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Familial Mediterranean fever: a differential diagnosis for the surgical abdomen
Nikita Cliff-Patel1, Baasil Syed Yusuf2,3, Shazia Hamdani1
1East Surrey Hospital, Redhill, UK.
Abstract:
FMF is characterised by dysregulation of the inflammatory process in the body, presenting as recurrent episodes of serositis. Patients with FMF commonly present with episodes of fever, peritonitis, synovitis, pleuritis, arthritis, and occasionally pericarditis. We present a case of a young 19-year old female, who presented to hospital four times over several months with intermittent fevers, abdominal pain and pleuritic chest pain. After being initially admitted under the surgical team, she was reviewed by the medical team who referred her for genetic testing, which subsequently confirmed the diagnosis. She was started on colchicine, and her symptoms remain well controlled one-year post diagnosis.
Insights
Familial Mediterranean fever (FMF) involves inflammatory episodes. This case highlights a young woman diagnosed with FMF through genetic testing, whose symptoms were effectively managed with colchicine.
Area of Science:
- Rheumatology
- Genetics
- Immunology
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder characterized by recurrent serositis.
- It presents with episodes of fever, abdominal pain, arthritis, and pleuritis, impacting patient quality of life.
Observation:
- A 19-year-old female experienced recurrent fevers, abdominal pain, and pleuritic chest pain over several months.
- Initial presentations led to surgical consultations before medical review and genetic testing.
Findings:
- Genetic testing confirmed the diagnosis of Familial Mediterranean fever (FMF).
- Treatment with colchicine resulted in significant symptom control and well-being one year post-diagnosis.
Implications:
- This case underscores the importance of considering FMF in young individuals with recurrent inflammatory symptoms.
- Early diagnosis and appropriate treatment, such as colchicine, are crucial for managing FMF effectively and preventing complications.
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