Study Reveals Faulty Gene May Cause Lung Collapse in 1 in 3,000 Individuals

New Delhi: A new study by researchers at the University of Cambridge has revealed that approximately one in 3,000 individuals may carry a defective gene that significantly raises their risk of suffering from a punctured lung, or pneumothorax. This condition occurs due to an air leak in the lung, causing sudden lung deflation and breathlessness.

The large-scale study, involving over 550,000 participants, identified a variant in the FLCN gene that elevates the risk of developing Birt-Hogg-Dubé (BHD) syndrome—a rare inherited disorder marked by benign skin tumors, lung cysts, and an increased likelihood of kidney cancer. While not all cases of punctured lungs are linked to this gene, those with the mutation showed a notably higher risk.

According to the findings published in the journal Thorax, individuals with a confirmed diagnosis of BHD syndrome face a 37% lifetime risk of experiencing a pneumothorax. However, even among those who carry the FLCN gene variant without a BHD diagnosis, the risk remains elevated at 28%.

Interestingly, the study also found a major difference in kidney cancer risk. While BHD patients have a 32% chance of developing kidney cancer, this risk drops to just 1% among carriers of the gene mutation who do not present with BHD syndrome. This suggests that additional genetic or environmental factors may contribute to the development of the full syndrome.

Lead researcher Professor Stefan Marciniak noted the unexpected disparity in cancer risk, suggesting that the FLCN gene alone may not fully explain the condition. “There’s clearly something else going on,” he said.

The study also highlighted that about one in 200 tall, slender males in their teens or early twenties may experience a spontaneous punctured lung, often treated successfully without hospitalization. However, if the event occurs outside of this common demographic—such as in middle-aged individuals—clinicians are advised to look for cysts in the lungs through MRI scans to identify potential cases of BHD.

Early diagnosis is critical, as it allows for regular screening and timely detection of kidney tumors, potentially enabling curative treatment.