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Hepatoerythropoietic porphyria(HEP)

MedGen UID:
57940
•Concept ID:
C0162569
•
Disease or Syndrome
Synonym: HEP
SNOMED CT: Homozygous porphyria cutanea tarda (111386004); Hepatoerythropoietic porphyria (111386004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019799
OMIM®: 176100; 613521
Orphanet: ORPHA95159

Disease characteristics

Excerpted from the GeneReview: Hepatoerythropoietic Porphyria
Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Mild anemia/hemolysis are not uncommon. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Sean Rudnick  |  John Phillips  |  Herbert Bonkovsky, et. al.   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHepatoerythropoietic porphyria

Professional guidelines

PubMed

Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria.
Tewari A, Marsden J, Naik H, Benton EC, Sarkany R
J Am Acad Dermatol 2012 Dec;67(6):1383-4. doi: 10.1016/j.jaad.2012.02.006. PMID: 23158617
Modern diagnosis and management of the porphyrias.
Sassa S
Br J Haematol 2006 Nov;135(3):281-92. Epub 2006 Sep 4 doi: 10.1111/j.1365-2141.2006.06289.x. PMID: 16956347
Erythropoietic protoporphyria: treatment with antioxidants and potential cure with gene therapy.
Mathews-Roth MM
Methods Enzymol 2000;319:479-84. doi: 10.1016/s0076-6879(00)19044-5. PMID: 10907535

Recent clinical studies

Etiology

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Balogun O, Nejak-Bowen K
Semin Liver Dis 2024 May;44(2):209-225. Epub 2024 May 17 doi: 10.1055/s-0044-1787076. PMID: 38772406Free 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
Ferrochelatase.
Ferreira GC
Int J Biochem Cell Biol 1999 Oct;31(10):995-1000. doi: 10.1016/s1357-2725(99)00066-7. PMID: 10582332
The cutaneous porphyrias: a review. The British Photodermatology Group.
Murphy GM
Br J Dermatol 1999 Apr;140(4):573-81. doi: 10.1046/j.1365-2133.1999.02754.x. PMID: 10233305
Erythropoietic protoporphyria presenting in an adult.
Henderson CA, Jones S, Elder G, Ilchyshyn A
J R Soc Med 1995 Aug;88(8):476P-477P. PMID: 7562835Free PMC Article

Diagnosis

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
Inherited disorders of iron metabolism.
Födinger M, Sunder-Plassmann G
Kidney Int Suppl 1999 Mar;69:S22-34. PMID: 10084283
Evaluation of porphyria.
Murphy GM
Photodermatol Photoimmunol Photomed 1998 Apr;14(2):58-63. doi: 10.1111/j.1600-0781.1998.tb00012.x. PMID: 9638725
Protoporphyria.
Cox TM, Alexander GJ, Sarkany RP
Semin Liver Dis 1998;18(1):85-93. doi: 10.1055/s-2007-1007144. PMID: 9516682
The porphyrias.
Lim HW, Murphy GM
Clin Dermatol 1996 Jul-Aug;14(4):375-87. doi: 10.1016/0738-081x(96)00067-3. PMID: 8862915

Therapy

Long-term treatment of erythropoietic protoporphyria with cysteine.
Mathews-Roth MM, Rosner B
Photodermatol Photoimmunol Photomed 2002 Dec;18(6):307-9. doi: 10.1034/j.1600-0781.2002.02790.x. PMID: 12535027
Erythropoietic protoporphyria treated with narrow-band (TL-01) UVB phototherapy.
Warren LJ, George S
Australas J Dermatol 1998 Aug;39(3):179-82. doi: 10.1111/j.1440-0960.1998.tb01278.x. PMID: 9737047
Photo(chemo)therapy and general management of erythropoietic protoporphyria.
Roelandts R
Dermatology 1995;190(4):330-1. doi: 10.1159/000246734. PMID: 7655119
Carotenoids in erythropoietic protoporphyria and other photosensitivity diseases.
Mathews-Roth MM
Ann N Y Acad Sci 1993 Dec 31;691:127-38. doi: 10.1111/j.1749-6632.1993.tb26164.x. PMID: 8129282
Hepatoerythropoietic porphyria.
Bundino S, Topi GC, Zina AM, D'Allessandro Gandolfo L
Pediatr Dermatol 1987 Nov;4(3):229-33. doi: 10.1111/j.1525-1470.1987.tb00784.x. PMID: 3422855

Prognosis

Neuropathy in erythropoietic protoporphyrias.
Muley SA, Midani HA, Rank JM, Carithers R, Parry GJ
Neurology 1998 Jul;51(1):262-5. doi: 10.1212/wnl.51.1.262. PMID: 9674816
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Follow-up after liver transplantation for protoporphyric liver disease.
Bloomer JR, Rank JM, Payne WD, Snover DC, Sharp HL, Zwiener RJ, Carithers RL
Liver Transpl Surg 1996 Jul;2(4):269-75. doi: 10.1002/lt.500020404. PMID: 9346660
Erythropoietic protoporphyria and terminal hepatic failure.
Bruch-Gerharz D, Bolsen K, Gerharz CD, Goerz G
Acta Derm Venereol 1996 Nov;76(6):453-6. doi: 10.2340/0001555576453456. PMID: 8982410
Hepatoerythropoietic porphyria.
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

1599: first iconographic description of hepatoerythropoietic porphyria.
Biolcati G, Dolazza C
Int J Dermatol 2006 Aug;45(8):976-8. doi: 10.1111/j.1365-4632.2006.02931.x. PMID: 16911388
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Caterpillar bodies: distinctive, basement membrane-containing structures in blisters of porphyria.
Egbert BM, LeBoit PE, McCalmont T, Hu CH, Austin C
Am J Dermatopathol 1993 Jun;15(3):199-202. PMID: 8100120
Protoporphyrin photosensitivity cannot be attenuated by oral N-acetylcysteine.
Bijlmer-Iest JC, Baart de la Faille H, van Asbeck BS, van Hattum J, van Weelden H, Marx JJ, Koningsberger JC
Photodermatol Photoimmunol Photomed 1992-1993 Dec;9(6):245-9. PMID: 1343225
Porphyria: genetic and acquired.
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

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