Essential front line investigations for patients with symptoms of porphyria
| Clinical presentation | Sample | Investigation |
|---|---|---|
| *Preferably from EDTA blood. | ||
| Acute neurovisceral attack | Fresh, random urine (10–20 ml) | Porphobilinogen |
| Skin fragility, bullae | Fresh, random urine (10–20 ml) and faeces (5–10 g) or plasma* | Total porphyrin; plasma fluorescence emission spectroscopy |
| Acute photosensitivity, without skin fragility | EDTA blood (5 ml) | Erythrocyte total porphyrin |