Frequency and characteristics of emphysema in adults with FLNA gene variations: a single-center preliminary study.

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Introduction: The X-linked FLNA gene encodes for filamin A. FLNA mutations lead to various congenital malformations. Pulmonary manifestations were reported in early age. In adults, few cases of emphysema were published. We aimed to assess the frequency and characteristics of emphysema in FLNA mutated adults. Method We conducted single-center preliminary study. Adults with FLNA variation followed in Lille University Hospital were identified among BaMaRa®, the French rare disease database. Participants attended medical examination, non-contrast chest CT-scan and pulmonary function tests (PFT). We collected socio-demographic data, medical history, tobacco smoking status, occupational and domestic exposures. When emphysema was identified, the PTPN6 gene was sequenced and alpha1antitrypsin deficiency searched. The primary objective was to assess the frequency of emphysema. Secondary objectives were to evaluate: emphysema type, distribution and extension; lung function in case of emphysema; and the frequency of unexplained emphysema. Results: Among 29 patients identified, 10 were included. Seven (70.0%) presented emphysema among which 4 (57.1% of emphysema cases) had unexplained emphysema. It was most often centrilobular and located in upper lobes with a median volume of 8.8% (IQR: 3.0-18.0%) of the total lung volume. PFT revealed airflow limitation (n=3), reduced DLCO (n=5) and small airway disease on IOS (n=5). Conclusion: These preliminary results suggest that adults with FLNA variations frequently develop emphysema, allowing for a larger study to be considered and encourage focusing on measures for lung protection and paying attention to respiratory symptoms in this condition.

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