Evaluation of Lung Disease in Adults With Osteogenesis Imperfecta: A Cross-Sectional, Multicenter 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 population with OI, our understanding of the cause 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 institutional review board-approved, cross-sectional, multicenter study included 60 adults (39 female patients and 21 male patients) with OI. Spine radiographs (anteroposterior and lateral) were evaluated for scoliosis (curve > 10°), using the largest curve for analysis. Restrictive physiologic features on pulmonary function testing was defined by an FEV1 to FVC ratio of > 80%. Chest CT scans were evaluated qualitatively for evidence of lung disease and restriction. Cardiac health was assessed via echocardiography and ECG. Analysis included descriptive statistics, nonparametric Kruskal-Wallis tests, and bivariate correlation analysis using Spearman ρ coefficient (P < .05). RESULTS: Mean (SD) age was 42 (15) years. Forty-three of 59 patients (72.9%) demonstrated scoliosis. Two-thirds of participants showed restrictive physiologic features on pulmonary function testing, with no significant correlation between curve magnitude and pulmonary function (R = 0.127; P = .338). Forty-eight of 56 chest CT scans (85.7%) showed abnormalities (bronchial wall thickening, ground glass, atelectasis, bronchiectasis). Bronchial wall thickening was common in both sexes and was seen across all OI types. Thirty of 52 ECGs (57.7%) showed abnormalities, including tachycardia, abnormal ventricular relaxation, and T-wave abnormalities. Forty-one of 50 participants (82%) showed trace mitral, tricuspid, or pulmonic regurgitation on echocardiography. INTERPRETATION: Our results show that 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 usefulness for evaluating pulmonary abnormalities clinically in patients with OI. Future studies are necessary to understand better the cause of bronchial wall thickening and bronchiectasis in OI.
