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Erythropoietic protoporphyria(EPP)

MedGen UID:
56455
•Concept ID:
C0162568
•
Disease or Syndrome
Synonyms: EPP; Erythrohepatic protoporphyria
SNOMED CT: Protoporphyria (51022005); EPP - erythropoietic protoporphyria (51022005); Erythropoietic protoporphyria (51022005); Erythrohepatic protoporphyria (51022005); Magnus syndrome (51022005)
 
Monarch Initiative: MONDO:0001676
OMIM®: 177000
OMIM® Phenotypic series: PS177000

Definition

Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic Protoporphyria Also see X-linked erythropoietic protoporphyria (XLEPP; 300752), caused by mutation in the ALAS2 gene (301300) on chromosome Xp11, and EPP2 (618015), caused by mutation in the CLPX gene (615611) on chromosome 15q22. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythropoietic protoporphyria
Follow this link to review classifications for Erythropoietic protoporphyria in Orphanet.

Professional guidelines

PubMed

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network
J Am Acad Dermatol 2023 Dec;89(6):1227-1237. Epub 2022 Aug 27 doi: 10.1016/j.jaad.2022.08.036. PMID: 36041558Free PMC Article
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
Treatment for erythropoietic protoporphyria.
Langendonk JG
Br J Dermatol 2015 Jun;172(6):1481-1482. doi: 10.1111/bjd.13769. PMID: 26036158

Recent clinical studies

Etiology

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free 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
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044

Diagnosis

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
The Porphyrias.
Muschalek W, Hermasch MA, Poblete-Gutiérrez P, Frank J
J Dtsch Dermatol Ges 2022 Mar;20(3):316-331. doi: 10.1111/ddg.14743. PMID: 35304965
Erythropoietic Protoporphyria.
Liu ZH, Shen H
J Cutan Med Surg 2022 May-Jun;26(3):314. Epub 2021 May 4 doi: 10.1177/12034754211016295. PMID: 33945342
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
Porphyria.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095

Therapy

Cimetidine for erythropoietic protoporphyria.
Heerfordt IM, Lerche CM, Wulf HC
Photodiagnosis Photodyn Ther 2022 Jun;38:102793. Epub 2022 Mar 2 doi: 10.1016/j.pdpdt.2022.102793. PMID: 35245673
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.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095
Solar urticaria.
Goetze S, Elsner P
J Dtsch Dermatol Ges 2015 Dec;13(12):1250-3. doi: 10.1111/ddg.12809. PMID: 26612794
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

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
Porphyria.
Bissell DM, Anderson KE, Bonkovsky HL
N Engl J Med 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. PMID: 28854095
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Update on photodermatoses.
Santoro FA, Lim HW
Semin Cutan Med Surg 2011 Dec;30(4):229-38. doi: 10.1016/j.sder.2011.07.007. PMID: 22123421
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

Clinical prediction guides

Effects of iron supplements in individuals with erythropoietic protoporphyria.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC
Photodiagnosis Photodyn Ther 2024 Jun;47:104211. Epub 2024 May 9 doi: 10.1016/j.pdpdt.2024.104211. PMID: 38734198
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Erythropoietic Protoporphyria in a Japanese Population.
Mizawa M, Makino T, Nakano H, Sawamura D, Shimizu T
Acta Derm Venereol 2019 Jun 1;99(7):634-639. doi: 10.2340/00015555-3184. PMID: 30938825
Photoonycholysis.
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198

Recent systematic reviews

Effects of iron supplements in individuals with erythropoietic protoporphyria.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC
Photodiagnosis Photodyn Ther 2024 Jun;47:104211. Epub 2024 May 9 doi: 10.1016/j.pdpdt.2024.104211. PMID: 38734198
Phototesting in erythropoietic protoporphyria trials: A systematic review.
Heerfordt IM, Philipsen PA, Lerche CM, Wulf HC
Exp Dermatol 2023 Jul;32(7):1042-1047. Epub 2023 Apr 13 doi: 10.1111/exd.14809. PMID: 37052136
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
A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.
Minder EI, Schneider-Yin X, Steurer J, Bachmann LM
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):84-97. PMID: 19268006

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