variegate porphyria

Variegate porphyria is a type of porphyria, a group of diseases characterized by the overproduction and excretion of porphyrins or their precursors. Porphyrins are components of heme, the pigment in hemoglobin that carries oxygen in red blood cells.12

In variegate porphyria, individuals experience chronic skin lesions that heal slowly, along with acute attacks of abdominal pain and nervous system symptoms. This condition is inherited as a dominant trait and is particularly common in the white population of South Africa.1

Porphyrias are disorders of heme biosynthesis. Those affecting red blood cells often cause photosensitivity and skin rashes, while liver-related porphyrias are more commonly associated with gastrointestinal issues. Many patients with enzyme defects in heme biosynthesis remain asymptomatic. Treatment for porphyria typically focuses on symptom management and preventing skin injury and attacks.21