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Frontiers of Medicine >> 2012, Volume 6, Issue 4 doi: 10.1007/s11684-012-0231-5

Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis

1. Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati School of Medicine, Cincinnati, OH 45529, USA;

2. Pathology and Laboratory Medicine, Cincinnati Children’s Hospital Medical Center and University of Cincinnati School of Medicine, Cincinnati, OH 45529, USA;

3. Division of Pediatric Pulmonary Medicine, Department of Pediatrics, Vanderbilt University, Nashville, TN 37232, USA;

4. The LAM Foundation, Executive Drive, Cincinnati, OH 45241, USA

Available online: 2012-12-05

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Abstract

Pulmonary lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that targets women during their reproductive years. A confident diagnosis can often be based on clinical grounds, but diagnostic certainty requires pathological analysis. Although surgical lung biopsy is considered the gold standard for obtaining tissue in patients with diffuse lung disease, it is also associated with higher morbidity and mortality than alternative, less invasive techniques. The objective of our study was to examine the utility of transbronchial biopsy in the diagnosis of LAM. We conducted two online surveys of over 1 000 LAM patients registered with the LAM Foundation who were accessible by email. Transbronchial biopsy specimens were subsequently collected and reviewed by an expert pathologist to validate the diagnosis. We found that transbronchial biopsy has a yield of approximately 60% in patients with LAM. We conclude that transbronchial biopsy may be a safe and effective method for establishing the diagnosis of LAM, obviating the need for surgical lung biopsy in more than half of LAM patients.

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