Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge

Abstract

The porphyrias comprise a group of fascinating disorders resulting from predominantly inherited as well as acquired deficiencies of one of the eight enzymes along the pathway of heme biosynthesis. On the basis of clinical aspects, the different types of porphyrias can be classified in acute and non-acute forms. However, an exact classification is often difficult since the porphyrias might reveal unspecific clinical symptoms and/or overlapping biochemical features. In particular, this is true for the acute porphyrias which can present with life-threatening acute neurovisceral attacks that require immediate medical intervention. Due to the multiple facets of these disorders, the diagnosis and treatment of the acute porphyrias should always imply a close interdisciplinary collaboration to serve patients and their families most effectively.