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Liver transplantation in the management of porphyria
Author(s) -
Singal Ashwani K.,
Parker Charles,
Bowden Christine,
Thapar Manish,
Liu Lawrence,
McGuire Brendan M.
Publication year - 2014
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.27086
Subject(s) - porphyria , erythropoietic protoporphyria , medicine , porphyria cutanea tarda , acute intermittent porphyria , liver transplantation , uroporphyrinogen iii decarboxylase , transplantation , gastroenterology , dermatology , protoporphyrin , heme , biology , porphyrin , enzyme , biochemistry
Porphyrias are a group of eight metabolic disorders, each resulting from a mutation that affects an enzyme of the heme biosynthetic pathway. Porphyrias are classified as hepatic or erythropoietic, depending upon the site where the gene defect is predominantly expressed. Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino‐levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with skin blistering and photosensitivity: porphyria cutanea tarda; congenital erythropoietic porphyria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X‐linked. Liver transplantation (LT) may be needed for recurrent and/or life‐threatening acute attack in acute intermittent porphyria or acute liver failure or end‐stage chronic liver disease in erythropoietic protoporphyria. LT in acute intermittent porphyria is curative. Erythropoietic protoporphyria patients needing LT should be considered for bone marrow transplantation to achieve cure. Conclusion : This article provides an overview of porphyria with diagnostic approaches and management strategies for specific porphyrias and recommendations for LT with indications, pretransplant evaluation, and posttransplant management. (H epatology 2014;60:1082–1089)