Di Wu1, Min Shen2, Xiaofeng Zeng1. 1. Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. 2. Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. shenmpumch@163.com.
Abstract
OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a multifactorial autoinflammatory disease (AID), which mainly affects children. There have been hardly any cases reported concerning the Chinese population. We aimed to describe the first cohort of adult PFAPA patients in China. METHODS: We evaluated all the adult patients suffering from PFAPA syndrome diagnosed in our centre from April 2015 through March 2018. The patients were diagnosed clinically, and whole exome sequencing was performed in each patient to rule out mono-genic AIDs. RESULTS: During the study period, a total of 9 adult patients (8 men, 1 woman) with PFAPA syndrome were diagnosed. They all had disease onset in adulthood, and the mean age at onset was 25.2±9.5 years. The mean duration of attacks was 4.1±1.0 days, and the mean interval between attacks was 6.2±2.7 weeks. Apart from periodic fever, which was present in all patients, pharyngitis, cervical adenitis and aphthous stomatitis were present in 89%, 67% and 44% patients, respectively. Other common symptoms included fatigue (100%), headache (56%), and myalgia (55%). Inflammatory markers, except ferritin, increased during attacks and returned to normal afterwards. Glucocorticoids given at onset of attacks were effective, while colchicine and tonsillectomy were of no effect. CONCLUSIONS: Our study is the first to suggest the presence of PFAPA syndrome in the Chinese adult population. Clinicians should take into account PFAPA syndrome when diagnosing patients suffering from recurrent fevers of unknown origin, especially those with pharyngitis, cervical adenopathy and aphthous stomatitis.
OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a multifactorial autoinflammatory disease (AID), which mainly affects children. There have been hardly any cases reported concerning the Chinese population. We aimed to describe the first cohort of adult PFAPA patients in China. METHODS: We evaluated all the adult patients suffering from PFAPA syndrome diagnosed in our centre from April 2015 through March 2018. The patients were diagnosed clinically, and whole exome sequencing was performed in each patient to rule out mono-genic AIDs. RESULTS: During the study period, a total of 9 adult patients (8 men, 1 woman) with PFAPA syndrome were diagnosed. They all had disease onset in adulthood, and the mean age at onset was 25.2±9.5 years. The mean duration of attacks was 4.1±1.0 days, and the mean interval between attacks was 6.2±2.7 weeks. Apart from periodic fever, which was present in all patients, pharyngitis, cervical adenitis and aphthous stomatitis were present in 89%, 67% and 44% patients, respectively. Other common symptoms included fatigue (100%), headache (56%), and myalgia (55%). Inflammatory markers, except ferritin, increased during attacks and returned to normal afterwards. Glucocorticoids given at onset of attacks were effective, while colchicine and tonsillectomy were of no effect. CONCLUSIONS: Our study is the first to suggest the presence of PFAPA syndrome in the Chinese adult population. Clinicians should take into account PFAPA syndrome when diagnosing patients suffering from recurrent fevers of unknown origin, especially those with pharyngitis, cervical adenopathy and aphthous stomatitis.
Authors: Karin Rydenman; Hanna Fjeld; Josefine Hätting; Stefan Berg; Anders Fasth; Per Wekell Journal: Pediatr Rheumatol Online J Date: 2022-09-15 Impact factor: 3.413