Imperial Collage Healthcare

Porphyrins (faeces)


Test Background
The porphyrias are inherited or acquired disorders of certain enzymes in the haem biosynthetic pathway that is responsible for the synthesis of haemoglobin, myoglobin and cytochrome. They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of their overproduction and subsequent accumulation (or their chemical precursors).


Clinical Indications

  • Hepatic porphyria: abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances; cardiac arrhythmias and tachycardia may develop as the autonomic nervous system is affected
  • Erythropoietic porphyria: photodermatitis, blisters, necrosis of the skin and gums, itching and increased hair growth


Reference Range

See report


Sample Required
Faeces protected from light, preferably collect during an attack


Sample Volume
10 g


Turnaround Time
Up to 6 weeks


Notes
Not currently performed in house; this is a referred test.

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