Case Presentation: A 19 year-old woman with anxiety and recurrent fevers of unclear etiology presents with fever, sore throat, and body aches. Three days prior to presentation, the patient developed sore throat, dysphagia, and dysphonia. She presented to urgent care, started amoxicillin without improvement. She developed fevers (Tmax 104F) two days later, prompting an Emergency Department visit for further evaluation.The patient was admitted the previous year with a similar presentation, at which time she underwent infectious and rheumatologic evaluations without diagnosis. EGD with esophageal biopsies were unremarkable. Her symptoms improved with a 5-day course of IV steroids and prednisone taper. Intermittent symptoms returned after prednisone was decreased to 20mg daily. On presentation, the patient was febrile (T 102.7F), tachycardic (HR 140s), and hypertensive (BP 140s/70s). She was toxic-appearing with pharyngeal erythema, tonsillar swelling, and bilateral (R>L) cervical adenopathy. Labs demonstrated WBC 17.53, ESR 3mm/hr, CRP 14.4 mg/dL. She had unrevealing blood/urine cultures, rapid strep test, respiratory viral panel, ASO titer, Toxoplasma Ab, mononucleosis Ab, EBV VL, CMV VL, HIV Ab/Ag, hepatitis A/B/C serologies, Mycoplasma Ab, treponemal Ab, GC/CT, cryptococcal Ab, Histoplasma Ab, Beta-D-Glucan, galactomannan, babesia microti Ab. Rheumatologic testing was notable for ANA 1:40 (homogeneous), RF 19 (ref 0-15) and otherwise pan-negative. CT head/neck showed enlarged bilateral tonsils and cervical lymph nodes (largest 3.2cm) without abscess. Cervical lymph node biopsy showed polymorphous lymphocytes without malignancy. The patient was ultimately thought to have periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). She received prednisone 60mg with planned taper and colchicine 0.6mg BID for prophylaxis with fever and symptom resolution. She was discharged with plan for possible tonsillectomy.
Discussion: PFAPA, first described in 1987 as Marshall’s Syndrome, is a periodic syndrome of abrupt onset of fever, malaise, aphthous stomatitis, pharyngitis, and tender cervical adenopathy [1]. PFAPA is a diagnosis of exclusion. Distinguishing characteristics from other periodic fever syndromes include lack of URI symptoms (aside from pharyngitis), lack of response to antibiotics, immediate response to a single dose of corticosteroids, and lack of risk factors for autoinflammatory syndromes [2]. The patient’s treatment included the PFAPA consensus treatment plan: antipyretics, corticosteroids, prophylaxis with colchicine, and referral for possible tonsillectomy [3].PFAPA syndrome is the most common condition causing periodic fever in children, with most cases diagnosed in ages five and under [4]. However, cases of PFAPA in adulthood have been reported with increasing frequency [5, 6]. A comparison study of pediatric and adult PFAPA patients showed that adults are significantly less likely than children to have pharyngitis and more likely to have fatigue, thoracic pain, periorbital pain, and skin rash [7].
Conclusions: PFAPA syndrome is a clinical entity being described more commonly in adult populations. This diagnosis should be considered in the broad differential diagnosis for adult patients with recurrent febrile illness, particularly in those whom exhaustive infectious and rheumatologic evaluation has been unrevealing, who do not have non-pharyngitis UTI symptoms, and who respond to a single dose of corticosteroids but not antibiotics.