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CASE REPORT
Symptomatic patients with P369S–R408Q mutations: familial Mediterranean fever or mixed auto-inflammatory syndrome?
  1. Kristen Davies1,
  2. Bradley Lonergan2,
  3. Rikesh Patel3 and
  4. Marwan Bukhari4
  1. 1 Northumbria Healthcare NHS Foundation Trust, Northumberland, UK
  2. 2 University Hospitals of Morecambe Bay NHS Trust, Lancaster, UK
  3. 3 Salford Royal NHS Foundation Trust, Manchester, UK
  4. 4 Rheumatology, University Hospitals of Morecambe Bay, Lancaster, UK
  1. Correspondence to Dr Kristen Davies, kristen.davies4{at}gmail.com

Abstract

A 51-year-old South African female of Ashkenazi Jewish descent was admitted with acute pleuritic chest pain, shortness of breath, fatigue and fever. She experienced vague abdominal and calf pains for 30 years. Her monozygotic twin was investigated independently for recurrent abdominal pain. Despite initially responding to antibiotics, treating suspected pneumonia, she developed recurrent fevers and pleuritic chest pain. After thorough investigation without significant findings, she re-attended days after discharge with similar symptoms. Familial Mediterranean fever (FMF) was suggested as she met diagnostic criteria and responded to colchicine, though FMF normally presents before 20 years old. Genetic testing showed no pathogenic mutations but heterozygous P369S and R408Q mutations. The significance of these mutations remains unclear, as they are found in asymptomatic patients, suggesting incomplete penetrance. She remains well, with full symptom resolution, but mixed auto-inflammatory syndrome may be a more appropriate diagnosis in symptomatic patients with both P369S and R408Q mutations.

  • immunology
  • rheumatology
  • connective tissue disease
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Footnotes

  • Contributors KD and BL drafted, wrote and edited the manuscript. RP and MB reviewed the manuscript and approved the final version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests MB has been sponsored to attend national and international meetings by Union Chimique Belge (UCB) celltech, Roche/Chugai, Pfizer, Abbvie, Merck, Mennarini and Eli-lilly and has received honoraria 20 for speaking and attended advisory boards with Bristol- Myers Squib, UCB Celltech, Roche/Chugai/Pfizer, Abbvie, Merck and Mennarini.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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