Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature.
OBJECTIVE
Sporadic Porphyria Cutanea Tarda (sPCT) is associated with liver disease, e.g. HCV infection, haemochromatosis and especially alcoholic liver disease. We conducted a retrospective analysis on the prevalence of liver disorders in association with Porphyria Cutanea Tarda (PCT), in a university referral centre.


METHODS
The PCT cases were retrieved from computerized databases. Patient files lacking information on the presence of concomitant liver disease were excluded from further analysis.


RESULTS
29 PCT patients were retrieved from our databases, of which 17 patients with sPCT were retained for further analysis. Patients were middle aged (mean age: 43 +/- 3) and there was no gender difference (10 males vs. 7 females). Almost all patients had iron overload (14/17). 5 patients had chronic HCV, with type 1b in 3 of them, 7 abused alcohol, 4 patients had hereditary haemochromatosis (3 homozygous C282Y--1 heterozygous H63D/C282Y). In 3 patients sPCT was associated with medication intake and one patient had chronic hepatitis B (HBV). 13 patients were treated with phlebotomies, with success in 11/13. 4 patients were treated with chloroquine, 3 of which also underwent phlebotomies. Of the 5 patients with HCV, 3 were successfully treated with combined antiviral therapy; one of them is planned to be treated; one patient never received therapy and was lost from follow-up. One patient developed hepatocellular carcinoma (HCC) during a median follow-up of 24 years.


CONCLUSIONS
We found a significant association between sPCT and liver disorders, such as chronic HCV infection, alcohol abuse, iron overload and hereditary haemochromatosis. Therefore, patients presenting with PCT should be screened for concomitant liver disease. Iron overload is present in a majority of patients, the majority of patients can be successfully treated with phlebotomies. The risk of developing HCC in our sPCT patients and in literature is low.
Cassiman
David
D
Department of Hepatology, University Hospital Gasthuisberg, University of Leuven, Belgium. David.Cassiman@med.kuleuven.be
Vannoote
Jaarke
J
Roelandts
Rik
R
Libbrecht
Louis
L
Roskams
Tania
T
Van den Oord
Joost
J
Fevery
Johan
J
Garmyn
Marjan
M
Nevens
Frederik
F
D000328:Adult; D001530:Belgium / Q000453:epidemiology; D001706:Biopsy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D015994:Incidence; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D008297:Male; D017119:Porphyria Cutanea Tarda / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D012189:Retrospective Studies; D012307:Risk Factors; D012867:Skin / Q000473:pathology; D014578:Uroporphyrins / Q000652:urine
D014578:Uroporphyrins