Lung Disease and FLNA Mutations

Prevalence and Characteristics of Lung Disease Associated With FLNA Mutations: a Multicenter Cross-sectional Study

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.

Inclusion Criteria:

• Patient with an FLNA mutation (or gene alteration)
• Patient who has given written consent to participate in the trial
• Socially insured patient
• Patient willing to comply with all study procedures and duration

Exclusion Criteria:

• Patient refused or unable to give informed consent
• Administrative reasons: inability to receive information, inability to participate in the entire study, lack of coverage by the social security system,
• Pregnant or breastfeeding women
• Patient under guardianship
• Persons deprived of liberty