When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion
https://doi.org/10.4081/dr.2023.9784
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun exposure. The patient's medical history revealed a partial deletion of the long arm of chromosome 18. Based on the patient's medical background and clinical symptoms, we conducted various tests, including measuring total erythrocyte protoporphyrin levels and evaluating the fluorometric emission peak of plasma porphyrins using a spectrofluorometer. Additionally, a genetic analysis revealed a complete deletion of the FECH gene on one allele and the presence of an intronic variant on the other allele, identified as c.315–48T>C (IVS3–48T>C) and classified as a susceptibility polymorphism. In June 2022, the patient underwent an Afamelanotide implant, which resulted in an improvement in his clinical condition.
Balwani M. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019 Nov;128(3):298-303. doi: 10.1016/j.ymgme.2019.01.020. Epub 2019 Jan 24. PMID: 30704898; PMCID: PMC6656624. DOI: https://doi.org/10.1016/j.ymgme.2019.01.020
Snast I, Kaftory R, Sherman S, Edel Y, Hodak E, Levi A, Lapidoth M. Acquired erythropoietic protoporphyria: A systematic review of the literature. Photodermatol Photoimmunol Photomed. 2020 Jan;36(1):29-33. doi: 10.1111/phpp.12501. Epub 2019 Aug 21. PMID: 31374130. DOI: https://doi.org/10.1111/phpp.12501
Ventura P, Brancaleoni V, Di Pierro E, Graziadei G, Macrì A, Carmine Guida C, Nicolli A, Rossi MT, Granata F, Fiorentino V, Fustinoni S, Sala R, Pinton PC, Trevisan A, Marchini S, Cuoghi C, Marcacci M, Corradini E, Sorge F, Aurizi C, Savino MG, Cappellini MD, Pietrangelo A. Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy. Eur J Dermatol. 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. PMID: 33021473. DOI: https://doi.org/10.1684/ejd.2020.3880
Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis. 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342; PMCID: PMC2747912. DOI: https://doi.org/10.1186/1750-1172-4-19
Magness ST, Tugores A, Christensen SR, Wagner-Mcpherson C, Evans GA, Naylor EW, Brenner DA. Deletion of the ferrochelatase gene in a patient with protoporphyria. Hum Mol Genet. 1994 Sep;3(9):1695-7. doi: 10.1093/hmg/3.9.1695. PMID: 7833934. DOI: https://doi.org/10.1093/hmg/3.9.1695
Kim ES, Garnock-Jones KP. Afamelanotide: A Review in Erythropoietic Protoporphyria. Am J Clin Dermatol. 2016 Apr;17(2):179-85. doi: 10.1007/s40257-016-0184-6. PMID: 26979527. DOI: https://doi.org/10.1007/s40257-016-0184-6
Wensink D, Wagenmakers MAEM, Langendonk JG. Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria. Expert Rev Clin Pharmacol. 2021 Feb;14(2):151-160. doi: 10.1080/17512433.2021.1879638. PMID: 33507118. DOI: https://doi.org/10.1080/17512433.2021.1879638
Copyright (c) 2023 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.
Downloads
Citations
