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Familial Mediterranean fever presenting with pulmonary embolism

Ximena D Ruiz1, Carlos M Gadea

  • 1University of Connecticut Heath Center, Department of Medicine. 230 Farmington Avenue, Farmington, CT 06030-1235, USA. xruiz@resident.uchc.edu

Connecticut Medicine
|February 19, 2011
PubMed

Insights

Familial Mediterranean fever (FMF), an autoinflammatory disease, can increase pulmonary embolism risk due to chronic inflammation. Early diagnosis and treatment are crucial for managing this hereditary periodic fever syndrome.

Area of Science:

  • Rheumatology
  • Genetics
  • Pulmonology

Background:

  • Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent fever and serositis.
  • FMF is typically inherited in an autosomal recessive pattern and is most prevalent in Eastern Mediterranean populations.
  • Inflammation in FMF can alter hemostatic mechanisms, potentially favoring thrombosis.

Observation:

  • A 43-year-old Turkish patient presented with pleuritic chest pain and pulmonary embolism.
  • The patient had a history of serositis attacks but no prior FMF diagnosis.
  • Workup revealed elevated acute-phase reactants and heterozygosity for the M694V MEFV gene mutation.

Findings:

  • The patient's pulmonary embolism was linked to untreated FMF and chronic inflammation.
  • Hypercoagulability studies were negative, suggesting inflammation as the primary prothrombotic driver.
  • This case supports the association between FMF-related inflammation and increased thrombotic risk.

Implications:

  • Highlights the potential for prothrombotic states in FMF patients, even without amyloidosis or nephrotic syndrome.
  • Emphasizes the importance of considering FMF in patients with unexplained serositis and thrombotic events.
  • Suggests that managing chronic inflammation in FMF may be key to preventing thromboembolic complications.

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