The porphyrias

In summary, the porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The signs and symptoms characteristic of porphyria are primarily neurovisceral and photocutaneous. Although encounters with these patients are rare, emergency physicians should simply consider porphyria in their differential diagnosis in particular patients to avoid unnecessary morbidity and mortality. These particularities include patients with longstanding histories of undiagnosed abdominal pain, autonomic dysfunction, musculoskeletal complaints, and photosensitivity.