Driving research, providing support and improving outcomes for patients and their families affected by rare conditions

Dr Arjan Houweling

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“The aim of the proposed project is to further define potential risks for other malignancies in addition to renal cancer in patients with Birt-Hogg-Dubé Syndrome”

Dr Arjan Houweling
Associate Professor
Amsterdam UMC, The Netherlands

Improving care for BHD Syndrome patients: clinical and genetic analysis of a unique cohort.

Research Summary

Although knowledge on the main features of BHD (skin, lungs, kidneys) has increased over the years, several aspects of the disorder that are highly relevant for diagnosis and management of BHD patients, remain incompletely understood. Furthermore, we noticed that BHD is likely to be underdiagnosed, while a diagnosis is very relevant in light of the advised renal surveillance for early detection of cancer. The aims of our project are to further identify and characterize the (individualized) risks for malignancies in patients with BHD, and to raise awareness of BHD among other physicians. 

We will evaluate the risk for others cancers by comparing the occurrence of all types of cancer between patients with BHD, their family members without BHD and national Dutch cancer statistics. 

In addition, we will give rise to a Dutch website that can be used for several purposes. One of the purposes is to provide information about BHD and our referral centre to other physicians. Other purposes include informing patients about BHD, ongoing research projects and to collect informed consent for research (which will also be helpful for the other objectives). Second, we will design an information leaflet about BHD and distribute this among all Dutch dermatologists, pulmonologists and urologists who are most likely to encounter patients with (symptoms of) BHD. We think that this is likely to result in an increase of the diagnosis of BHD, and therefore provide more patients with the possibility of renal surveillance. 

This research is embedded in a broader research program focusing on BHD and BHD-like diseases including clinical, fundamental and translational research. 

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