Although there are at least eight different types of porphyria, I will limit discussion to the ones most likely to be diagnostic considerations in an internal medicine setting. AIP is manifested by neurovisceral symptoms, PCT by cutaneous symptoms, and VP and HC by both. The abdomen pain is severe and lasts for several days. The attacks may be accompanied by a moderate leukocytosis.
Most patients are free of symptoms between attacks.
The cutaneous manifestations are characterized by bullae formation in sun exposed areas, fragile skin, and hypertrichosis. The key to diagnosis is suspicion of the disease, but this must be tempered by the fact that these are rare diseases. These substances are always present if the patient is having an acute neurovisceral attack. Most patients with latent AIP and some with latent HC and VP will have elevated levels. If the urine screen is negative, then one can safely eliminate porphyria as a cause of acute neurovisceral symptoms.