Porphyria Cutanea Tarda (PCT) experience in Victoria, Australia
Quynh Le, Robert Fullinfaw, Myra McGuinness, Gayle Ross
Abstract
Background
Porphyria Cutanea Tarda (PCT) is a metabolic disorder resulting from a deficiency of hepatic enzyme uroporphyrinogen decarboxylase (UROD). UROD deficiency results in the accumulation of porphyrins, which are phototoxic and hepatotoxic. PCT patients are at increased risk of developing hepatocellular carcinoma.
Aims
To describe a series of PCT patients presenting to a tertiary center over 35-year period from the 1980s to December 2015 and review current literature to date on PCT, with a focus on PCT management.
Methods
A search of the center’s dermatology department and biochemistry database were performed to identify patients diagnosed with PCT. Demographic data, underlying risk factors and management details were obtained. Statistical tests were performed to identify any possible association between the variables of interest.
Results
34 patients were included in this study. Mean age of diagnosis was 48 years and there was no gender difference. 12 patients had Hepatitis C infection, 25 had excessive alcohol consumption, 13 had hereditary haemochromatosis. Eight patients developed oestrogen-associated or hormonal replacement therapy (HRT) induced PCT. 33 patients (97 per cent) responded to venesection. Six (18 per cent) patients were prescribed hydroxychloroquine, either alone or concurrently with venesection. They all achieved remission. Average duration of follow up is 13 years. One patient developed hepatocellular carcinoma (HCC).
Conclusion
Our study has reinforced venesection as an effective treatment for PCT. Low dose hydroxychloroquine can be used in patients where venesection is contraindicated or not tolerated. General measures such as alcohol abstinence, visible violet light protection and trauma avoidance are recommended.
Full Text:
Porphyria Cutanea Tarda (PCT) is a metabolic disorder resulting from a deficiency of hepatic enzyme uroporphyrinogen decarboxylase (UROD). UROD deficiency results in the accumulation of porphyrins, which are phototoxic and hepatotoxic. PCT patients are at increased risk of developing hepatocellular carcinoma.
Aims
To describe a series of PCT patients presenting to a tertiary center over 35-year period from the 1980s to December 2015 and review current literature to date on PCT, with a focus on PCT management.
Methods
A search of the center’s dermatology department and biochemistry database were performed to identify patients diagnosed with PCT. Demographic data, underlying risk factors and management details were obtained. Statistical tests were performed to identify any possible association between the variables of interest.
Results
34 patients were included in this study. Mean age of diagnosis was 48 years and there was no gender difference. 12 patients had Hepatitis C infection, 25 had excessive alcohol consumption, 13 had hereditary haemochromatosis. Eight patients developed oestrogen-associated or hormonal replacement therapy (HRT) induced PCT. 33 patients (97 per cent) responded to venesection. Six (18 per cent) patients were prescribed hydroxychloroquine, either alone or concurrently with venesection. They all achieved remission. Average duration of follow up is 13 years. One patient developed hepatocellular carcinoma (HCC).
Conclusion
Our study has reinforced venesection as an effective treatment for PCT. Low dose hydroxychloroquine can be used in patients where venesection is contraindicated or not tolerated. General measures such as alcohol abstinence, visible violet light protection and trauma avoidance are recommended.
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