Published in

American Society of Hematology, Blood, 2023

DOI: 10.1182/blood.2022018688



Export citation

Search in Google Scholar

How I treat erythropoietic protoporphyria and X-linked protoporphyria

Journal article published in 2023 by Rebecca Karp Leaf, Amy K. Dickey ORCID
Distributing this paper is prohibited by the publisher
Distributing this paper is prohibited by the publisher

Full text: Unavailable

Red circle
Preprint: archiving forbidden
Orange circle
Postprint: archiving restricted
Red circle
Published version: archiving forbidden
Data provided by SHERPA/RoMEO


Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by reduced expression of ferrochelatase, the enzyme that catalyzes the final step in heme biosynthesis. The resultant accumulation of protoporphyrin IX leads to severe painful cutaneous photosensitivity, as well as potentially life-threatening liver disease in a small percentage of patients. X-linked protoporphyria (XLP) is similar to EPP clinically, but results from increased activity of δ-aminolevulinic acid synthase 2 (ALAS2), the first step in heme biosynthesis in the bone marrow, and also causes protoporphyrin accumulation. Although historically the management of EPP and XLP (collectively termed protoporphyria) centered around avoidance of sunlight, novel therapies have recently been approved or are in development, which will alter the therapeutic landscape for these conditions. We present three patient vignettes highlighting key treatment considerations in patients with protoporphyria including (1) approach to photosensitivity, (2) managing iron deficiency in protoporphyria, and (3) understanding hepatic failure in protoporphyria.