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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Diffuse pulmonary amyloidosis that mimics interstitial lung disease in a patient with familial Mediterranean fever

Hakan Erdem1, Ismail Simşek, Salih Pay

  • 1Department of Medicine, Division of Rheumatology, Gülhane Military School of Medicine, Etlik/Ankara, 06018, Turkey. herdem67@gata.edu.tr

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases
|February 18, 2006
PubMed

Insights

Familial Mediterranean Fever (FMF) can cause AA amyloidosis. This case highlights rare pulmonary amyloidosis in an FMF patient presenting with lung disease symptoms, confirmed via biopsy and genetic testing.

Area of Science:

  • Rheumatology
  • Pulmonology
  • Genetics

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal-recessive autoinflammatory disorder.
  • AA amyloidosis, a complication of FMF, primarily affects kidneys but can involve lungs.
  • Clinically significant pulmonary amyloidosis secondary to FMF is exceptionally rare.

Purpose of the Study:

  • To report a rare case of pulmonary amyloidosis secondary to FMF.
  • To highlight diagnostic challenges in patients with FMF and suspected interstitial lung disease.
  • To emphasize the importance of biopsy for diagnosis.

Main Methods:

  • Case report of a patient with FMF, pulmonary hypertension, and suspected interstitial lung disease.
  • Diagnostic procedures included clinical evaluation, imaging, lung biopsy, and molecular analysis for FMF.
  • Histopathological examination of lung biopsy confirmed amyloid deposition.

Main Results:

  • The patient presented with symptoms and radiographic findings mimicking interstitial lung disease.
  • Pulmonary amyloidosis was diagnosed definitively via lung biopsy.
  • Molecular analysis confirmed the diagnosis of FMF.

Conclusions:

  • Pulmonary amyloidosis is a rare but possible complication of FMF.
  • Patients with FMF and unexplained lung disease may have pulmonary amyloidosis.
  • Early diagnosis and management are crucial to prevent severe complications.

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