The hidden burden of AATD: High prevalence of emotional distress and the 'care gap' in mental health support.
:Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder mainly affecting the lungs and liver, but its psychological, functional, and relational burden remains insufficiently characterizedcharacterised.
To describe emotional distress, health-related quality of life, interpersonal and sexual difficulties, and daily functional limitations in individuals with AATD.
We conducted a cross-sectional online survey in Italy between October and December 2025 among individuals with AATD. Socio-demographic, clinical, and psychosocial data were collected using an ad hoc questionnaire, the Hospital Anxiety and Depression Scale (HADS), and the 12-item Short Form Health Survey (SF-12). HADS subscales were reconstructed from item-level responses, applying reverse scoring where appropriate.
The study included 130 participants (mean age 56.3 ± 13.5 years; 53.8% female). Pulmonary involvement was the most frequent manifestation (68.5%). Disease-related limitations were reported in daily functioning by 57.7% and in social participation by 53.1%. Clinically significant symptoms were present in 46.2% for anxiety and 17.7% for depression. The SF-12-derived ad hoc unweighted physical and mental descriptive composites were 56.68 ± 27.47 and 54.53 ± 26.91. Women reported higher anxiety and poorer mental-composite scores, while participants receiving augmentation therapy showed worse depressive and perceived-health burden. Sexual-life changes were reported by 37/96 partnered participants (38.5%). Fifteen of 128 respondents (11.7%; two preferred not to answer) reported current psychological support. In exploratory covariate-adjusted models, functional and perceived-health correlates remained associated with clinically significant anxiety.
In this cross-sectional survey, respondents with AATD reported substantial emotional, functional, and relational burden, while few were receiving psychological support. The self-selected sample and absence of a non-AATD comparison group preclude causal or disease-specific inference; the findings support evaluation of brief psychological screening and defined referral pathways in multidisciplinary AATD care.
To describe emotional distress, health-related quality of life, interpersonal and sexual difficulties, and daily functional limitations in individuals with AATD.
We conducted a cross-sectional online survey in Italy between October and December 2025 among individuals with AATD. Socio-demographic, clinical, and psychosocial data were collected using an ad hoc questionnaire, the Hospital Anxiety and Depression Scale (HADS), and the 12-item Short Form Health Survey (SF-12). HADS subscales were reconstructed from item-level responses, applying reverse scoring where appropriate.
The study included 130 participants (mean age 56.3 ± 13.5 years; 53.8% female). Pulmonary involvement was the most frequent manifestation (68.5%). Disease-related limitations were reported in daily functioning by 57.7% and in social participation by 53.1%. Clinically significant symptoms were present in 46.2% for anxiety and 17.7% for depression. The SF-12-derived ad hoc unweighted physical and mental descriptive composites were 56.68 ± 27.47 and 54.53 ± 26.91. Women reported higher anxiety and poorer mental-composite scores, while participants receiving augmentation therapy showed worse depressive and perceived-health burden. Sexual-life changes were reported by 37/96 partnered participants (38.5%). Fifteen of 128 respondents (11.7%; two preferred not to answer) reported current psychological support. In exploratory covariate-adjusted models, functional and perceived-health correlates remained associated with clinically significant anxiety.
In this cross-sectional survey, respondents with AATD reported substantial emotional, functional, and relational burden, while few were receiving psychological support. The self-selected sample and absence of a non-AATD comparison group preclude causal or disease-specific inference; the findings support evaluation of brief psychological screening and defined referral pathways in multidisciplinary AATD care.
Authors
Manzo Manzo, Fiorentino Fiorentino, Gaeta Gaeta, Coppola Coppola, Di Spirito Di Spirito, Lanza Lanza, Mirizzi Mirizzi, Ferrarotti Ferrarotti, Gatta Gatta, Annunziata Annunziata
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