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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
Erythropoietic protoporphyria--diagnosis and treatment.
Mathews-Roth MM
N Engl J Med 1977 Jul 14;297(2):98-100. doi: 10.1056/NEJM197707142970207. PMID: 865582

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
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
Hematologic and hepatic manifestations of the cutaneous porphyrias.
Pimstone NR
Clin Dermatol 1985 Apr-Jun;3(2):83-102. doi: 10.1016/0738-081x(85)90035-5. PMID: 3916835

Diagnosis

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever S, Peersman N, Meersseman W, Cassiman D, Vermeersch P
J Inherit Metab Dis 2022 Nov;45(6):1151-1162. Epub 2022 Aug 26 doi: 10.1002/jimd.12545. PMID: 36053909
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
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):358-362. Epub 2018 Aug 31 doi: 10.1016/j.ymgme.2018.08.015. PMID: 30454868
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

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
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
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ
JAMA Dermatol 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557. PMID: 28614581Free PMC Article
Afamelanotide: A Review in Erythropoietic Protoporphyria.
Kim ES, Garnock-Jones KP
Am J Clin Dermatol 2016 Apr;17(2):179-85. doi: 10.1007/s40257-016-0184-6. PMID: 26979527
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

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.
Edel Y, Mamet R, Snast I, Kaftory R, Mazor S, Hodak E, Lapidoth M, Elis A, Molad Y, Levi A
J Eur Acad Dermatol Venereol 2020 Jan;34(1):184-187. Epub 2019 Jul 16 doi: 10.1111/jdv.15769. PMID: 31264284
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
New developments in erythropoietic porphyrias.
Darwich E, Herrero C
Actas Dermosifiliogr 2013 Apr;104(3):212-9. Epub 2012 Jul 4 doi: 10.1016/j.ad.2011.12.021. PMID: 22766189
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

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
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ
JAMA Dermatol 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557. PMID: 28614581Free PMC Article
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Kadara H, Nemer G, Safi R, Rebeiz N, Daou L, Delbani D, Btadini W, Abbas O, Tofaili M, Bitar F, Kibbi AG, Shimomura Y, Kurban M
Clin Genet 2017 Nov;92(5):495-502. Epub 2017 Aug 2 doi: 10.1111/cge.12968. PMID: 28075030
Antioxidant inhibition of porphyrin-induced cellular phototoxicity.
Böhm F, Edge R, Foley S, Lange L, Truscott TG
J Photochem Photobiol B 2001 Dec 31;65(2-3):177-83. doi: 10.1016/s1011-1344(01)00259-7. PMID: 11809377
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
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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