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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

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
Newer aspects on the treatment of erythropoietic protoporphyria.
Sandberg S
Photodermatol 1985 Feb;2(1):1-2. PMID: 3982990
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

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
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 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
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
Erythropoietic protoporphyria.
Br Med J 1979 Dec 8;2(6203):1456. PMID: 526809Free 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
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
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
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
Beta-carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases.
Mathews-Roth MM
Biochimie 1986 Jun;68(6):875-84. doi: 10.1016/s0300-9084(86)80104-3. PMID: 3092881

Prognosis

Incidence and Prevalence of Erythropoietic Protoporphyria in Colombia Between 2014 and 2018.
Jaramillo-Calle DA
Actas Dermosifiliogr (Engl Ed) 2021 Feb;112(2):186-188. Epub 2020 Sep 28 doi: 10.1016/j.ad.2019.04.019. PMID: 32991848
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
Total hip arthroplasty in very young bone marrow transplant patients.
Ledford CK, Vap AR, Bolognesi MP, Wellman SS
J Surg Orthop Adv 2015 Summer;24(2):99-104. doi: 10.3113/jsoa.2015.0099. PMID: 25988690
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

Distribution of protoporphyrin IX in erythrocytes in a case of acquired erythropoietic protoporphyria.
Heerfordt IM, Fontenete S, Lerche CM, Wulf HC
Photodiagnosis Photodyn Ther 2022 Mar;37:102629. Epub 2021 Nov 16 doi: 10.1016/j.pdpdt.2021.102629. PMID: 34798346
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
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Light-induced redistribution and photobleaching of protoporphyrin in erythrocytes from patients with erythropoietic protoporphyria: an explanation of the rapid fading of fluorocytes.
Brun A, Sandberg S
J Photochem Photobiol B 1988 Jul;2(1):33-41. doi: 10.1016/1011-1344(88)85035-8. PMID: 3149300

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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