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Familial Mediterranean fever without cardinal symptoms and role of genetic screening

T Ulas1, H Buyukhatipoglu, C Bes

  • 1Faculty of Medicine, Department of Internal Medicine, Harran University, Şanlıurfa, Turkey. turgayulas@yahoo.com

Reumatismo
|July 31, 2012
PubMed

Insights

Familial Mediterranean Fever (FMF) typically presents with abdominal pain and fever. This case highlights an atypical epigastric pain presentation of FMF, diagnosed via genetic testing and treated successfully with colchicine.

Area of Science:

  • Genetics
  • Immunology
  • Internal Medicine

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • Characterized by recurrent episodes of fever and serosal inflammation, predominantly affecting the abdomen.
  • Classical FMF presentation includes severe abdominal pain and fever, with patients asymptomatic between attacks.

Observation:

  • A 34-year-old male presented with an atypical, incomplete episode of FMF.
  • Symptoms were limited to epigastric pain, lacking cardinal FMF signs like fever and widespread serositis.
  • This presentation deviated significantly from the typical FMF phenotype.

Findings:

  • Diagnosis of FMF was confirmed through genetic screening.
  • The patient's atypical presentation underscores the variability in FMF manifestation.
  • Genetic analysis is crucial for diagnosing uncommon FMF presentations.

Implications:

  • This case expands the understanding of FMF clinical heterogeneity.
  • Highlights the importance of genetic testing in diagnosing atypical autoinflammatory diseases.
  • Successful colchicine treatment in this case reinforces its efficacy for FMF, even in unusual presentations.

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