Background Marshall's syndrome or PFAPA (periodic fever, aphtous stomatitis, pharyngitis, cervical adenitis) is a pediatric diseases characterized by recurrent febrile episodes associtaed with head and neck symptoms, improved or cured after tonsillectomy. Differential diagnosis includes infectious angina, Behcet's disease, cyclic neutropenia, TRAPS syndrome and other autoinflammatory syndromes. However, part of the patients with Behcet's disease may have PFAPA as part of their disease onset.
Objectives We aimed to investigate the reported prevalence of PFAPA symptoms in patients with Behcet's disease.
Methods The patients in the evidence of the Rheumatology Dept, a tertiary referral unit, with confirmed Behcet's syndrome (according to ISSG) presenting in the last year, were taken into the cross-sectional study, after informed consent. A questionnaire (AMAB) was developed and employed, with regard to the presence of diagnostic Marshall/ PFAPA features (Thomas 1998), familial history, tonsillectomy, fever presence and pattern and other possible features of BD appearing in childhood. Cyclic neutropenia was ruled out as part of clinical investigations, and data regarded the pathergy, eye examination and thrombotic events were obtained from the medical records.
Results We enrolled 21 patients (11 F, 12 M), average age 47.6 yrs, that agreed to answer the questionnaire. In the whole responder BD group, fever was present in 38.1%. We found that 23% of the responder BD patients reported symptoms compatible with a PFAPA diagnosis, with a medium age of onset of 8.2 years. BD was diagnosed at 40±12.8 yrs (15–56), but in the patients with PFAPA symptoms the onset was earlier (28±12.3 yrs). In the 3 patients with tonsillectomy, the symptoms improved for several years, only to reappear milder after adolescence, along with other features of BD. Most patients (76.19%) recalled ulcers since childhood, and isolated oral ulcers generally remained as such until occurrence of other diagnostic BD features. We found no differences in the severity of the disease, eye involvement or thrombosis prevalence in the patients with or without PFAPA features.
Conclusions PFAPA may co-exist as an associated disease in BD and is not necessarily an exclusion diagnosis. Although many patients with BD suffer from oral ulcers since childhood, BD symptoms appear in most after adolescence.
International Study Group for Behcet's disease. Criteria for diagnosis of Behcet's disease. Lancet 1990; 5:335(8697):1078–80.
Cantarini L, Vitale A, Bersani G, Nieves LM et al: PFAPA syndrome and Behcet's disease: a comparison of the two medical entities based on the clinical interviews performed by three different specialists. Clin Rheumatol 2015 Feb 10.
Disclosure of Interest None declared