Table 2 Clinical characteristics of patients carrying the new non well-described variants
From: New variants of alpha-1-antitrypsin: structural simulations and clinical expression
Patient ID | Sex | Age | [AAT] (mg/dL) | AAT polymers (ug/ml) | AAT polymers% | Genotype | Smoking status | Pulmonary/hepatic status | Lung function (%) | Liver enzymes (IU/L) | ELF | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FVC | FEV1 | FEV1/FVC | AST | ALT | GGT | ||||||||||
Patient 1 | Female | 49 | 78.1 | 3.65 | 0.47 | G95Afs18* – M | Former smoker | – No evidence of liver disease | 93 | 93 | 81 | 27 | 16 | – | 8.25 |
Patient 2 | Male | 40 | 76.3 | 2.52 | 0.30 | V210E + H16H – M | Never smoker | – Mild hepatic steatosis – Elevated hepatic enzymes – No evidence of lung disease | 93 | 101 | 87 | 72 | 108 | 98 | 8.67 |
Patient 3 | Female | 23 | 66.8 | 3.44 | 0.52 | V210E + H16H – M | Never smoker | – Elevated hepatic enzymes – No evidence of lung disease | 99 | 102 | 107 | 20 | 40 | 55 | 8.81 |
Patient 4 | Male | 58 | 98.4 | 5.20 | 0.53 | N247S – M | Former smoker | – Mild hepatic steatosis and hepatomegaly – Normal hepatic enzymes – No evidence of lung disease | 121 | 124 | 81 | 32 | 43 | 35 | 8.89 |
Patient 5 | Male | 45 | 19.8 | 4.08 | 2.06 | S + D341H – Z | Former smoker | – Mild COPD, Bronchiectasis and recurrent pneumonia – No evidence of liver disease | 98.6 | 81 | 62.9 | 16 | 18 | 17 | 7.62 |
Patient 6 | Male | 64 | 69.8 | 2.44 | 0,35 | S + L407F + K418I – M | Never smoker | – Severe COPD Alcoholic liver disease | 65.8 | 45.6 | 52 | 28 | 47 | 106 | NA |