An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent.
erythropoietic protoporphyria
ferrochelatase
jaundice
photosensitivity
porphyria
Journal
ACG case reports journal
ISSN: 2326-3253
Titre abrégé: ACG Case Rep J
Pays: United States
ID NLM: 101638398
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
23
11
2022
accepted:
30
01
2023
entrez:
9
3
2023
pubmed:
10
3
2023
medline:
10
3
2023
Statut:
epublish
Résumé
Erythropoietic protoporphyria (EPP) presents with nonblistering photosensitivity. Hepatobiliary manifestations are seen in around 5% cases and include cholelithiasis, elevations in liver enzymes, progressive jaundice, and end-stage liver disease. The diagnosis is suspected based on clinical features and elevated erythrocyte metal-free protoporphyrin and confirmed by genetic analysis showing loss-of-function mutations in the ferrochelatase (FECH) gene. We present an adolescent boy who presented with jaundice and photosensitivity with the liver biopsy showing deposition of brown pigments within the canaliculi and hepatocytes. This pigment showed Maltese cross birefringence on polarizing microscopy and Medusa-head appearance on electron microscopy. Genetic analysis revealed loss-of-function mutations in FECH. Introduction of EPP is an inborn error of heme biosynthesis caused by mutations in FECH with a prevalence of 1:75,000 to 1:200,000. We present a case of a 16-year-old adolescent boy with photosensitivity, abdominal pain, and jaundice with protoporphyrin deposition in the liver who was ultimately diagnosed with EPP based on genetic analysis.
Identifiants
pubmed: 36891180
doi: 10.14309/crj.0000000000000996
pii: ACGCR-22-0776
pmc: PMC9988325
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e00996Informations de copyright
© 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.
Références
Blood. 1999 Mar 15;93(6):2105-10
pubmed: 10068685
Gut. 2007 Jul;56(7):1009-18
pubmed: 17360790
Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):91-6
pubmed: 11929053
Liver Transpl. 2005 Dec;11(12):1590-6
pubmed: 16315313
Ann Clin Biochem. 1990 Sep;27 ( Pt 5):395-412
pubmed: 2281921
Nat Genet. 2002 Jan;30(1):27-8
pubmed: 11753383
Am J Hum Genet. 2006 Jan;78(1):2-14
pubmed: 16385445
Br J Dermatol. 2006 Sep;155(3):574-81
pubmed: 16911284
Lancet. 1961 Aug 26;2(7200):448-51
pubmed: 13765301
Clin Chem. 2015 Dec;61(12):1453-6
pubmed: 26482161
World J Gastroenterol. 2010 Sep 28;16(36):4526-31
pubmed: 20857522
J Pediatr. 2018 Nov;202:320-323.e2
pubmed: 30041937
Am J Hum Genet. 1996 Feb;58(2):292-9
pubmed: 8571955