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[Fever and abdominal pain. A case of familial mediterranean fever]

R Perelló Carbonell1, A Smithson Amat, A Supervía Caparrós

  • 1Servicio de Urgencias, Hospital del Mar, Barcelona. rperello@imas.imim.es

Anales De Medicina Interna (Madrid, Spain : 1984)
|January 5, 2005
PubMed

Insights

Familial Mediterranean Fever (FMF) is a rare genetic disorder causing recurrent fever and pain. Early diagnosis is crucial to prevent severe complications like amyloidosis.

Area of Science:

  • Genetics and Molecular Biology
  • Internal Medicine
  • Rheumatology

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive hereditary disease.
  • Characterized by recurrent episodes of fever, abdominal pain, and pleuritic chest pain due to serositis.
  • Amyloidosis is the most severe complication and a leading cause of mortality.

Observation:

  • The case involves a 30-year-old male presenting with recurrent thoracic and abdominal pain.
  • The patient's symptoms mimicked acute abdominal conditions and pleuritic pain.
  • The prevalence of FMF is noted to be low in the specific geographical area.

Findings:

  • The patient was ultimately diagnosed with Familial Mediterranean Fever (FMF).
  • The case highlights the diagnostic challenges associated with recognizing FMF.
  • The patient's ethnic background is relevant to the typical FMF demographic.

Implications:

  • Emphasizes the importance of considering rare genetic disorders in differential diagnoses.
  • Highlights the need for increased awareness among clinicians regarding FMF.
  • Underscores the potential for severe outcomes if FMF is not promptly identified and managed.

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