How common is BHD?

BHD is a rare inherited disorder that affects the lungs, skin, and kidneys. The lungs of people with BHD contain cysts that can burst to cause a lung collapse (pneumothorax). It may be the first sign of BHD. People with BHD are also at an increased risk of kidney cancer later in life, but early diagnosis allows curative treatment. However, owing to its rarity the disorder is often overlooked. For example, when someone has a lung collapse in early adulthood, BHD tends not to be considered. This means an opportunity to start life-saving screening for kidney cancer is lost.

NHS England has created a service dedicated to improving the care of people with BHD and other genetic disorders that cause lung collapses. It is called the Familial Pneumothorax Rare Disease Collaborative Network. Although BHD is the most common cause of inherited lung collapses, the true prevalence of BHD in the UK is unknown.

We are funding a study which aims to find out how common BHD is. This research team will analyse two large UK databases of DNA sequences. The 100,000 Genomes Project has data from NHS patients who volunteered to have their DNA sequenced for research. The UK Biobank recruited healthy volunteers for genetic and other medical studies. By analysing hundreds of thousands of DNA sequences stored in these two databases, the team will generate the most accurate estimate of BHD in the UK to date. This will help shape medical care for people with this rare disease.

By understanding the true prevalence of Birt-Hogg-Dubé in the British population we’re better able to design services to meet their needs”.  - Professor Stefan Marciniak, University of Cambridge, UK