[Often unrecognized: erythropoietic protoporphyria].
Erythropoietic protoporphyria is an autosomal dominant hereditary disorder with irregular penetrance. Recently, the first molecular DNA defects have been published. Various courses the disease may take are illustrated by three cases. The main symptom is photosensitivity, usually beginning in early childhood. Development of gallstones at an early age is one possible complication. Terminal liver failure, a rare but fatal complication, is due to intrahepatic protoporphyrin deposition and is treatable by liver transplantation only. Possible treatment schemes for photosensitivity and for liver involvement are discussed.
Minder
E I
EI
Institut für Klinische Chemie, Universitätsspital Zürich.
Schneider-Yin
X
X
D000328:Adult; D002769:Cholelithiasis / Q000209:etiology; D002784:Cholesterol; D005260:Female; D006801:Humans; D017093:Liver Failure / Q000209:etiology / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D010375:Pedigree; D010787:Photosensitivity Disorders / Q000209:etiology; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
D002784:Cholesterol