Objective: We sought to characterize pulmonary function in FRDA and identify disease variables that may contribute to dysfunction.

Background: FRDA is a neurodegenerative disease that causes multi-system dysfunction. Cardiac disease, leading to premature death, is well-documented in FRDA. Less well-recognized is pulmonary dysfunction. There is little data on pulmonary involvement in FRDA and the role it may play in morbidity and mortality. It is also unclear whether pulmonary function is impaired at different stages in the FRDA population.

Method: We evaluated 25 FRDA patients who presented to our multidisciplinary clinic from October 2023 through February 2024. Patients received pulmonary function tests (PFTs) and mFARS (Modified Friedreich’s Ataxia Rating Scale) scores. We also reviewed their demographic data, echocardiograms, and electrocardiograms (EKGs).

Results: The mean age in this cohort of FRDA patients was 31 years (±14), the mean age at diagnosis was 19 years (±13), the mean total repeats was 1616 (±407), and 54% of patients were non-ambulatory. The mean sitting Forced Vital Capacity (FVC) was 2.83L (±0.93), and the mean percent predicted sitting FVC was 64% (±19). The mean sitting Forced Expiratory Volume (FEV1) was 1.96L (±0.72), and the mean sitting percent predicted FEV was 55% (±20%). The mean FEV1/FVC was 70% (±13). Thirteen subjects had obstructive patterns on spirometry, and 8 had restrictive physiology. The average mFARS score in this cohort was 59 (±15), and the mean ejection fraction was 60% (±6%). Twenty patients had a history of scoliosis, although the degree was unknown. FVC sitting % predicted and FEV1 sitting % predicted correlated with age at diagnosis (p = 0.017 and p = 0.002, respectively) and correlated positively with non-ambulation (p = 0.035 for FVC% and p = 0.030 for FEV1%). FVC sitting % predicted, and FEV1 sitting % predicted inversely correlated with mFARS (p = 0.02, p = 0.023 respectively) and the total number of repeats (p = 0.029 and p = 0.032).

Conclusion: In this pilot study, pulmonary function appeared to be more compromised in FRDA patients than would be considered normal for the subjects’ age. Pulmonary function correlated significantly with disease severity, age of symptom onset, the total number of repeats, and non-ambulation. Pulmonary dysfunction is an important topic in FRDA that warrants further study.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pulmonary-dysfunction-in-friedreichs-ataxia-frda/