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Pulmonary alveolar microlithiasis and probe-based confocal laser endomicroscopy

Jonas Yserbyt1, Touffic Alamé, Christophe Dooms

  • 1Department of Clinical and Experimental Medicine, Respiratory Division, University Hospitals, University of Leuven, Belgium. jonas.yserbyt@uzleuven.be

Journal of Bronchology & Interventional Pulmonology
|April 24, 2013
PubMed

Insights

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease. This study highlights varied sibling presentations and introduces novel endoscopic findings using probe-based confocal laser endomicroscopy for diagnosing familial PAM.

Area of Science:

  • Pulmonology
  • Rare Diseases
  • Medical Imaging

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare interstitial lung disease characterized by calcium-phosphate microlith accumulation in alveoli.
  • Familial cases of PAM present with variable clinical severity and radiological distribution.

Observation:

  • Two siblings with familial PAM exhibited distinct disease manifestations.
  • Immune cytologic analysis of bronchoalveolar lavage (BAL) revealed CD4 alveolitis in the more affected sibling, but a normal BAL in the less affected one.
  • Probe-based confocal laser endomicroscopy (pCLE) was utilized for the first time to visualize alveolar microliths.

Findings:

  • Immune cytologic BAL analysis showed low specificity in diagnosing familial PAM.
  • pCLE provided novel endoscopic visualization of alveolar microliths in PAM.
  • Clinical presentation and radiological findings varied significantly between affected siblings.

Implications:

  • This study expands the understanding of familial PAM's heterogeneous presentation.
  • pCLE offers a potential new diagnostic tool for PAM, providing direct visualization of microliths.
  • The findings underscore the limitations of BAL cytology in familial PAM diagnosis.

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