Porphyrias

Abstract

The porphyrias are a clinically, biochemically, and genetically heterogeneous group of metabolic diseases. They result from a predominantly hereditary, rarely acquired dysfunction of one of the eight enzymes along the heme biosynthetic pathway. Although the majority of the different variants of porphyria manifest with cutaneous symptoms, other forms exclusively show acute, potentially life-threatening neurovisceral porphyria attacks. In all porphyrias, inner organ complications can occur, mainly in the liver and kidneys. Therefore, affected patients should be cared for interdisciplinarily, if possible. This article provides an up-to-date overview of the clinic, diagnostics, and therapy of the various forms of porphyria.