The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. The patterns of porphyrin accumulation in erythrocytes and plasma and excretion of the heme precursors in urine and feces allow for the detection and differentiation of the porphyrias. Testing erythrocyte porphyrin level is most informative for patients with a clinical suspicion of erythropoietic protoporphyria (EPP) or X-linked dominant protoporphyria (XLDPP). Clinical presentation of EPP and XLDPP is identical with onset of symptoms typically occurring in childhood. Cutaneous photosensitivity in sun-exposed areas of the skin generally worsens in the spring and summer months. Common symptoms may include itching, edema, erythema, stinging or burning sensations, and occasionally scarring of the skin in sun-exposed areas. EPP is caused by diminished ferrochelatase activity resulting in significantly increased free protoporphyrin levels in erythrocytes, plasma, and feces. Protoporphyrin fraction is the main component of erythrocyte porphyrins. When total erythrocyte porphyrins are elevated, fractionation and quantitation of zinc-complexed and noncomplexed (free) protoporphyrin is necessary to differentiate the inherited porphyrias from other causes of elevated porphyrin levels. Other possible causes of elevated erythrocyte zinc-complexed protoporphyrin may include: -Iron-deficiency anemia, the most common cause, -Chronic intoxication by heavy metals (primarily lead) or various organic chemicals, -Congenital erythropoietic porphyria (CEP), a rare autosomal recessive porphyria caused by deficient uroporphyrinogen III synthase, -Hepatoerythropoietic porphyria, a rare autosomal recessive porphyria caused by deficient uroporphyrinogen decarboxylase. Typically, the workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous).
No special preparation is needed for Porphyrin. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Porphyrin. Your doctor depending on your condition will give specific instructions.
|UNISEX||All age groups||16 - 60microgram/dl|