1 – so you can monitor your health
The most serious clinical manifestation of BHD syndrome is kidney cancer. The risk of developing kidney tumours is seven-fold greater in BHD-affected individuals (1). However, if identified and treated early enough it is not usually life-threatening. If genetic testing shows you have BHD, you should have regular kidney scans to monitor the development of any tumours so they can be removed before causing too much damage to the kidney. There is also some evidence for a moderately increased risk of developing other cancers, however it is yet to be established whether these are genuine associations with BHD (2). You will also know that you are at an increased risk of having a collapsed lung, so will be able to avoid activities that make this more likely. You will also know the symptoms to look out for and be able to get to hospital as soon as possible if your lung collapses.
It is important to realise that even if you don’t have any symptoms now, you may develop them in the future, so if any of your close relatives has BHD, you should consider getting tested.
2 – for your family
BHD is a genetic disease, so your blood-relatives are also at risk. If testing shows you have BHD, then the rest of your family should get tested to monitor the risk for kidney cancer development. Additionally, rather than analyzing the whole gene, your relatives can be tested just for the specific mutation you have, which is much faster and cheaper.
3 – for a correct diagnosis
If testing shows that you don’t have BHD, your doctor will be able to explore other causes of your symptoms. Getting the correct diagnosis is very important in order to manage your health, and – if the condition is genetic – your family’s health.
Some of the diseases that cause similar symptoms to BHD are listed on the following pages:
1. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax pneurnothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev [Internet]. 2002 Apr 1 [cited 2021 Apr 27];11(4):393–400. Available from: http://intl-cebp.aacrjournals.org/cgi/content/full/11/4/393
2. Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC. Birt‐Hogg‐Dubé syndrome: an underdiagnosed genetic tumor syndrome [Internet]. Vol. 16, JDDG – Journal of the German Society of Dermatology. Wiley-VCH Verlag; 2018 [cited 2021 May 19]. p. 278–84. Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/ddg.13457
Publication date: December 2014
Review date: May 2021