Eligibility

Patient is at least 16 years old, with elevated (greater than the upper limit of normal) urinary porphobilinogen (PBG) or aminolevulinic acid (ALA) levels

-OR-

Patient is at least 16 years old with unexplained recurrent (more than one), prolonged (>24 hours) episodes of severe, diffuse (poorly localized) abdominal pain, AND

• At least 2 of the following:

  • Red to brownish urine

  • Known or suspected family history of acute hepatic porphyria

  • Blistering skin lesions on sun-exposed areas

  • Peripheral nervous system manifestations occurring around the time of abdominal pain (i.e., motor neuropathy [paresis], sensory neuropathy [numbness, tingling, limb pain])

  • Central nervous system manifestations occurring around the time of abdominal pain (i.e., confusion, anxiety, seizures, hallucinations)

  • Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e., hyponatremia [Na < LLN], tachycardia, hypertension, nausea and vomiting, constipation)