Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report

Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with photosensitive dermatitis and acute icteric h...

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Main Authors: Hanqing Huang, Leiqin Cai, Xinhua Li, Shuru Chen
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2022-06-01
Series:Liver Research
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2542568422000216
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author Hanqing Huang
Leiqin Cai
Xinhua Li
Shuru Chen
author_facet Hanqing Huang
Leiqin Cai
Xinhua Li
Shuru Chen
author_sort Hanqing Huang
collection DOAJ
description Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with photosensitive dermatitis and acute icteric hepatitis caused by EPP, whose clinical and biochemical results successfully improved following 2-month treatment with glucose load, ursodeoxycholic acid capsules, and cholestyramine powder. This case provides a reference for a combination therapy strategy for patients with liver and skin injury caused by EPP.
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spelling doaj.art-1c3ba72774a64542ac680548e85bb42a2022-12-22T03:32:52ZengKeAi Communications Co., Ltd.Liver Research2542-56842022-06-0162116120Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case reportHanqing Huang0Leiqin Cai1Xinhua Li2Shuru Chen3Department of Infectious Diseases and Key Laboratory of Liver Disease of Guangdong Province, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China; Department of Gastroenterology, People's Hospital of Longhua District of Shenzhen, Shenzhen, Guangdong, ChinaGuang Dong Clinical Research Center for Metabolic Diseases, Department of Endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, ChinaDepartment of Infectious Diseases and Key Laboratory of Liver Disease of Guangdong Province, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China; Corresponding authors. Department of Infectious Diseases and Key Laboratory of Liver Disease of Guangdong Province, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.Department of Infectious Diseases and Key Laboratory of Liver Disease of Guangdong Province, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China; Corresponding authors. Department of Infectious Diseases and Key Laboratory of Liver Disease of Guangdong Province, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with photosensitive dermatitis and acute icteric hepatitis caused by EPP, whose clinical and biochemical results successfully improved following 2-month treatment with glucose load, ursodeoxycholic acid capsules, and cholestyramine powder. This case provides a reference for a combination therapy strategy for patients with liver and skin injury caused by EPP.http://www.sciencedirect.com/science/article/pii/S2542568422000216Erythropoietic protoporphyria (EPP)Inherited diseasePhotosensitive dermatitisJaundiceFerrochelatase (FECH)Liver injury
spellingShingle Hanqing Huang
Leiqin Cai
Xinhua Li
Shuru Chen
Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
Liver Research
Erythropoietic protoporphyria (EPP)
Inherited disease
Photosensitive dermatitis
Jaundice
Ferrochelatase (FECH)
Liver injury
title Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
title_full Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
title_fullStr Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
title_full_unstemmed Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
title_short Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report
title_sort diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria a case report
topic Erythropoietic protoporphyria (EPP)
Inherited disease
Photosensitive dermatitis
Jaundice
Ferrochelatase (FECH)
Liver injury
url http://www.sciencedirect.com/science/article/pii/S2542568422000216
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