The porphyrias encompass a group of disorders characterized by inherited or acquired derangements in the biosynthesis of heme.Porphyria cutanea tarda is the most common form and is characterized by chronic skin lesions and hepatic disease.It may rarely be complicated by hepatocellular carcinoma. We present a 67 year old man who presented with hepatocellular carcinoma on a background of previous porphyria cutanea tarda.
The patient was diagnosed with Type 2 diabetes in 1990. He was noted to have non-tender hepatomegaly and elevated GGT levels .Hepatitis serology was negative and abdominal ultrasound was normal.The patient presented in 1999 with tense blisters on the face and hands. Porphyria cutanea tarda was suspected and confirmed by elevated urinary porphyrin levels(17000 nmol/l).Serum ferritin was raised at 1650 ng/ml(normal 22-322).He was treated with weekly venesection and did not develop any further skin lesions .He was discharged from dermatology follow up in May 2000 and remained symptom free for 2 years. Liver enzymes over this period remained mildly elevated. The patient presented in February 2002 with abdominal pain , weight loss and hepatomegaly. Liver function tests were deranged (GGT 412, ALP350) and ferritin was raised at 4785 ng/ml. Abdominal CT showed multiple hepatic lesions. Liver biopsy confirmed primary hepatocellular carcinoma.
Liver function tests are frequently abnormal in diabetic patients due to hepatic steatosis.It is important to exclude underlying systemic conditions before attributing the abnormal liver enzymes to diabetes alone as potentially serious liver pathology may co-exist.
Sporadic forms of porphyria cutanea tarda are strongly associated with Hepatitis C virus markers. Patients develop liver damage due to iron toxicity and are at high risk of developing hepatocellular carcinoma. Risk factors include male gender, age over 50 years and a long history of symptomatic porphyria. Physicians should be aware of this potentially serious complication of porphyria cutanea tarda.
22 - 24 Mar 2004
British Endocrine Societies