A new study has discovered that 1 in every 3,000 people may be at risk of a punctured lung due to a faulty gene.
Punctured lung – known as pneumothorax – is caused by an air leak in the lung, resulting in painful lung deflation and shortness of breath.
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In a study, encompassing more than 550,000 people, researchers from the University of Cambridge discovered that between one in 2,710 and one in 4,190 individuals carry a particular variant of gene FLCN that raises the risk of Birt-Hogg-Dube syndrome. This syndrome can cause benign skin tumors, lung cysts, and an increased risk of kidney cancer.
Among people formally diagnosed with the syndrome, the lifetime risk of a punctured lung was 37%. But in the broader group of carriers, the risk dropped to 28%. More strikingly, while patients with Birt-Hogg-Dube syndrome have 32 per cent of developing kidney cancer, in the wider cohort this was only 1 per cent.
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Professor Marciniak, a researcher at the University of Cambridge an associated with the study said: “Even though we’ve always thought of Birt-Hogg-Dubé syndrome as being caused by a single faulty gene, there’s clearly something else going on. The Birt-Hogg-Dubé patients that we’ve been caring for and studying for the past couple of decades are not representative of when this gene is broken in the wider population. There must be something else about their genetic background that’s interacting with the gene to cause the additional symptoms.”
