What is porphyria? Porphyria is a set of seven rare disorders defined by chronic skin symptoms (cutaneous porphyrias) or episodic acute illness attacks (acute porphyria). Figure 1. A brief about porphyria Clinical features Figure 2.
Signs and symptoms of porphyria Diagnosis The considerations for a preliminary diagnosis are: Consider porphyria in patients who have unexplained stomach discomfort after an initial workup has ruled out usual explanations such as appendicitis, cholecystitis, pancreatitis. Other indicators include the use of potentially porphyrinogenic medications such as sulfonamides, barbiturates, rifampin, or metoclopramide, as well as premenstrual symptoms in women. In the face of nonspecific symptoms, a high index of suspicion is critical for diagnosis. Porphyria in the family, female sex, beginning during the luteal phase of the menstrual cycle, or recent use of a…
