Severe Tracheobronchomalacia as a Cause of Recurrent Respiratory Failure in Ehlers-Danlos Syndrome Type IV

Abstract

SESSION TITLE: Airway Cases ISESSION TYPE: Affiliate Case Report SlidePRESENTED ON: Sunday, October 27, 2013 at 07:30 AM - 08:30 AMINTRODUCTION: Ehlers-Danlos Syndrome (EDS) type IV (vascular type) is a rare, hereditary disease caused by mutations within the gene for type III procollagen (COL3A1). Afflicted individuals commonly suffer from large vessel bleeding and premature death from arterial, bowel, and/or uterine rupture (1). Less frequently, but equally significant, are pulmonary complications including tracheobronchomalacia (TBM). To our knowledge, we describe the first case of a patient with EDS type IV with severe TBM who underwent silicone stent placement and eventual tracheobronchoplasty resulting in successful central airway stabilization and resolution of respiratory symptoms.CASE PRESENTATION: A 44 year old female with a complicated history of EDS type IV, presented with recurrent respiratory distress including audible stridor. CT imaging revealed a decrease in caliber of the central airways of greater than 50% on the expiratory phase which is diagnostic of TBM. Despite steroids, antibiotics, heliox and non-invasive positive pressure ventilation, she eventually required intubation. She was transferred to our institution and underwent flexible bronchoscopy which confirmed severe TBM. A dynamic Y stent was placed in the tracheobronchial tree; she was extubated in the OR and discharged home the next day. Subsequently, she required two hospitalizations for dyspnea, acute stridor due to transient stent migration and difficulty clearing sections. These complications were managed bronchoscopically and with a strict pulmonary toilet regimen. Six weeks following stent placement she showed significant symptomatic improvement and within 4 months she underwent successful tracheobronchoplasty at another institution.DISCUSSION: Serious and potentially fatal pulmonary complications such as airway obstruction from TBM may occur in subjects with EDS type IV. Treatment options for TBM remain largely supportive. When TBM is severe, airway stabilization with silicone stents can improve respiratory symptoms (2) and tracheobronchoplasty can then be pursued (3).CONCLUSIONS: To our knowledge, this is the first case report describing the use of silicone stenting for severe TBM associated with EDS that successfully provided airway stabilization and symptomatic relief until a tracheobronchoplasty was performed. The diagnosis of TBM should be considered in patients presenting with recurrent respiratory failure including patients with EDS.Reference #1: Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, The Vascular Type. NEJM 2000; 342:673-680Reference #2: Ernst A, Majid A, Feller-Kopman D, et al. Airway Stabilization With Silicone Stents for Treating Adult Tracheobronchomalacia. CHEST 2007; 132:609-613Reference #3: Majid A, Guerrero J, Gangadharan S, et al. Tracheobronchoplasty for Severe Tracheobronchomalacia: A Prospective Outcome Analysis. CHEST 2008; 134:801-807DISCLOSURE: The following authors have nothing to disclose: Alichia Paton, Preethi Rajan, Stephen Pastores, Neil Halpern, Mohit ChawlaNo Product/Research Disclosure Information