Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation-Reference-Cited by-同舟云学术

Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation

Published:2024-04-26 Issue:5 Volume:11 Page:e01336
ISSN:2326-3253
Container-title:ACG Case Reports Journal
language:en
Short-container-title:ACG Case Rep J

Author:

Gopalakrishna Harish¹^ORCID,Mironova Maria¹,Malik Shahid²,Faust Alison³,Khurram Nigar⁴,Koh Christopher¹,Kleiner David E.⁵,Heller Theo¹³

Affiliation:

1. Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD

2. Division of Gastroenterology, Hepatology, and Nutrition, University of Pittsburgh, Pittsburgh, PA

3. Penn State Health, Pennsylvania State University, Hershey, PA

4. Department of Pathology, University of Pittsburgh, Pittsburgh, PA

5. Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD

Abstract

ABSTRACT Porphyria caused by inherited disorders in heme biosynthesis can lead to accumulation of porphyrins in various organs. Liver involvement due to porphyria mostly results in cholestasis leading to liver cirrhosis or hepatocellular carcinoma. Congenital erythropoietic porphyria (CEP), a rare porphyria due to deficiency of uroporphyrinogen III synthase, mostly results in cutaneous manifestations. There are reports of liver involvement including varying degree of fibrosis in patients with CEP. We report a unique case of a patient with CEP who developed porto-sinusoidal vascular disease with complications of portal hypertension that necessitated liver transplantation.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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