Diagnostic and therapeutic strategies for porphyrias.
Rochus A. Neeleman, Debby Wensink, Margreet A. E. M. Wagenmakers, G. Sophie Mijnhout, Edith C. H. Friesema, Janneke G. Langendonk
2020PubMed21 citations
Abstract
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.
Topics & Concepts
MedicinePorphyria cutanea tardaErythropoietic protoporphyriaPorphyriaAcute intermittent porphyriaTherapeutic approachIntensive care medicineDermatologyPathophysiologyDiseaseInternal medicineProtoporphyrinChemistryPorphyrinPhotochemistryPorphyrin Metabolism and DisordersMetabolism and Genetic DisordersNeonatal Health and Biochemistry