|Title:||Clinical characteristics of Birt-Hogg-Dube Syndrome in an Irish cohort|
|Author(s):||O.M. O'Carroll B. Gaffney J. Cullen D.J. Murphy J.D. Dodd A. Fabre M.P. Keane C. McCarthy|
|Institution:||Department of Respiratory Medicine, St. Vincent's University Hospital, Elm Park, Dublin 4|
|Poster:||Click to view poster|
|Category:||General Respiratory and Sleep|
|Abstract:||Birt-Hogg-Dube Syndrome (BHD) is a rare autosomal dominant disorder resulting from mutations in the FLCN gene. It is characterised by pulmonary cysts, fibrofolliculomas of the skin, and increased risk of spontaneous pneumothorax and renal malignancy. The clinical presentation of this disease is variable, even within families. |
The clinical and genetic characteristics of a cohort of patients attending a single referral centre in Ireland were assessed.
16 patients, 11 of which came from 3 families, were included for analysis. 10 patients were female (62.5%). Median age was 50.5 years (range:19-86). 2 were current smokers (12.5%), 4 ex-smokers (25%), and 10 never smokers (62.5%). All had FLCN mutations confirmed, the most common mutation was C.17_21delCTCTC. 9 patients (56.25%) had had at least one spontaneous pneumothorax and one patient had suffered spontaneous pneumomediastinum. Most patients had pneumothorax aged 30-35. 8 patients (50%) had fibrofolliculomas. No patient had any renal tumour.
BHD is a rare condition which can result in variable clinical presentation, even in families with the same genetic mutation. Studies such as this add to the understanding of the complexity of this rare disease. We aim to define the natural history in a larger cohort.