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Hepatic porphyria: A narrative review.
Indian J Gastroenterol. 2016 Nov; 35(6):405-418.IJ

Abstract

Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). Of these, AIP and ADP are classified as acute porphyria, PCT as cutaneous, while VP and HCP present with both acute and cutaneous clinical manifestations. Porphobilinogen levels in a spot urine sample is the initial screening test for the diagnosis of acute hepatic porphyria, and plasma with spot urine porphyrin levels is the initial screening test to approach patients suspected of cutaneous porphyria. Specific biochemical porphyrin profile for each porphyria helps in determining the specific diagnosis. Pain relief and elimination of triggering agents are the initial steps in managing a patient presenting with an acute attack. Intravenous glucose administration terminates the mild episode of acute porphyria, with intravenous hemin needed for management of moderate to severe episodes. Liver transplantation is curative and may be needed for patients with a life-threatening acute porphyria attack or for patients with recurrent acute attacks refractory to prophylactic treatment. Of the cutaneous porphyrias, PCT is the most common and is frequently associated with a combination of multiple susceptibility factors such as alcohol use, smoking, hepatitis C virus infection, HIV infection, estrogen use, and mutations of the hemochromatosis gene. Regular phlebotomy schedule and low-dose hydroxychloroquine are effective and safe treatment options for management of PCT.

Authors+Show Affiliations

Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA. Division of Gastroenterology and Hepatology, UAB University of Alabama in Birmingham, Birmingham, AL, USA.Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA. ashwanisingal.com@gmail.com. Division of Gastroenterology and Hepatology, UAB University of Alabama in Birmingham, Birmingham, AL, USA. ashwanisingal.com@gmail.com.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

27796941

Citation

Arora, Sumant, et al. "Hepatic Porphyria: a Narrative Review." Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, vol. 35, no. 6, 2016, pp. 405-418.
Arora S, Young S, Kodali S, et al. Hepatic porphyria: A narrative review. Indian J Gastroenterol. 2016;35(6):405-418.
Arora, S., Young, S., Kodali, S., & Singal, A. K. (2016). Hepatic porphyria: A narrative review. Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 35(6), 405-418.
Arora S, et al. Hepatic Porphyria: a Narrative Review. Indian J Gastroenterol. 2016;35(6):405-418. PubMed PMID: 27796941.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hepatic porphyria: A narrative review. AU - Arora,Sumant, AU - Young,Steven, AU - Kodali,Sudha, AU - Singal,Ashwani K, Y1 - 2016/10/31/ PY - 2016/08/06/received PY - 2016/09/15/accepted PY - 2016/11/1/pubmed PY - 2017/9/22/medline PY - 2016/11/1/entrez KW - Hydroxychloroquine KW - Metabolic disorders KW - Porphyria SP - 405 EP - 418 JF - Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology JO - Indian J Gastroenterol VL - 35 IS - 6 N2 - Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). Of these, AIP and ADP are classified as acute porphyria, PCT as cutaneous, while VP and HCP present with both acute and cutaneous clinical manifestations. Porphobilinogen levels in a spot urine sample is the initial screening test for the diagnosis of acute hepatic porphyria, and plasma with spot urine porphyrin levels is the initial screening test to approach patients suspected of cutaneous porphyria. Specific biochemical porphyrin profile for each porphyria helps in determining the specific diagnosis. Pain relief and elimination of triggering agents are the initial steps in managing a patient presenting with an acute attack. Intravenous glucose administration terminates the mild episode of acute porphyria, with intravenous hemin needed for management of moderate to severe episodes. Liver transplantation is curative and may be needed for patients with a life-threatening acute porphyria attack or for patients with recurrent acute attacks refractory to prophylactic treatment. Of the cutaneous porphyrias, PCT is the most common and is frequently associated with a combination of multiple susceptibility factors such as alcohol use, smoking, hepatitis C virus infection, HIV infection, estrogen use, and mutations of the hemochromatosis gene. Regular phlebotomy schedule and low-dose hydroxychloroquine are effective and safe treatment options for management of PCT. SN - 0975-0711 UR - https://www.unboundmedicine.com/medline/citation/27796941/Hepatic_porphyria:_A_narrative_review_ L2 - https://dx.doi.org/10.1007/s12664-016-0698-0 DB - PRIME DP - Unbound Medicine ER -