Lung Disease and FLNA Mutations

Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA variants. This transversal multicentric study aimed to describe the frequency of emphysema in patients carrying an FLNA variation. Patients with FLNA variations who accept the study will benefit from a chest physician's clinical examination, respiratory function tests, a cardiac ultrasound and a chest scan. The primary endpoint is to describe emphysema's frequency in patients carrying FLNA variation. The other objectives are to describe emphysema's features in these patients, the prevalence of pulmonary hypertension and to describe their lung function abnormalities. The final goal is to confirm the association between unexplained emphysema and FLNA mutation.