[Erythrohepatic protoporphyria. A rare differential diagnosis of parenchymatous jaundice].
Parenchymatous jaundice persisted in a 59-year-old woman[correction of man] after cholecystectomy for gallbladder stones. She had a history of skin sensitivity to light. Laboratory tests demonstrated an excessive increase of free protoporphyrin in red blood cells and plasma, as well as abnormal coproporphyrinuria, indicating the diagnosis of far advanced erythropoietic protoporphyria with an hepatobiliary component. Conservative treatment with ursodeoxycholic acid brought no relief and liver transplantation was therefore performed. Bilirubin concentration and all other liver parameters became normal within 2 months postoperatively. No complications have occurred in a follow-up period of one year. The combination of light-sensitive skin with gall-stones and, at a later stage, parenchymatous jaundice should always make one consider protoporphyria. As recognition of the initial liver phase in erythropoietic protoporphyria is decisive for the success of treatment, regular examination of liver parameters and of the porphyrins in blood, urine and stool is recommended.
Gauer
E B
EB
Medizinische Klinik C, Städtischen Klinikums Ludwigshafen.
Doss
M O
MO
Riemann
J F
JF
D003306:Coproporphyrins / Q000652:urine; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000737:chemistry*; D005260:Female; D006801:Humans; D007565:Jaundice / Q000097:blood / Q000209:etiology*; D016031:Liver Transplantation; D008875:Middle Aged; D010787:Photosensitivity Disorders / Q000097:blood; D011164:Porphyrias / Q000097:blood* / Q000601:surgery; D011524:Protoporphyrins / Q000097:blood*
D003306:Coproporphyrins; D011524:Protoporphyrins
Erythrohepatische Protoporphyrie. Eine seltene Differentialdiagnose des parenchymatösen Ikterus.