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. The porphyrias are typically classified as erythropoietic or hepatic based upon the primary site of the enzyme defect. In addition, hepatic porphyrias can be further classified as chronic or acute, based on their clinical presentation. The primary acute hepatic porphyrias: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP), are associated with neurovisceral symptoms, which typically onset during puberty or later. Common symptoms include severe abdominal pain, peripheral neuropathy, and psychiatric symptoms. Crises may be precipitated by a broad range of medications (including barbiturates and sulfa drugs), alcohol, infection, starvation, heavy metals, and hormonal changes. Photosensitivity is not associated with AIP, but may be present in HCP and VP. Cutaneous photosensitivity is associated with the chronic hepatic porphyrias: porphyria cutanea tarda (PCT) and the erythropoietic porphyrias; erythropoietic protoporphyria (EPP), X-linked dominant protoporphyria (XLDPP), and congenital erythropoietic porphyria (CEP). Although genetic in nature, environmental factors may exacerbate symptoms, significantly impacting the severity and course of disease. CEP is an erythropoietic porphyria caused by uroporphyrinogen III synthase deficiency. Symptoms typically present in early infancy with red-brown staining of diapers, severe cutaneous photosensitivity with fluid-filled bullae and vesicles. Other common symptoms may include thickening of the skin, hypo- and hyperpigmentation, hypertrichosis, cutaneous scarring, and deformities of the fingers, eyelids, lips, nose, and ears. A few milder adult-onset cases have been documented as well as cases that are secondary to myeloid malignancies. 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. Increased fecal porphyrin excretions are observed most commonly in symptomatic patients with CEP, PCT, HCP, and VP. In quiescent phases, as well as prior to puberty, fecal porphyrin excretion may be within normal limits. Patients with AIP may have elevated fecal porphyrin levels during severe attacks. EPP and XLDPP patients may have elevated protoporphyrin levels, however, these disorders cannot be diagnosed by fecal analysis alone.
No special preparation is needed for Porphyrin 24 Hour Stool. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Porphyrin 24 Hour Stool. Your doctor depending on your condition will give specific instructions.
|All age groups
|< 120 mcg/24 hrs (uroporphyrin I) and < 1500 mcg/24hrs (protoporhyrin)