title: Erythropoietic protoporphyria with fatal liver failure.
abstract: A 33-year-old woman with a history of photosensitivity, persistent abdominal pain, and liver dysfunction was admitted to our department because of abdominal pain and progression of liver dysfunction. On admission, levels of protoporphyrin and coproporphyrin within erythrocytes were markedly increased. Autofluorescent erythrocytes were also detected, leading to a diagnosis of erythropoietic protoporphyria. A liver biopsy specimen revealed cirrhosis with dark brown granules filling hepatocytes, bile canaliculi, and bile ductules. Transfusion of washed erythrocytes, hemodialysis, and administration of cholestyramine and beta-carotene transiently improved levels of porphyrins and liver function. The patient died of rupture of esophageal varices followed by multiple organ failure. However, the treatments were believed to have extended survival.
authors.affiliation: Second Department of Medicine, Kurume University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ishibashi
authors.forename: R
authors.initials: R
authors.lastname: Ogata
authors.forename: S
authors.initials: S
authors.lastname: Sakisaka
authors.forename: R
authors.initials: R
authors.lastname: Kumashiro
authors.forename: Y
authors.initials: Y
authors.lastname: Koga
authors.forename: K
authors.initials: K
authors.lastname: Mitsuyama
authors.forename: R
authors.initials: R
authors.lastname: Kuromatsu
authors.forename: Y
authors.initials: Y
authors.lastname: Uchimura
authors.forename: H
authors.initials: H
authors.lastname: Ijyuin
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Iwao
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: M
authors.initials: M
authors.lastname: Sata
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Kin
authors.forename: K
authors.initials: K
authors.lastname: Oizumi
authors.forename: H
authors.initials: H
authors.lastname: Nishida
authors.forename: T
authors.initials: T
authors.lastname: Imaizumi
authors.forename: K
authors.initials: K
authors.lastname: Tanikawa
mesh_terms: D000328:Adult; D001344:Autopsy; D001707:Biopsy, Needle; D018450:Disease Progression; D004359:Drug Therapy, Combination; D004932:Esophageal and Gastric Varices / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D017093:Liver Failure / Q000209:etiology* / Q000473:pathology; D008111:Liver Function Tests; D009102:Multiple Organ Failure / Q000209:etiology*; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications* / Q000473:pathology / Q000628:therapy*; D006435:Renal Dialysis; D012422:Rupture, Spontaneous