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[Cardiac tamponade as first manifestation in Mediterranean fever with autosomal dominant form]

F Sánchez Ferrer1, M Martinez Villar2, A Fernández Bernal2

  • 1Servicio de Pediatría, Hospital Universitario de San Juan, Alicante, España.

Anales De Pediatria (Barcelona, Spain : 2003)
|December 25, 2013
PubMed

Insights

Familial Mediterranean fever (FMF) is a rare genetic disorder causing recurrent fevers and inflammation. Early diagnosis and colchicine treatment are crucial for preventing severe complications like amyloidosis.

Area of Science:

  • Genetics
  • Rheumatology
  • Pediatrics

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
  • Characterized by recurrent episodes of fever, serositis, and inflammation.
  • Amyloidosis is a significant complication, leading to organ damage and mortality.

Observation:

  • A 13-year-old child presented with recurrent fevers, pericarditis, and cardiac tamponade.
  • Diagnosis of FMF was established following these episodes.
  • Genetic testing revealed an autosomal dominant inheritance pattern.

Findings:

  • The patient's FMF diagnosis was confirmed through clinical presentation and genetic testing.
  • The identified autosomal dominant inheritance is less common than the recessive form.
  • Colchicine treatment is standard for preventing FMF attacks and amyloidosis.

Implications:

  • Highlights the importance of considering FMF in pediatric cases with recurrent serositis and cardiac involvement.
  • Emphasizes the diagnostic value of genetic testing for FMF, especially in atypical inheritance patterns.
  • Reinforces the efficacy of colchicine in managing FMF and preventing severe complications like amyloidosis.
Keywords:
Autosomal dominantAutosómico dominanteCardiac tamponadeFiebre mediterránea familiarMediterranean feverTaponamiento cardiaco

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