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Disease Profile

Tracheobronchomalacia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

TBM

Categories

Lung Diseases

Summary

Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse.[1] There are two forms of TBM. One typically develops during infancy or early childhood (primary TBM). The other is an acquired form usually seen in adults (acquired or secondary TBM).[2] Some people with TBM may initially have no signs or symptoms. However, the condition typically is progressive (worsening over time) and most people will eventually develop shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and/or wheezing or stridor with breathing.[1][3] Most cases of primary TBM are caused by genetic conditions that weaken the walls of the airway, while the acquired form may occur due to trauma, chronic inflammation, and/or prolonged compression of the airways.[2][1] The acquired form is often seen in adults with common respiratory conditions such as asthma, chronic bronchitis, and emphysema. In many cases, the cause is not known. Treatment may only be needed if signs and symptoms are present, of there is complete or near-complete collapse of the airway.[4] Depending on severity, treatment options may include continuous positive airway pressure (CPAP)stenting, surgical correction (tracheobronchoplasty), and tracheostomy.[1][5][6][4]

Symptoms

Tracheobronchomalacia (TBM) occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typically develops during infancy or early childhood, while secondary TBM (also called acquired TBM) is usually seen in adults.[1]

Some people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and many people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Symptoms may become worse during periods of stress (i.e. illness), when reclining, or when forcing a cough. Infants and young children with TBM tend to have more frequent respiratory infections and delayed recovery from these illnesses.[1][7][2]

Cause

The cause of tracheobronchomalacia (TBM) varies depending on whether a person has primary TBM (also called congenital TBM) or acquired TBM (also called secondary TBM). Most cases of primary TBM are caused by underlying genetic conditions that weaken the walls of the airway (the trachea and bronchi). For example, primary TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (such as a tracheoesophageal fistula).[3][1][5] A small proportion of adults with TBM have the primary form but are not diagnosed until adulthood.[4]

Acquired TBM is generally caused by the degeneration (break down) of cartilage that typically supports the airways. In most adults with acquired TBM, the underlying cause of this cannot be identified.[4] Many adults diagnosed with acquired TBM have common respiratory conditions such as asthma, chronic bronchitis and emphysema.[4] Acquired TBM may be associated with inflammatory conditions (such as relapsing polychondritis), exposure to toxins (e.g. mustard gas), enlargement of structures near the airway (such as goiter or a tumor), and complications from medical procedures (such as endotracheal intubation).[3][1][5][4]

Diagnosis

A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severity of the condition. TBM is considered mild if the trachea narrows to 50% of its initial size while the affected person is breathing out, moderate if it narrows to 25%, and severe if the walls of the trachea touch.[1]

Treatment

TBM ideally should be managed by a team of specialists working together, which includes interventional pulmonologists, radiologists, and thoracic 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.[4] Initial management of symptoms may depend on whether an underlying condition is contributing to symptoms, and whether that condition can be managed.[1] In some cases, treating the underlying condition improves the symptoms of TBM.[8] Depending on severity, treatment options for TBM that continues to progress may include:[1][5][6][4][8]

  • Silicone and/or long-term stenting.
  • Tracheobronchoplasty this is a surgical procedure used to stabilize the central airway by splinting the posterior wall of the trachea with mesh. The mesh becomes incorporated into the wall of the trachea and then stiffens. A person may be considered a candidate for this procedure depending on results of a short-term trial of stenting.
  • Resection and reconstruction this is a surgical procedure that may be used when TBD is more confined (focal).
  • Continuous positive airway pressure (CPAP) this has shown variable success and requires an external device which may interfere with daily activities.
  • Tracheostomy this may be used as a last resort and can sometimes worsen TBM.

Even with treatment, continued surveillance is recommended to identify any progression or recurrence of symptoms.[4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Tracheobronchomalacia. Click on the link to view a sample search on this topic.

      Selected Full-Text Journal Articles

        References

        1. 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.
        2. Christopher M Oermann, MD. 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.
        3. 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. Accessed 9/12/2013.
        4. 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/.
        5. 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. Accessed 11/20/2012.
        6. Choo EM, Seaman JC, Musani AI.. Tracheomalacia/Tracheobronchomalacia and hyperdynamic airway collapse. Immunol Allergy Clin North Am. February 2013; 33(1):23-34.
        7. Daniel S Schwartz, MD, FACS. Tracheomalacia. Medscape Reference. March 2014; https://emedicine.medscape.com/article/426003-overview.
        8. Majid A. Tracheomalacia and tracheobronchomalacia in adults. UpToDate. Waltham, MA: UpToDate; June 3, 2016; https://www.uptodate.com/contents/tracheomalacia-and-tracheobronchomalacia-in-adults.
        9. Choo EM, Seaman JC, Musani AI. Tracheomalacia/Tracheobronchomalacia and hyperdynamic airway collapse. Immunol Allergy Clin North Am. February, 2013; 33(1):23-34. https://www.ncbi.nlm.nih.gov/pubmed/23337062.
        10. 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.

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