Synchronous disease onset and flares in siblings with PFAPA

Here, we report the case of two siblings with PFAPA who experienced near simultaneous onset of disease and, subsequently, synchronized fever episodes. Patient A is a 5-year-old female presenting with fever occurring every 4 weeks, lasting 5 days with a maximum temperature of 38.9 °C. She was noted to have aphthous ulceration, pharyngeal erythema, enlarged tonsils, and enlarged cervical lymph nodes when febrile. She would also report sore throat, mild abdominal pain, tiredness and slightly decreased oral intake. She was otherwise asymptomatic between episodes with normal growth and development.

Five days after the onset of fever in Patient A, her 2-year-old sister (Patient B) began experiencing fever occurring every 4 weeks, lasting 5 days with a maximum temperature of 40.0 °C. Aphthous ulceration and enlarged cervical lymph nodes were also noted. She was otherwise asymptomatic between episodes with normal growth and development. The episodes followed a consistent pattern such that Patient B experienced onset of each fever five days after fever onset in Patient A.

Episodes in both patients were characterized by elevated acute phase reactants, with the absence of neutropenia. During an acute disease flare, erythrocyte sedimentation rate was elevated to 82 mm/h in Patient A and 120 mm/h in Patient B (range 0–20 mm/h), while C-reactive protein was elevated to 48.6 mg/L in Patient A and 226 mg/L in Patient B (range 0–5 mg/L). Workup by infectious diseases, hematology, and oncology was unremarkable and included CBC, inflammatory markers, and throat culture. Patient A’s workup also included a comprehensive metabolic panel, quantitative immunoglobulins, Epstein-Barr Virus quantitative PCR and serology, and Borrelia PCR. Both patients demonstrated a robust response to prednisolone, with complete resolution of fever within hours.

Nine months after onset, the family opted for tonsillectomy and adenoidectomy for Patient A given her older age, resulting in dramatic resolution of her fever episodes, which have not recurred at nine-month follow-up. Shortly after Patient A’s tonsillectomy, Patient B experienced two fevers inconsistent with her typical episodes, as she had rhinorrhea and cough raising greater suspicion for viral syndrome. Otherwise, she has had no recurrence of fever. Of note, the patients’ father and paternal aunt experienced recurrent pharyngitis, which resolved following tonsillectomy in childhood. The father is of Chinese and Srilankan ancestry, and the mother is of European Ashkenazi Jewish ancestry.

留言 (0)

沒有登入
gif