Evaluation of Lung Disease in Adults with Osteogenesis Imperfecta: A Cross-Sectional, Multi-Center Study.
Academic Article
Overview
abstract
BACKGROUND: Osteogenesis imperfecta (OI) is a group of hereditary connective tissue disorders characterized by frequent fractures. Although cardiopulmonary impairment is a leading cause of mortality in the OI population, our understanding of the etiology of cardiopulmonary issues in OI remains limited. RESEARCH QUESTION: What are the cardiopulmonary outcomes and differences in pulmonary function in a cohort of 60 adults with OI? STUDY DESIGN AND METHODS: This IRB-approved, cross-sectional, multi-center study included 60 adults (39 F, 21 M) with OI. Spine radiographs (AP/lateral) were evaluated for scoliosis (curve >10°), using the largest curve for analysis. Restrictive physiology on PFT was defined by FEV1/FVC >80%. Chest CTs were qualitatively evaluated for evidence of lung disease and restriction. Cardiac health was assessed via echocardiogram and EKG. Analysis included descriptive statistics, non-parametric Kruskal Wallis tests, and bivariate correlation analysis using Spearman's rho coefficient (p<0.05). RESULTS: Mean age was 42±15 years. Forty-three of 59 individuals (72.9%) presented with scoliosis. Two-thirds of participants had restrictive physiology on PFT, with no significant correlation between curve magnitude and pulmonary function (R=0.127, p=0.338). Forty-eight of 56 chest CTs (85.7%) showed abnormalities (bronchial wall thickening, ground glass, atelectasis, bronchiectasis). Bronchial wall thickening was common in both sexes and seen across all OI types. Thirty of 52 EKGs (57.7%) had abnormalities, including tachycardia, abnormal ventricular relaxation, and T-wave abnormalities. Forty-one of 50 participants (82%) had trace mitral, tricuspid, or pulmonic regurgitation on echocardiogram. INTERPRETATION: Given the weak correlation of pulmonary function and curve magnitude, respiratory impairment may be intrinsic to OI, rather than exclusively a secondary effect of scoliosis. High-resolution CT scanning of the lungs holds great utility for clinically evaluating pulmonary abnormalities in patients with OI. Future studies are necessary to better understand the etiology of bronchial wall thickening and bronchiectasis in OI.
