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Case Reports
. 2023 Oct 31:37:101018.
doi: 10.1016/j.ymgmr.2023.101018. eCollection 2023 Dec.

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report

Antoine Poli  1   2   3   4 , Camilla Frieri  5   6 , Thibaud Lefebvre  3 , Juliette Delforge  7 , Arienne Mirmiran  3 , Neila Talbi  3 , Boualem Moulouel  3 , Marion Six  7 , Valérie Paradis  8 , Nathalie Parquet  9 , Hervé Puy  1   2   3   4 , Caroline Schmitt  1   2   3   4 , Elisabeth Aslangul  7 , Flore Sicre de Fontbrune  5 , Laurent Gouya  1   2   3   4
Affiliations
Case Reports

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report

Antoine Poli et al. Mol Genet Metab Rep. .

Abstract

Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for severe photosensitivity in patients, thus drastically decreasing their quality of life. The liver eliminates PPIX and as such, the main and rare complication of EPP is progressive cholestatic liver disease, which can lead to liver failure. The management of this complication is challenging, as it often requires a combination of approaches to promote PPIX elimination and suppress the patient's erythropoiesis. Here we described a 3-year follow-up of an EPP patient, with three episodes of liver involvement, aggravated by the coexistence of a factor VII deficiency. It covers all the different types of intervention available for the management of liver disease, right through to successful allogeneic hematopoietic stem cell transplantation.

Keywords: Cholestasis; Erythropoietic; Hematopoietic stem cell transplantation; Intrahepatic; Iron; Protoporphyria; Protoporphyrin IX.

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Conflict of interest statement

The authors declare no competing financial interests.

Figures

Fig. 1
Fig. 1
Patient biological parameters throughout the three episodes of EPP-related hepatopathy. A: erythrocyte total porphyrins level during the three episodes of liver involvement. B (second episode) and C (third episode): upper panel, total erythrocyte porphyrin level (purple diamonds) and hemoglobin level (red dots), lower panel: total bilirubin (green), ALT (orange) and GGT (blue, only in panel B) levels. Small red arrows indicate blood transfusions. Large blue arrows indicate red blood cells exchange. HSCT: hematopoietic stem cell transplantation; PE: plasma exchange; BT: red blood cells transfusion.
Fig. 2
Fig. 2
Liver biopsy. A: sirius red stain showing preserved lobular architecture with mild portal fibrosis and perisinusoidal fibrosis (x10). B: liver parenchyma showing mild steatosis and regenerative hepatocellular areas with brown pigment accumulation (hematein & eosin stain x20). C: brown pigment accumulation is observed in bile canaliculi and in Kupffer cells with sinusoids; some hepatocytes are steatotic (macro- and microvesicular steatosis, hematein & eosin stain x40).
See this image and copyright information in PMC

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