Porphyria

Porphyria describes several disorders of heme production, not one presentation. At the bedside, separate an acute hepatic porphyria (AHP) attack—neurovisceral illness from excess δ-aminolevulinic acid (ALA) and porphobilinogen (PBG)—from a cutaneous porphyria, in which light-exposed skin is injured. A patient with abdominal pain, autonomic findings, hyponatremia or neuropathy needs urgent AHP assessment even when the abdomen is soft; a patient with immediate light-triggered burning or blistering needs a different workup. The distinction determines the specimen, treatment and medication-safety checks. In Canada, an NP works within provincial or territorial prescribing and ordering authority and should involve an experienced porphyria, metabolic, gastroenterology or hematology service for confirmation and recurrent disease.