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Paralytic Ileus and Liver Failure—An Unusual Presentation of Advanced Erythropoietic Protoporphyria

  • Simone Negrini
  • Gabriele Zoppoli
  • Maurizio Setti
  • Maria Domenica Cappellini
  • Francesco Indiveri
Case Report

Introduction

Erythropoietic protoporphyria (EPP) is an uncommon genetic disorder of heme metabolism caused by the deficiency of mitochondrial ferrochelatase, an enzyme that catalyzes the chelation of iron to protoporphyrin (PP) [1, 2, 3]. Skin involvement is the most typical feature of this disease. It is characterized by light-sensitive dermatitis (usually developing during childhood). Erosions on the face, healing with scars, or waxy thickening of the skin of the nose and knuckles may ensue [4, 5, 6].

Hepatic dysfunction is the most serious and potentially life-threatening complication of EPP, but only a small fraction of EPP patients develop liver abnormalities that seldom can lead to cirrhosis or liver failure [7, 8, 9]. Paralytic ileus, typical of other forms of porphyria, has rarely been reported in EPP patients, and is probably caused by protoporphyrin accumulation in autonomic nerves [4, 10, 11, 12].

Here we describe a patient with EPP associated with severe liver disease and...

Keywords

NASH Protoporphyrin Acute Cholangitis Paralytic Ileus Hematin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Simone Negrini
    • 1
  • Gabriele Zoppoli
    • 1
  • Maurizio Setti
    • 1
  • Maria Domenica Cappellini
    • 2
  • Francesco Indiveri
    • 1
  1. 1.Department of Internal MedicineUniversity of GenoaGenoaItaly
  2. 2.Department of Internal Medicine, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS University of MilanMilanItaly

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