Research Reveals 1 in 3,000 Individuals at Risk of Pneumothorax Due to Genetic Mutation

New Delhi, April 8 (NationPress) Researchers in the UK have uncovered that approximately one in 3,000 individuals might possess a faulty gene that considerably heightens their chances of experiencing a punctured lung.

A punctured lung, medically termed pneumothorax, occurs due to an air leak within the lung, leading to distressing lung deflation and breathlessness.

In a comprehensive study involving over 550,000 participants, scientists from the University of Cambridge identified that between one in 2,710 and one in 4,190 individuals carry a specific variant of the FLCN gene, which elevates the risk of Birt-Hogg-Dube syndrome.

This syndrome is a rare genetic condition characterized by benign skin tumors, lung cysts, and an increased likelihood of kidney cancer. However, it is important to note that not every instance of punctured lung is attributable to a defect in the FLCN gene.

The findings, published in the journal Thorax, indicated that individuals diagnosed with Birt-Hogg-Dube syndrome have a lifetime risk of a punctured lung at 37 percent, whereas this risk is lower at 28 percent for the broader group of FLCN gene mutation carriers.

Interestingly, while patients with Birt-Hogg-Dube syndrome face a 32 percent risk of developing kidney cancer, the risk for the general cohort stands at merely 1 percent.

Professor Marciniak, a researcher at the University of Cambridge, expressed surprise at the significantly lower risk of kidney cancer among carriers of the defective FLCN gene who do not exhibit the syndrome. This suggests there may be other contributing factors.

“There’s clearly something else going on,” he remarked.

The research further revealed that around one in 200 tall, slender young men in their teens or early twenties may encounter a punctured lung. For many, this condition can resolve naturally, or medical professionals may assist by removing air or fluid from the lungs while treating patients on an outpatient basis.

If a patient suffers from a punctured lung but does not fit the common profile—such as being in their forties—doctors will search for characteristic cysts in the lower lungs, which can be detected via an MRI scan. If these cysts are found, the individual is likely to have Birt-Hogg-Dube syndrome, according to the researchers.

“If someone has Birt-Hogg-Dube syndrome, it’s crucial for us to make a diagnosis, as they and their family members could also be susceptible to kidney cancer,” Professor Marciniak advised.

“The positive aspect is that a punctured lung generally occurs 10 to 20 years prior to the individual presenting symptoms of kidney cancer, allowing us to monitor them, conduct annual screenings, and if a tumor is detected, it should still be in the early stages for successful treatment,” he concluded.