Chest
Original ResearchDiffuse Lung DiseaseLymphangioleiomyomatosis Screening in Women With Tuberous Sclerosis
Section snippets
Materials and Methods
We performed a retrospective review of chest CT scans for all female patients with TSC aged ≥ 15 years seen at the Tuberous Sclerosis Clinic at Cincinnati Children's Hospital Medical Center from 1999 to 2011. This study was approved by the institutional review board at Cincinnati Children's Hospital Medical Center and The University of Cincinnati (#2010-0776). The diagnosis of TSC was established using clinical criteria, by genetic analysis, or both. The initial conventional, volumetric, or
Study Subjects
We identified 133 female patients with TSC aged ≥ 15 years seen in our TSC clinic from 1999 to 2011, 82.7% of whom had undergone a chest CT scan (Fig 1). A subset of subjects were excluded from further analysis because the scans were not available for review (n = 3) or because inadequate quality precluded accurate interpretation (motion artifact, n = 4; spinal rods, n = 2). Of the 101 female subjects with CT scans of acceptable quality available for review, 48 (47.5%) had TSC-LAM based on the
Discussion
The long-term goal of this line of investigation is to develop strategies for safe and effective screening for TSC-LAM in this at-risk population. We identified age as a critical clinical risk factor for development of cystic lung disease in women with TSC, with marked increase in probability of LAM observed after age 30 years. As cystic lung disease prevalence was 81% in TSC subjects > 40 years of age, our data suggest that LAM may be nearly inevitable in women with TSC. Furthermore, we
Acknowledgments
Author Contributions: Dr Young is responsible for the overall study inception, execution, and data interpretation.
Dr Cudzilo: contributed to case ascertainment and chart review, CT scan review and scoring, study design, data analysis, and drafting of the manuscript.
Dr Szczesniak: contributed to study design, statistical analyses, data analysis, and drafting of the manuscript.
Dr Brody: contributed to CT scan review and scoring, study design, data analysis, and drafting of the manuscript.
Dr
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Drs Cudzilo and Szczesniak contributed equally to this manuscript.
Funding/Support: This study was supported by the Department of Defense [Grant W81XWH-10-1-0885 to Drs McCormack and Young].
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