glucocorticoid in Europe . In addition, as for our case, therapy with daily oral cimetidine resulted in successful control of disease activity in a former case of a Japanese patient with adult‐onset PFAPA syndrome . Therefore, the diagnostic and therapeutic strategies for PFAPA syndrome in pediatric patients could be adopted in adult patients.…”

“…However, as almost all adult patients with PFAPA syndrome present with high fever and at least two symbolic symptoms of this syndrome such as aphthous stomatitis, tonsillitis with white exudate, and/or cervical lymphadenopathy at a similar frequency as that seen in pediatric cases, symptoms of PFAPA syndrome may not be different between adult and pediatric cases . Regarding Japanese adult cases of PFAPA syndrome, including our case, the patients also presented with high fever and all symbolic symptoms . In terms of therapy, patients with adult‐onset PFAPA syndrome showed good response to a single dose of glucocorticoid in Europe .…”

“…7 Regarding the prevalence of this syndrome in Japan, a case of adult-onset PFAPA syndrome diagnosed via genetic testing has been reported recently. 3 Following this case, to the best of our knowledge, we report the second Japanese adult patient with PFAPA syndrome. Although large observational studies are needed for confirmation, several reports including ours suggest that adult-onset PFAPA syndrome will be diagnosed more frequently in future, particularly in Japan.…”

“…A similar prevalence of PFAPA syndrome has been observed in another study on adult patients with unexplained recurrent fever . Regarding the prevalence of this syndrome in Japan, a case of adult‐onset PFAPA syndrome diagnosed via genetic testing has been reported recently . Following this case, to the best of our knowledge, we report the second Japanese adult patient with PFAPA syndrome.…”

“…For a long time, this syndrome was recognized as a disease that is unique to the pediatric population; however, dozens of cases of adult‐onset PFAPA syndrome have been observed in Europe since the first adult case of this disease was reported in 2008 . Although the first case of adult‐onset PFAPA syndrome was also already reported, there remains a paucity of data on this syndrome in Japanese adult patients. Here we report a case of adult‐onset PFAPA syndrome that showed a good response to cimetidine therapy in Japan.…”