[Alpha 1-antitrypsin deficiency: the Brescia clinical study]

Area of Science:

• Pulmonology
• Genetics
• Clinical Medicine

Background:

• Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder that can lead to lung and liver disease.
• Early identification and management are essential for preventing disease progression.

Purpose of the Study:

• To identify patients with alpha 1-antitrypsin deficiency in Brescia county.
• To evaluate the prevalence and clinical manifestations of AATD.
• To assess the utility of various diagnostic tools for AATD.

Main Methods:

• A longitudinal study of 200 subjects, categorized by serum alpha 1-antitrypsin levels (severe, intermediate, normal).
• Inclusion of lung function tests, imaging (X-ray, HRCT, liver echotomography, lung scan), and blood tests.
• Investigation of expiratory flow limitation, vascular disease, urine elastin products, and nitric oxide levels.

Main Results:

• Alpha 1-antitrypsin deficiency is more prevalent in Brescia county than previously thought.
• Evaluation of liver and vascular systems proved as valuable as lung function tests in AATD assessment.
• Beneficial effects on the local system were observed.

Conclusions:

• AATD screening and comprehensive organ evaluation are vital for early detection and intervention.
• Longitudinal monitoring aids in identifying early organ damage and mitigating risk factors.
• This study highlights the importance of considering liver and vascular assessments alongside pulmonary function tests in AATD patients.