Normal in HCP and VP, and usually deficient in AIP.
Total porphyrins (plasma)3
22.6
8.2
1.0–5.6 mcg/L
Coproporphyrins
7.3
1.8
≤0.8 mcg/L
HCP, VP, and CEP.
Heptacarboxyporphyrins
1.4
0.6
≤0.2 mcg/L
PCT and HEP.
Hexacarboxyporphyrins
ND
ND
≤0.3 mcg/L
Pentacarboxyporphyrins
0.9
ND
≤0.4 mcg/L
PCT, VP.
Protoporphyrins
8.7
2.8
0.4–4.8 mcg/L
EPP, VP.
Uroporphyrins
4.3
3.0
≤0.2 mcg/L
PCT, VP.
Zinc protoporphyrin (erythrocyte)
108
<100 mcg/dL
HEP mainly, but nonspecific increases common in other types of porphyrias including ADP.
Urine
Delta-aminolevulinic acid1
0.3
0.5
<1.8 mg/g creat
HCP, VP, CEP, EPP, HEP, and PCT.
24-hour urine labs3
Total porphyrins
55.2
31–139 mg/g creat
Coproporphyrins
10.7
23–130 mg/g creat
Heptaporphyrin
3.2
≤4.6 mg/g creat
Hexaporphyrins
ND
Undetectable
Pentaporphyrin
ND
≤1.7 mg/g creat
Uroporphyrin
41.3
≤22 mg/g creat
VP, CEP, HEP, and PCT.
Fecal profile (not available)
Other labs
Ferritin
>1500
10–282 ng/mL
Iron overload precipitates PCT.
Iron sats
91–125%
25–50%
LDH
2512
2070
<171 IU/L
Hemolytic anemia usually most severe in CEP, but can be seen to some extent with other porphyrias.
Haptoglobin
<5.8
<5.8
36–195 mg/dL
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.
