We're celebrating
40 years!
Last updated:
August 30, 2021
Years published: 2021
NORD gratefully acknowledges Greg Cichon, MD candidate, Creighton School of Medicine and Rudy Lackner, MD, Chief of Thoracic Surgery, University of Nebraska Medical Center, for the preparation of this report.
Summary
Tracheobronchomalacia (TBM) is a condition caused by a weak airway that collapses when the patient breathes. It can present either at birth or in adulthood with a cough, shortness of breath and/or recurrent infections.
TBM occurs when the walls of the airway (specifically the trachea and bronchi) are weak. As the patient breathes out, the weak airway collapses partially or completely. There are two forms of TBM: primary (congenital) and secondary (acquired). Primary TBM typically presents at birth or during infancy due to a malformed airway. Secondary TBM is an acquired form usually seen in adults with weakened airways. Symptoms include shortness of breath, a “barking” cough, chronic airway infections, and/or wheezing or stridor with breathing. These symptoms may mimic other diseases or not be present at all, which makes TBM more difficult to diagnose and likely less rare than previously thought. A pulmonologist confirms the diagnosis and severity with a flexible bronchoscopy. Case severity may vary widely, but prognosis has continually improved with supportive measures.
Introduction
Primary tracheobronchomalacia is caused by congenital conditions that weaken or compress the walls of the airway (i.e. tracheoesophageal fistula, esophageal atresia, or Ehlers-Danlos syndrome). Secondary or acquired TBM may occur due to trauma (i.e. prolonged intubation or trachea surgery) and is always associated with another condition (i.e. COPD, asthma, chronic infections, heartburn, and sleep apnea). The exact mechanism causing TBM is largely unknown. Treatment may only be needed if signs and symptoms are present and affecting the patient’s quality of life. Depending on severity, treatment options may include continuous positive airway pressure (CPAP), stenting, or tracheobronchoplasty.
Many patients with TBM are asymptomatic. The most common symptoms include:
Adults with secondary TBM will have symptoms that progressively get worse over time.
Primary TBM (present at birth) can be due to:
Causes of acquired TBM which presents in adulthood are often unknown but may be associated with:
These conditions can cause the breakdown of the cartilage that holds open the airway, resulting in tracheobronchomalacia.
Primary TBM is a relatively uncommon condition, estimated to occur in 1 in 1,445-2,100 livebirths. The genetic factors associated with primary TBM are unknown. However, primary tracheobronchomalacia is often associated with certain genetic conditions or structural birth defects, particularly tracheoesophageal fistula and esophageal atresia.
Secondary TBM is not inherited. It occurs in patients with underlying conditions or exposures that weaken the cartilage in the airway (see Causes).
A dynamic CT scan and flexible bronchoscopy can confirm the diagnosis and evaluate the severity of the condition. The patient is awake but numbed during the flexible bronchoscopy and asked to take deep breaths or cough. TBM is considered mild if the trachea narrows to 50% of its initial size as the patient is breathing out, moderate if it narrows to 25%, and severe if the walls of the trachea touch.
Clinical Testing and Work-up
The presenting symptoms of shortness of breath, a “barking” cough, and chronic infections may first raise suspicion for TBM. The next step is often to obtain pulmonary function tests which are abnormal. To make the diagnosis and determine the severity, a physician will likely order a chest CT scan and bronchoscopy. These tests are important to rule out other conditions such as asthma, a foreign body and pneumonia. To determine the proper treatment, the doctor will investigate possible underlying issues causing the disease.
Before pursuing surgery, the treatment team will try treating the underlying cause, if one is present. Chronic infections and traumas should be treated first, if possible. If the cause of the TBM is genetic or cannot be corrected with medical therapies, other avenues will be explored. Patients may receive continuous positive airway pressure (CPAP), a machine often used for obstructive sleep apnea that pushes air into the lungs to keep them inflated. A silicone stent may be inserted to hold open the airway. More severe cases require surgical correction of the weakened airway (see Treatment).
Treatment
TBM is managed by a team of specialists working together, which includes interventional pulmonologists, respiratory therapists, radiologists, and surgeons. Treatment may only be needed if signs and symptoms are present, quality of life is impaired, and/or there is complete or near-complete collapse of the airway. Age and other conditions that a patient has may also be factors that the treatment team considers in deciding about advanced treatment. Initial management of symptoms may depend on whether an underlying condition is contributing to symptoms, and whether that condition can be managed. In some patients, treating the underlying condition improves the symptoms of TBM. Depending on severity, treatment options for TBM that continues to progress may include:
Even with treatment, continued surveillance is recommended to identify any progression or recurrence of symptoms.
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
Kamran A, & Jennings RW. Tracheomalacia and tracheobronchomalacia in pediatrics: an overview of evaluation, medical management, and surgical treatment. Frontiers in Pediatrics 2019; 7. doi:10.3389/fped.2019.00512
Choi S, Lawlor C, Rahbar R, & Jennings R. Diagnosis, classification, and management of pediatric tracheobronchomalacia. JAMA Otolaryngology–Head & Neck Surgery. 2018. doi:10.1001/jamaoto.2018.3276
de Lima A, Kheir F, Majid A. et al. Anesthesia for interventional pulmonology procedures: a review of advanced diagnostic and therapeutic bronchoscopy. Can J Anesth/J Can Anesth. 2018; 65, 822–836. https://doi.org/10.1007/s12630-018-1121-3.
Buitrago DH, Wilson JL, Parikh M, Majid A, Gangadharan SP. Current concepts in severe adult tracheobronchomalacia: evaluation and treatment. J Thorac Dis. January, 2017; 9(1):E57-E66. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303067/
Majid A. Tracheomalacia and tracheobronchomalacia in adults. UpToDate. Waltham, MA: UpToDate; June 3, 2016; https://www.uptodate.com/contents/tracheomalacia-and-tracheobronchomalacia-in-adults.
Ernst A, Carden K, Gangadharan SP. Tracheomalacia and tracheobronchomalacia in adults. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2015;
https://www.uptodate.com/contents/tracheomalacia-and-tracheobronchomalacia-in-adults
Oermann CM. Congenital anomalies of the intrathoracic airways and tracheoesophageal fistula. UpToDate. 2015; https://www.uptodate.com/contents/congenital-anomalies-of-the-intrathoracic-airways-and-tracheoesophageal-fistula
Schwartz DS. Tracheomalacia. Medscape Reference. March 2014; https://emedicine.medscape.com/article/426003-overview.
Choo EM, Seaman JC, Musani AI. Tracheomalacia/Tracheobronchomalacia and hyperdynamic airway collapse. Immunol Allergy Clin North Am. 2013; 33(1):23-34. https://www.ncbi.nlm.nih.gov/pubmed/23337062.
de Mello RA, Magalhães A, Vilas-Boas AJ. Stridor and respiratory failure due to tracheobronchomalacia: case report and review of the literature. Sao Paulo Med J. 2012; 130(1):61-64.
Ridge CA, O’Donnell CR, Lee EY, Majid A, Boiselle PM. Tracheobronchomalacia: current concepts and controversies. Journal of Thoracic Imaging. 2011; 26:278-289. https://www.ncbi.nlm.nih.gov/pubmed/22009081.
Carden KA, Boiselle PM, Waltz DA, and Ernst A.. Tracheomalacia and tracheobronchomalacia in children and adults: an in-depth review. Chest. 2005; 127(3):984-1005. https://www.ncbi.nlm.nih.gov/pubmed/15764786.
NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/No patient organizations found related to this disease state.