Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis

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.

Keywords

lymphangioleiomyomatosis / lymphangiomyomatosis / multicystic lung disease / diffuse cystic lung disease / transbronchial biopsy / perivascular epithelioid cell tumor (PEComa) / HMB-45

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Acknowledgements

We would like to thank the LAM Foundation for their assistance with contacting patients and hospitals, and Thomas V. Colby, MD Professor of Laboratory Medicine and Pathology at Mayo Clinic Foundation.

RIGHTS & PERMISSIONS

2014 Higher Education Press and Springer-Verlag Berlin Heidelberg