Issue: 2020 > Juli > review

Diagnostic and therapeutic strategies for porphyrias

R.A. Neeleman, D. Wensink, M.A.E.M. Wagenmakers, G.S. Mijnhout, E.C.H. Friesema, J.G. Langendonk
AbstractFull textPDF


Porphyrias are rare metabolic disorders. Lack of awareness and knowledge about the clinical features of porphyrias results in diagnostic and therapeutic delays for many patients. Delays in diagnosing and treating porphyrias can result in severe, progressive morbidity (and mortality) and psychological distress for patients. This review discusses the pathophysiology, diagnosis, treatment, and follow-up of the most prevalent porphyrias: acute intermittent porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.