Normal in HCP and VP, and usually deficient in AIP.
Total porphyrins (plasma)3
HCP, VP, and CEP.
PCT and HEP.
Zinc protoporphyrin (erythrocyte)
HEP mainly, but nonspecific increases common in other types of porphyrias including ADP.
<1.8 mg/g creat
HCP, VP, CEP, EPP, HEP, and PCT.
24-hour urine labs3
31–139 mg/g creat
23–130 mg/g creat
≤4.6 mg/g creat
≤1.7 mg/g creat
≤22 mg/g creat
VP, CEP, HEP, and PCT.
Fecal profile (not available)
Iron overload precipitates PCT.
Hemolytic anemia usually most severe in CEP, but can be seen to some extent with other porphyrias.
Based on the literature, some of the patterns noted were not consistently present in other studies, and overlapping trends have been reported, further signifying the need for genetic diagnosis in such cases.
1Delta-aminolevulinic Acid: +ve (acute intermittent porphyria, ALA dehydratase deficiency), −ve (congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda), and +/− (hereditary coproporphyria, variegate porphyria).
2Please note that 5–10% of affected individuals have normal PBGD activity in erythrocytes.
3Patients with hereditary forms of porphyria usually will present with profound elevations of these analytes (>5-fold) during acute episodes. Moderate elevations (<3-fold) are more often due to medications or environmental factors.
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