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The Importance of Genetic Factors in the Management of Spontaneous Pneumothorax

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Matsumoto, Kenki 
Marciniak, Stefan J. 


Abstract: Purpose of Review: Spontaneous pneumothoraces can be the presenting phenotype in a variety of different syndromic genetic conditions. Respiratory physicians therefore have the opportunity to diagnose and manage these patients early to prevent serious complications associated with these syndromes. Recent Findings: The genetic syndromes that present with pneumothoraces can be split broadly between those resulting from defective extracellular matrix formation and those caused by defective tumour-suppressor pathways. When connective tissues are weakened, lifelong surveillance for arterial dilatation can be life-saving as surgical intervention is effective. Long-term aggressive treatment of blood pressure can also commence, although some controversy surrounds which drugs are most effective and precisely how these drugs modify disease progression. Rational treatments of syndromes in which tumour suppressor function is lost are being developed and, in some instances, can already be offered. Summary: Careful clinical assessment of spontaneous pneumothorax may identify an underlying causal condition and facilitate life-saving intervention. Respiratory physicians must therefore be aware of these diseases and their diagnostic criteria.


Funder: University of Cambridge


Pleural Diseases and Mesothelioma (H Davies, Section Editor), Topical Collection on Pleural Diseases & Mesothelioma, Pneumothorax, Marfan syndrome, Vascular Ehlers Danlos syndrome, vEDS, Loeys-Dietz, Tuberous sclerosis complex, TSC, Lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, Genetics

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Current Pulmonology Reports

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Springer US