Case Reports in Hematology / 2013 / Article / Tab 2

Case Report

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Table 2

Biochemical abnormalities noted in our patient [1, 79].

LabsLevelNormal rangeUsually consistent with++

Plasma
 Porphobilinogen deaminase  (PBGD activity erythrocyte)216.1 <6.0 nmol/L/s (diminished) Normal in HCP and VP, and usually deficient in AIP.
 Total porphyrins (plasma)322.6 8.2 1.0–5.6 mcg/L
Coproporphyrins 7.3 1.8 ≤0.8 mcg/LHCP, VP, and CEP.
Heptacarboxyporphyrins 1.4 0.6 ≤0.2 mcg/LPCT and HEP.
 HexacarboxyporphyrinsNDND≤0.3 mcg/L
Pentacarboxyporphyrins 0.9 ND ≤0.4 mcg/LPCT, VP.
 Protoporphyrins 8.7 2.8 0.4–4.8 mcg/LEPP, VP.
 Uroporphyrins 4.3 3.0 ≤0.2 mcg/LPCT, VP.
 Zinc protoporphyrin (erythrocyte)108 <100 mcg/dLHEP mainly, but nonspecific increases common in other types of porphyrias including ADP.
Urine
 Delta-aminolevulinic acid10.30.5<1.8 mg/g creatHCP, VP, CEP, EPP, HEP, and PCT.
24-hour urine labs3
 Total porphyrins55.2 31–139 mg/g creat
 Coproporphyrins10.7 23–130 mg/g creat
 Heptaporphyrin3.2 ≤4.6 mg/g creat
 HexaporphyrinsND Undetectable
 PentaporphyrinND ≤1.7 mg/g creat
Uroporphyrin 41.3 ≤22 mg/g creat VP, CEP, HEP, and PCT.
Fecal profile (not available)
Other labs
 Ferritin>150010–282 ng/mLIron overload precipitates PCT.
 Iron sats91–125%25–50%
 LDH2512 2070 <171 IU/LHemolytic 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.

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