The PFAPA syndrome is characterized by a regular appearance of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis and is associated with a distinctive poor general condition of the patients. Since its first description in 1987 the syndrome has usually been described in children. But we here report its diagnosis in three adult patients. At the Department of Otorhinolaryngology/Head and Neck Surgery of the University Medical Center Freiburg, data on 36 patients with PFAPA syndrome were collected between 2004 and 2010.  Data analysis was based on structured questionnaires, medical files of patients and a systematic assessment of the relevant international literature up to April 2011. The average age of the initial occurrence of PFAPA syndrome in the three patients was in the first few months after birth (month 2, 6 and 7). A tonsillectomy had been performed on all three patients in early childhood. As a result two patients had remission of symptoms for several years (4.5 and 12 years) with recurrence of PFAPA attacks while the third patient had no changes in symptoms. The PFAPA syndrome is an illness that first manifests itself in children. However, it can persist until adulthood or reappear after phases of remission. A knowledge of this periodic fever syndrome and extensive and close cooperation of general practitioners, paediatricians, internists and ENT specialists will be helpful in early diagnosis of this disorder.
PFAPA syndrome is characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Tonsillectomy and adenotonsillectomy are surgical treatment options for this periodic fever syndrome, the significance of which will be discussed. Between 2004 and 2010 we collected data of 36 patients with the diagnosis of PFAPA syndrome. Data analysis was carried out on the basis of structured questionnairs, patients' files as well as a systematic evaluation of international literature up to April 2011. The average age for the appearance of PFAPA episodes was 22 months and they recurred for an average duration of 3-5 days every 14-33 days. During a PFAPA attack, aphthous stomatitis was present in 70% of the patients, pharyngitis was present in 93% and cervical adenitis in 96%. The family history for recurrent fever was positive in 4 of the patients. In 85% cortikosteroids were the only effective medicative treatment with no further symptoms until the next attack. Surgery (tonsillectomy±adenoidectomy) aborted the PFAPA episodes in 10 of 16 patients, in 2 patients the frequency of episodes decreased, 3 patients had no noticeable change and 1 patient died as a result of postsurgical bleeding at another institution. After an average duration of illness of 4 years the PFAPA syndrome was in spontaneous remission in 8 patients. Tonsillectomy is an effective treatment option for the PFAPA syndrome. Contrary to a general indication the decision should be personalized considering the benefit vs. the risk of operation with the advice of an ENT specialist.
The symptoms fever, aphthous stomatitis, pharyngitis and cervical lymph node enlargement are among the most frequent complaints that particularly make children and adolescents consult an ENT specialist. In cases where these symptoms occur periodically, a PFAPA syndrome may be present. We report on an atypical process in a 22 year old woman in whom the PFAPA syndrome first occurred during early infancy with recurrences since adolescence. Since the age of eight months the patient suffered from periodically occurring fever and pharyngitis with cervical lymph node enlargement. Therefore, by age four a tonsillectomy was performed and the symptoms disappeared. At age 15 similar symptoms occurred again with fever thrusts over approximately four to five days with temperatures up to 39.8 degrees C associated with pharyngitis, weakness and cervical lymphadenitis. Those symptoms relapsed periodically every four weeks. Treatment regimens with different antibiotics, Dimepranol and Inosin did not show any effect. Hyper-IgD syndrome and cyclic neutropenia were excluded. There were no signs for a humoral or cellular immune defect or a juvenile idiopathic arthritis. It is often very difficult to make the right diagnosis in a child or a young adolescent presenting with periodically occurring fever. So far the PFAPA syndrome is relatively unknown. Nevertheless, we think that it should be considered in the differential diagnosis by the ENT specialist patients with periodic fever, aphthous stomatitis, pharyngitis and cervical lymphadenopathy.
