Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.
EPP
adult-onset
erythropoietic protoporphyria
Journal
Photodermatology, photoimmunology & photomedicine
ISSN: 1600-0781
Titre abrégé: Photodermatol Photoimmunol Photomed
Pays: England
ID NLM: 9013641
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
revised:
18
01
2021
received:
25
09
2020
accepted:
04
02
2021
pubmed:
9
2
2021
medline:
18
1
2022
entrez:
8
2
2021
Statut:
ppublish
Résumé
Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood). To evaluate the characteristics of inherited genetic late-onset (IGLO) EPP. A systematic comprehensive search of the literature was conducted using PubMed, Google Scholar, ScienceDirect, and clinicaltrials.gov databases. Studies describing patients with IGLO EPP were included. Additionally, we present an index case of a patient, treated at our clinic in whom inherited genetic EPP was diagnosed at age 21 years. The search yielded 1514 citations. Five publications were eligible for review. Along with our case, 7 patients (4 males) were included in the analysis. Mean age at disease onset was 34.2 years (range 18-69, median 30). Most patients presented with mild pruritus and rash in a photosensitive distribution. Mean level of free erythrocyte protoporphyrin IX (FEP) was 8.6 μmol/L. A mutant ferrochelatase gene (FECH) in trans to a hypomorphic FECH allele was found in 3 of the 4 patients who underwent genetic testing. We describe the distinct features of IGLO EPP. This work emphasizes that a diagnosis of inherited genetic EPP should not be ruled out in adults with new-onset photosensitive manifestations.
Sections du résumé
BACKGROUND
BACKGROUND
Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood).
PURPOSE
OBJECTIVE
To evaluate the characteristics of inherited genetic late-onset (IGLO) EPP.
METHODS
METHODS
A systematic comprehensive search of the literature was conducted using PubMed, Google Scholar, ScienceDirect, and clinicaltrials.gov databases. Studies describing patients with IGLO EPP were included. Additionally, we present an index case of a patient, treated at our clinic in whom inherited genetic EPP was diagnosed at age 21 years.
RESULTS
RESULTS
The search yielded 1514 citations. Five publications were eligible for review. Along with our case, 7 patients (4 males) were included in the analysis. Mean age at disease onset was 34.2 years (range 18-69, median 30). Most patients presented with mild pruritus and rash in a photosensitive distribution. Mean level of free erythrocyte protoporphyrin IX (FEP) was 8.6 μmol/L. A mutant ferrochelatase gene (FECH) in trans to a hypomorphic FECH allele was found in 3 of the 4 patients who underwent genetic testing.
CONCLUSION
CONCLUSIONS
We describe the distinct features of IGLO EPP. This work emphasizes that a diagnosis of inherited genetic EPP should not be ruled out in adults with new-onset photosensitive manifestations.
Substances chimiques
Ferrochelatase
EC 4.99.1.1
Types de publication
Case Reports
Journal Article
Review
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
374-379Informations de copyright
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Murphy GM. The cutaneous porphyrias: a review. Br J Dermatol. 1999;140:573-581.
Christiansen A, Aagaard L, Krag A, Rasmussen L, Bygum A. Cutaneous porphyrias: causes, symptoms, treatments and the Danish incidence 1989-2013. Acta Derm Venereol. 2016;96:868-872.
Edel Y, Mamet R, Snast I, et al. Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study. J Eur Acad Dermatol Venereol. 2020;34:184-187.
Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis. 2009;4:19.
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. J Invest Dermatol. 2007;127:2790-2794.
Gouya L, Martin-Schmitt C, Robreau AM, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006;78:2-14.
Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002;30:27-28.
Mizawa M, Makino T, Nakano H, Sawamura D, Shimizu T. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. Br J Dermatol. 2016;174:172-175.
Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Postgrad Med J. 2007;83:739-748.
Warren L, George S. Erythropoietic protoporphyria treated with narrow-band (TL-01) UVB phototherapy. Australas J Dermatol. 1998;39:179-182.
Mathews-Roth MM. Carotenoids in erythropoietic protoporphyria and other photosensitivity diseases. Ann N Y Acad Sci. 1993;691:127-138.
Langendonk JG, Balwani M, Anderson KE, et al. Afamelanotide for erythropoietic protoporphyria. N Engl J Med. 2015;373:48-59.
Wensink D, Wagenmakers MAEM, Barman-Aksözen J, et al. Association of afamelanotide with improved outcomes in patients with erythropoietic protoporphyria in clinical practice. JAMA Dermatol. 2020;156:1-6.[Online ahead of print].
Snast I, Kaftory R, Sherman S, et al. Acquired erythropoietic protoporphyria: a systematic review of the literature. Photodermatol Photoimmunol Photomed. 2020;36:29-33.
Knobloch K, Yoon U, Vogt PM. Preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement and publication bias. J Cranio-Maxillofacial Surg. 2011;39:91-92.
Wahlin S, Floderus Y, Stål P, Harper P. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med. 2011;269:278-288.
Berroeta L, Man I, Goudie DR, Whatley SD, Elder GH, Ibbotson SH. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. Br J Dermatol. 2007;157:1030-1031.
Azad J, Brennan P, Carmichael AJ. New mutation identified in two sisters with adult-onset erythropoietic protoporphyria. Clin Exp Dermatol. 2013;38:601-605.
Fallon JD, Kvedar JC, Margolis RJ, Pathak MA. Erythropoietic protoporphyria presenting in adulthood. Arch Dermatol. 1989;125:1286-1287.
Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun. 1991;181:594-599.
Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol. 2006;155:574-581.
Mizawa M, Makino T, Furukawa F, et al. The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria. JAAD Case Rep. 2017;3:169-171.
Wahlin S, Floderus Y, Ros AM, Broomé U, Harper P. The difficult clinical diagnosis of erythropoietic protoporphyria. Physiol Res. 2006;55(Suppl 2):S155-S157.
Rüfenacht UB, Gouya L, Schneider-Yin X, et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet. 1988;62:1341-1352.
Balwani M, Doheny D, Bishop DF, et al. Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013;19:26-35.
Balwani M, Naik H, Anderson KE, et al. Clinical, biochemical, and genetic characterization of north American patients with erythropoietic protoporphyria and x-linked protoporphyria. JAMA Dermatol. 2017;153:789-796.
García-Martín P, De Argila D, To-Figueras J, Llamas-Velasco M, Fraga J, García-Diez A. Phototolerance induced by narrow-band UVB phototherapy in severe erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. 2012;28:261-263.
Cox TM. Erythropoietic protoporphyria. J Inherit Metab Dis. 1997;20:258-269.
Kaye ET, Levin JA, Blank IH, Arndt KA, Anderson RR. Efficiency of opaque photoprotective agents in the visible light range. Arch. Dermatol. 1991;127:351-355.
Mathews-Roth MM, Pathak MA, Fitzpatrick TB, Harber LH, Kass EH. Beta carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases. Arch. Dermatol. 1977;113:1229-1232.
U.S. Food & Drug Administration. FDA News Release: FDA approves first treatment to increase pain-free light exposure in patients with a rare disorder | FDA. https://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-increase-pain-free-light-exposure-patients-rare-disorder. Accessed September 18, 2020.
European Medicines Agency. EU/3/08/541 | European Medicines Agency. https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu308541. Accessed September 18, 2020.