Table 2 Clinical characteristics of six PiFZ heterozygotes identified in the UK
From: The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote
Clinical parameter | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 |
|---|---|---|---|---|---|---|
Age (years) | 59 | 47 | 70 | 74 | 76 | 53 |
Sex | M | M | F | M | M | M |
A1AT concentration (μM) | 18.7 | 21.6 | 24.0 | 11.8 | 18.3 | 19.7 |
Smoking history (pack years) | 24 | 24 | 23 | 19 | 8 | 40 |
BMI (kg/m2) | 23 | 33 | 19 | 29 | 29 | 20 |
FEV1 (% predicted) | 29 | 110 | 33 | 99 | 32 | 38 |
FEV1/FVC ratio | 0.22 | 0.77 | 0.32 | 0.55 | 0.31 | 0.21 |
KCO (% predicted) | 26 | 100 | 57 | 63 | 87 | 40 |
PO2 on air (kPa, capillary blood gas) | 7.3 | 8.8 | 7.8 | 9.3 | 7.8 | 8.8 |
Average number of exacerbations per year | 2 | 0 | 2 | 2 | 4 | 1 |
SGRQ (total score) | 63 | 20 | 75 | 42 | 68 | 26 |
CT scan appearance | Upper zone emphysema | Normal | Diffuse emphysema in all zones | Basal emphysema | Basal emphysema & bronchiectasis | Diffuse emphysema, upper zone predominant |