Is there a relationship between abdominal aortic aneurysms and alpha1-antitrypsin deficiency (PiZ)?

Area of Science:

• Vascular Biology
• Genetics
• Pulmonology

Background:

• Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that can lead to lung and liver disease.
• Abdominal aortic aneurysm (AAA) is a serious condition involving the enlargement of the aorta.
• The potential association between AATD and AAA requires further investigation.

Purpose of the Study:

• To determine if alpha-1 antitrypsin deficiency (PiZ) is more frequent in patients with abdominal aortic aneurysm (AAA).
• To compare clinical characteristics, including aneurysmal stiffness, between AAA patients with and without alpha-1 antitrypsin deficiency.

Main Methods:

• 102 AAA patients were screened for alpha-1 antitrypsin deficiency (PiZ) using ELISA and isoelectric focusing.
• Aneurysmal diameter and stiffness were measured using echotracking sonography.
• Clinical data, including comorbidities and risk factors, were collected.

Main Results:

• The frequency of PiZ carriers in AAA patients (6.8%) was similar to the general population (4.7%).
• No significant differences were observed in AAA size, stiffness, or associated risk factors between PiZ carriers and non-carriers.
• Ischemic heart disease was less frequent in male PiZ carriers with AAA compared to non-carriers.

Conclusions:

• Alpha-1 antitrypsin deficiency (PiZ) is not a risk factor for abdominal aortic aneurysm.
• AAA patients with PiZ deficiency do not exhibit distinct clinical features, except for a lower incidence of ischemic heart disease.