1st order laboratory parameters – obligatory laboratory tests.
- Detection of specific porphyria precursor stages in urine – qualitative urine test for porphobilinogen (PBG); if positive, quantitative measurements of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA).
- Acute intermittent porphyria (AIP):
- Urine staining in air? If red → evidence of acute porphyria, before and during an attack.
- Measurement of porphobilinogen deaminase (PBG-D) and delta-aminolevulinic acid deaminase (ALA-D) activity in erythrocytes (red blood cells).
- Ehrlich aldehyde assay: add one drop of urine to 1 ml of Ehrlich reagent → if a red coloration occurs, AIP is present.
- Analysis of fecal porphyrins
- Porphyria cutanea tarda (PCT):
- Erythropoietic porphyria (EPP):
- Acute intermittent porphyria (AIP):
- Electrolytes – calcium, chloride, potassium, magnesium, sodium, phosphate.
- Laboratory parameters to exclude acute organic disorders.
Notes:
- Acute porphyrias show elevated levels only during attacks. In this case, PBG and ALA levels are at least 5 times higher than normal.
- If necessary, determine the type of porphyria by genetic analysis.
- A genetic test can determine the risk of disease for relatives and offspring. Genetic counseling centers help here.