Paralytic Ileus and Liver Failure—An Unusual Presentation of Advanced Erythropoietic Protoporphyria
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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...
KeywordsNASH Protoporphyrin Acute Cholangitis Paralytic Ileus Hematin
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