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Protoporphyria, erythropoietic, 2(EPP2)

MedGen UID:
1645733
•Concept ID:
C4693947
•
Disease or Syndrome
Synonym: EPP2
 
Gene (location): CLPX (15q22.31)
 
Monarch Initiative: MONDO:0060729
OMIM®: 618015

Definition

Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017) For discussion of genetic heterogeneity of EPP, see EPP1 (177000). [from OMIM]

Clinical features

From HPO
Iron deficiency anemia
MedGen UID:
57668
•Concept ID:
C0162316
•
Disease or Syndrome
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
See: Feature record | Search on this feature
Increased erythrocyte protoporphyrin concentration
MedGen UID:
868608
•Concept ID:
C4023007
•
Finding
Concentration of protoporphyrins in erythrocytes above the upper limit of normal.
See: Feature record | Search on this feature
Cutaneous photosensitivity
MedGen UID:
87601
•Concept ID:
C0349506
•
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Management of Patients With Erythropoietic Protoporphyria-Related Progressive Liver Disease.
Ardalan ZS, Chandran S, Vasudevan A, Angus PW, Grigg A, He S, Macdonald GA, Strasser SI, Tate CJ, Kennedy GA, Testro AG, Gow PJ
Liver Transpl 2019 Nov;25(11):1620-1633. Epub 2019 Sep 30 doi: 10.1002/lt.25632. PMID: 31469227
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M
Mol Genet Metab 2019 Nov;128(3):298-303. Epub 2019 Jan 24 doi: 10.1016/j.ymgme.2019.01.020. PMID: 30704898Free PMC Article
Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children.
Tu JH, Sheu SL, Teng JM
JAMA Dermatol 2016 Nov 1;152(11):1258-1261. doi: 10.1001/jamadermatol.2016.2303. PMID: 27410690

Recent clinical studies

Etiology

Dersimelagon in Erythropoietic Protoporphyrias.
Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators
N Engl J Med 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. PMID: 37043653
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M
Mol Genet Metab 2019 Nov;128(3):298-303. Epub 2019 Jan 24 doi: 10.1016/j.ymgme.2019.01.020. PMID: 30704898Free PMC Article
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC
Orphanet J Rare Dis 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342Free PMC Article

Diagnosis

Clinical Guide and Update on Porphyrias.
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M
Mol Genet Metab 2019 Nov;128(3):298-303. Epub 2019 Jan 24 doi: 10.1016/j.ymgme.2019.01.020. PMID: 30704898Free PMC Article
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC
Orphanet J Rare Dis 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342Free PMC Article

Therapy

Dersimelagon in Erythropoietic Protoporphyrias.
Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators
N Engl J Med 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. PMID: 37043653
Experimental and approved treatments for skin photosensitivity in individuals with erythropoietic protoporphyria or X-linked protoporphyria: A systematic review.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC
Biomed Pharmacother 2023 Feb;158:114132. Epub 2022 Dec 14 doi: 10.1016/j.biopha.2022.114132. PMID: 36525819
Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria.
Wensink D, Wagenmakers MAEM, Langendonk JG
Expert Rev Clin Pharmacol 2021 Feb;14(2):151-160. doi: 10.1080/17512433.2021.1879638. PMID: 33507118
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M
Mol Genet Metab 2019 Nov;128(3):298-303. Epub 2019 Jan 24 doi: 10.1016/j.ymgme.2019.01.020. PMID: 30704898Free PMC Article
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059

Prognosis

Liver involvement in patients with erythropoietic protoporphyria.
Wensink D, Coenen S, Wilson JHP, Wagenmakers MAEM, Langendonk JG
Dig Liver Dis 2022 Apr;54(4):515-520. Epub 2021 Aug 30 doi: 10.1016/j.dld.2021.08.007. PMID: 34475006
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
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
Eur J Dermatol 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. PMID: 33021473
Diagnostic Delay in Erythropoietic Protoporphyria.
Lala SM, Naik H, Balwani M
J Pediatr 2018 Nov;202:320-323.e2. Epub 2018 Jul 2 doi: 10.1016/j.jpeds.2018.06.001. PMID: 30041937Free PMC Article
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC
Orphanet J Rare Dis 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342Free PMC Article
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198

Clinical prediction guides

Results from a first-in-human study of dersimelagon, an investigational oral selective MC1R agonist.
Ogasawara A, Ogawa K, Ide R, Ikenaga Y, Fukunaga C, Nakayama S, Tsuda M
Eur J Clin Pharmacol 2023 Jun;79(6):801-813. Epub 2023 Apr 15 doi: 10.1007/s00228-023-03476-6. PMID: 37060458Free PMC Article
Liver involvement in patients with erythropoietic protoporphyria.
Wensink D, Coenen S, Wilson JHP, Wagenmakers MAEM, Langendonk JG
Dig Liver Dis 2022 Apr;54(4):515-520. Epub 2021 Aug 30 doi: 10.1016/j.dld.2021.08.007. PMID: 34475006
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
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
Eur J Dermatol 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. PMID: 33021473
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198

Recent systematic reviews

Experimental and approved treatments for skin photosensitivity in individuals with erythropoietic protoporphyria or X-linked protoporphyria: A systematic review.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC
Biomed Pharmacother 2023 Feb;158:114132. Epub 2022 Dec 14 doi: 10.1016/j.biopha.2022.114132. PMID: 36525819
Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.
Noyman Y, Edel Y, Snast I, Sherman S, Kaftory R, Lapidoth M, Mimouni D, Hodak E, Levi A
Photodermatol Photoimmunol Photomed 2021 Sep;37(5):374-379. Epub 2021 Feb 21 doi: 10.1111/phpp.12667. PMID: 33556208

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