Porphyrias form a heterogeneous group of disorders of haem biosynthesis. They are often missed or wrongly diagnosed in the emergency department. Acute porphyrias present most commonly as abdominal pain or as neurological or atypical psychiatric symptoms. The variety of clinical features may delay diagnosis, and unrecognized disease is potentially life-threatening. The frequency and severity of attacks vary widely. In some people, this disease remains latent throughout life, even in the presence of precipitating factors. Other people experience frequent and sometimes life-threatening attacks even in the apparent absence of exogenous precipitating factors.
Laboratory diagnosis of acute porphyria includes porphyrin precursors delta aminolevulic acid and porphobilinogen. Patients presenting with acute crises often have several-fold increases in PBG above the reference interval, usually > 10 times the upper reference limit. Hyponatremia and rabdomyolysis are relatively common manifestation accompanying acute attack.
Key words: porphyria, laboratory diagnostic, emergency room