TOPIC: Pulmonary Manifestations of Systemic Disease
      TYPE: Medical Student/Resident Case Reports
      INTRODUCTION: Amyloidosis is characterized by infiltration of insoluble extracellular proteins in multiple organs (Figure 1)1. Localized pulmonary disease is a rare presentation with less than 250 cases reported2. There are four patterns of pulmonary involvement: diffuse and nodular parenchymal; and diffuse and nodular tracheobronchial amyloidosis. Nodular disease has a more benign prognosis3. Diffuse tracheobronchial amyloidosis is the least common, representing 10% of cases4. It is characterized by submucosal distribution of amyloid deposits in the trachea and bronchi. It typically presents in the fourth or fifth decade with symptoms of cough, dyspnea, wheezing, and recurrent lower respiratory tract infections5.
      CASE PRESENTATION: The patient was a 75 year old Caucasian female with a past medical history of hypothyroidism, hyperlipidemia and biopsy-proven AL-lambda type tracheobronchial amyloid. At age 55 she was referred for evaluation of progressive exertional dyspnea. Her physical examination was unremarkable except for mild to moderate expiratory wheeze throughout the lungs bilaterally. Pertinent laboratory tests showed a normal complete blood count, electrolytes, renal and liver tests. Computed tomography (CT) chest was significant for nodular thickening of the tracheal and proximal bronchial walls with extensive calcifications (Figure 2). Rigid and flexible bronchoscopy confirmed complex tracheal stenosis 4 cm below the vocal cords and severe stenosis of the mainstem bronchi. Tracheal biopsy confirmed amyloidosis (Figure 3). Given her severe symptoms she was initially treated with endoluminal laser ablation and sequential balloon dilation. She had significant improvement in dyspnea and did well for approximately 14 months. She then underwent treatment with external beam radiation but after receiving maximal mediastinal radiation bronchoscopic interventions were resumed. She continued to experience recurrent symptoms requiring dilation every 6-12 months over a period of 20 years.
      DISCUSSION: There is no definitive consensus for treatment of tracheobronchial amyloidosis. Significant morbidity and mortality is associated with the disease due to recurrent airway obstructions and subsequent respiratory infections and respiratory failure. Airway stenosis associated with tracheobronchial amyloidosis can be managed with various bronchoscopic interventions including mechanical debridement, laser ablation, balloon dilation and stent placement6.
      CONCLUSIONS: Our patient demonstrated excellent response to advanced bronchoscopic interventions despite recurrent severe disease, and to our knowledge represents the oldest living patient successfully managed with minimally-invasive interventions with improved quality of life.
      REFERENCE #1: 1. Bhadra K, Butnor KJ, Davis GS. A bronchoscopic oddity: nodular tracheobronchial amyloidosis. J Bronchology Interv Pulmonol. 2010 Jul;17(3):248-52.
      REFERENCE #2: 2. Lang SM, Täuscher D, Füller J, Müller AH, Schiffl H. Multifocal primary amyloidosis of the airways: Case report and review of the literature. Respir Med Case Rep. 2015 May 27;15:115-7.
      REFERENCE #3: 3. Utz JP, Swensen SJ, Gertz MA. Pulmonary amyloidosis. The Mayo Clinic experience from 1980 to 1993. Ann Intern Med. 1996 Feb 15;124(4):407-13.
      DISCLOSURES: No relevant relationships by Waqas Aslam, source=Web Response
      Consultant relationship with Veracyte Please note: 2019-2021 Added 06/23/2021 by Carla Lamb, source=Web Response, value=Honoraria
      No relevant relationships by Vivek Sinanan, source=Web Response