New large BHD family cohort study

A new cohort study from a single large BHD  family in Alberta has been published by Skolnik et al. (2016). After diagnosing BHD in a patient with a history of recurrent pneumothoraces, Skolnik et al. genetically tested 68 of the patient’s direct relatives: identifying the c.59delT mutation in 36. Of these, 28 agreed to CT imaging with 22 undergoing a full clinical assessment of pulmonary function. There was no significant reduction in pulmonary function despite all of the affected family members having pulmonary cysts which were scored based on cyst size, number, and location. 41% of the group had suffered at least one pneumothorax, with an increased risk associated with larger cysts and >25% lower lung involvement. This study is the largest single family cohort reported to date allowing analysis of a uniquely homogeneous population.

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