Definition of Porphyria

Porphyria refers to a group of inherited disorders marked by irregularities in the body's heme production process, an essential component. This leads to increased production and elimination of chemicals known as porphyrins. Most types of porphyria impact either the skin or the nervous system, with symptoms varying from mild to severe. Patients may experience abdominal and nerve pain, a rapid heartbeat, muscle cramps and weakness, breathing difficulties, hallucinations, and even coma. Acute episodes can be triggered by certain medications like barbiturates and sulfonamides, alcohol consumption, hormonal changes during menstruation or pregnancy, dieting, fasting, and infections. Acute intermittent porphyria, a specific type, is believed to have affected members of England's House of Hanover, including King George III, whose apparent madness might have been due to porphyria attacks.

Medical Definition & Meaning