[Multifocal nodular fatty infiltration of the liver associated with porphyria and haemochromatosis].
METHODS
A 64-year-old woman suffered from severe fatigue. She was admitted to our outpatient unit for a diagnostic evaluation of multiple liver lesions as well as an adrenal gland tumor. Diabetes mellitus was diagnosed 22 years ago. Clinical evaluation revealed a mild obesity and a facial hypertrichosis.


METHODS
Apart from elevated liver enzymes, serum ferritin and transferrin saturation were increased. Suspected haemochromatosis was verified by genetic analyses. Analyses of a 24 hours urine sample revealed typical constellation of a chronic hepatic porphyria. The liver lesions were diagnosed as multifocal fatty infiltrations using computer tomography. The patient refused a liver biopsy. The tumor of the adrenal gland represented an adenoma without endocrine activity.


METHODS
Repeated phlebotomies were performed for the treatment of haemochromatosis. In the following serum ferritin returned to normal and liver enzymes as well as hyperporphyriuria decreased markedly. Diabetes was better controlled due to decrease of insulin requirements, too.


CONCLUSIONS
This case report highlights the association of hereditary haemochromatosis and chronic hepatic porphyria, which presumably cause multifocal nodal fatty infiltration of the liver. Iron overload is likely the underlying cause, which represents the target for treatment options.
Daberkow
U
U
Medizinische Poliklinik, Ambulante Spezialmedizin, Universitätsklinikum Charité, Campus Mitte, Berlin. ulrike.daberkow@charite.de
Dörffel
Y
Y
Schmidt
H
H
Scholze
J
J
D000236:Adenoma / Q000150:complications / Q000175:diagnosis; D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000175:diagnosis; D005234:Fatty Liver / Q000000981:diagnostic imaging / Q000209:etiology*; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008875:Middle Aged; D018962:Phlebotomy; D017094:Porphyrias, Hepatic / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D011166:Porphyrins / Q000652:urine; D014057:Tomography, X-Ray Computed; D014168:Transferrin / Q000378:metabolism
D011166:Porphyrins; D014168:Transferrin; D005293:Ferritins