Important points:

• Patients with alpha-1 antitrypsin deficiency (AATD) faced an increased risk of cardiovascular disease based on aortic pulse wave velocity.
• In AATD, this measurement was associated with proteinase 3 activity.

Aortic stiffness, a known risk factor for cardiovascular disease, was elevated in patients with alpha-1 antitrypsin deficiency and those with COPD or healthy controls, study results show..

Louise E. Crowley

“We found that traditional cardiovascular disease risk factors, such as smoking, do not explain all the risk of cardiovascular disease in patients with alpha-1 antitrypsin deficiency.” Louise E. Crowley,MBChB, a clinical researcher and postdoctoral fellow at the University of Birmingham told Helio. “Daily clinicians should be cautious when using only assessment tools such as QRISK2 in patients with alpha-1 antitrypsin deficiency, as this may underestimate the risk of cardiovascular disease. It suggests something.”

In an observational study published in Orphanet Rare Disease JournalCrowley et al. compared 228 patients with alpha-1 antitrypsin deficiency (AATD) (median age 58 years) to 50 non-AATD COPD patients (median age 71 years) and 51 healthy controls/controls (median age 58 years). (68 years old). ) to determine whether this patient population is at increased risk for cardiovascular disease (CVD).

In this study cohort, more AATD patients than COPD patients and healthy controls reported never smoking (25.4% vs. 0% vs. 17.6%). These patients had the lowest proportion of current smokers (2.2% vs. 20% vs. 7.8%).

The use of aortic pulse wave velocity (aPWV), a measure of aortic stiffness, and the QRISK2 score (age, gender, ethnicity, postal code, smoking status, BMI, presence of major CVD-related comorbidities, and Relative (including 1 degree CVD) researchers can now measure an individual’s CVD risk. QRISK2 scores were not obtained for 17 patients with AATD, 9 patients with COPD, and 4 controls who were found to have previously been diagnosed with her CVD.

According to the researchers, both CVD risk measurements were “highly concordant” between controls and COPD patients, but 45% of AATD patients had discordant measurements.

Researchers found that between AATD patients and COPD/healthy controls, after adjusting for age and smoking history, AATD patients had the highest measured aPWV. These patients also had the lowest QRISK2 scores in the aPWV-adjusted model.

“This discrepancy really highlights that, apart from traditional cardiovascular risk factors, there must be something that increases vascular stiffness in AATD patients,” Dr. Crowley told Healio. . “Here we proposed that the enzyme proteinase 3 may be associated with heart and lung disease in his AATD.”

The researchers also investigated how CVD risk in patients with AATD was associated with lung physiology and neutrophil proteinase activity in a model that took into account age, smoking status, and traditional CVD risk factors (QRISK2 score). researched.

In this model, elevated aPWV was significantly associated with three factors in AATD patients: impaired pulmonary physiology (percent predicted carbon monoxide transfer coefficient, and FEV);₁ percent predicted), emphysema on CT scan, and proteinase 3 activity.

Researchers did not find these associations when evaluating QRISK2 in AATD.

During 4 years of follow-up, new CVD diagnoses were discovered in 23 patients with AATD, 18 patients with COPD, and 7 healthy controls. In each of the three patient groups, patients who developed CVD had higher aPWV and QRISK2 scores at baseline than patients who did not develop her CVD.

Among new CVD patients, the groups with the lowest median QRISK2 baseline scores were the COPD group (31.8) and the healthy control group (33.9) compared to 19.4 in the AATD group.

reference: