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Systemic Physical Condition
Published in A. Sahib El-Radhi, Paediatric Symptom and Sign Sorter, 2019
Patients with FMF usually respond dramatically to colchicine at 0.6 mg hourly for 4 doses, which is also effective in preventing attacks of FMF and the development of amyloidosis. For those with PFAPA, steroid therapy is very effective in controlling fever and other symptoms within 2–4 hours. Immunoglobulin-D (IgD) is elevated in the majority of cases of PFAPA.
Acute tonsillitis
Published in S. Musheer Hussain, Paul White, Kim W Ah-See, Patrick Spielmann, Mary-Louise Montague, ENT Head & Neck Emergencies, 2018
In atypical presentation with sore throat, consider unusual infective agents (e.g. syphilis, HIV). Vesicular ulceration can be associated with herpes infections. Stomatitis with recurrent infection indicates possible PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis).
Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
PFAPA was first described in 1987 (as Marshall syndrome). It has an unknown aetiology, and the epidemiology is poorly described. PFAPA is the commonest periodic fever syndrome in childhood. It is unlikely to be due to a single gene. Diagnosis is clinical, in the absence of evidence of recurrent upper respiratory tract infections or cyclic neutropenia: regular recurrent fever of early onset.oral aphthous ulcers.cervical lymphadenopathy.pharyngitis.Treatment:single dose of corticosteroid (1–2 mg/kg) given at the start of an attack. tonsillectomy: approximately 50% success reported.colchicine or anakinra may be useful but have an unpredictable response.Prognosis is good; most outgrow their symptoms by adolescence.
Behcet disease: an undifferentiating and complex vasculitis
Published in Postgraduate Medicine, 2023
Other diseases to evaluate for include systemic lupus erythematosus, reactive arthritis, and spondyloarthropathy. Accompanying symptoms and axial inflammatory arthritis, serologies, and HLAB27 status can help differentiate between BD from these diseases. As mentioned above, when intestinal BD is present, endoscopic exams can help differentiate between IBD and BD based on presence of granulomas in intestinal BD. Celiac disease can also present with aphthous ulcers, abdominal bloating/cramping, and diarrhea. Although BD is highly inflammatory in nature, the lack of fevers tend to help separate this disease out from other autoinflammatory conditions like hyperimmunoglobulin D and A20 haploinsufficiency syndromes [84]. Age of onset and other clinical manifestations can help differentiate it from periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA).
Remarkable effectiveness of tocilizumab in familial Mediterranean fever exon 3 variant with severe abdominal pain and PFAPA-like symptoms: a child case report and review of the literature
Published in Modern Rheumatology Case Reports, 2019
Makiko Tajika, Yusuke Takeuchi, Mai Arai, Koichiro Fujimaki, Takashi Soga, Kazunaga Agematsu, Atsushi Kawakami, Yoh Umeda
PFAPA represents the most common autoinflammatory fever disorder occurring during childhood [6]. The clinical entity is characterised by regular episodes of high fever (>39 °C) that are associated with at least 1 of 3 cardinal clinical signs of aphthous stomatitis, pharyngitis and cervical adenitis. Additional manifestations, including headache, gastrointestinal symptoms and sore throat, may be present [4] but are not consistently noted. Disease onset is generally before the age of 5 years, with attacks lasting 2–8 days and recurring every 3–8 weeks. Patients are asymptomatic between episodes and show normal growth and development [7]. Although the genetic defects in PFAPA have not yet been identified, monogenic, oligogenic or complex inheritance of variants in multiple disease genes in combination with epigenetic and environmental factors have been suggested [8,9]. Yabuuchi et al. recently described a 54-year-old Japanese man with FMF exon 3 variants who presented with recurrent abdominal pain, fever lasting >5 d and renal failure from amyloidosis. He did not respond to infliximab, but tocilizumab therapy was successful [10].