Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.
The porphyrias are a group of uncommon metabolic diseases caused by enzyme deficiencies within heme biosynthesis that lead to neurotoxic or phototoxic heme precursor accumulation. There are four acute porphyrias characterized by neuropsychiatric symptoms: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolevulinic acid dehydratase deficiency porphyria. Treatment includes elimination of any porphyrogenic factor and symptomatic treatment. Carbohydrate and intravenous heme administration constitute specific therapies in the disorders' acute phase. The mainstay treatment in the cutaneous porphyrias is avoidance of sunlight exposure. In porphyria cutanea tarda and the two acute porphyrias with skin manifestations, variegate porphyria and hereditary coproporphyria, care of the vulnerable skin is important. In porphyria cutanea tarda, specific treatment is accomplished by a series of phlebotomies and/or by low-dose chloroquine administration. In erythropoietic protoporphyria, light-protective beta-carotene is prescribed.
Harper
Pauline
P
Pauline Harper, MD, PhD Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm SE-141 86, Sweden. pauline.harper@karolinska.se.
Wahlin
Staffan
S