Clinical Guidance

Familial porphyria cutanea tarda (F-PCT) is characterized by cutaneous findings including skin friability and chronic blistering over sun-exposed areas (classically the dorsal aspects of the hands). In contrast to the acute hepatic porphyrias or erythropoietic cutaneous porphyrias, F-PCT does not manifest as acute episodes of pain or acute/painful skin changes upon sun exposure, respectively. Hepatic involvement of F-PCT is characterized by elevation in aminotransferases, increased iron stores, and varying degrees of fibrosis accompanied by an increased risk for hepatocellular carcinoma. Skin findings include photosensitivity resulting in the formation of blisters over the dorsal aspects of the hands and other sun-exposed areas of skin (e.g.

Diagnostic Criteria

Suggestive Findings

Familial porphyria cutanea tarda (F-PCT) should be suspected in a proband with the following clinical findings and suggestive biochemical findings. In some, there may also be a family history of PCT, although this is far from universal. Clinical features (typically developing in the 5th-6th decade):

Source: GeneReviews — "Familial Porphyria Cutanea Tarda"

Management Guidelines

No clinical practice guidelines for familial porphyria cutanea tarda (F-PCT) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with familial porphyria cutanea tarda (F-PCT), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Surveillance Guidelines

Monitor urinary porphyrin levels annually. For those who have been treated by phlebotomy, resume iron reduction by therapeutic phlebotomies if and when urinary uroporphyrins and heptacarboxylporphyrins increase to greater than 400 g/g creatinine to prevent recurrence of cutaneous signs. Note: Increase in urinary total porphyrins may also be caused by an increase in coproporphyrin (which is not relevant to F-PCT); thus, when urinary porphyrin levels are only moderately increased, urinary porphyrin fractionation should be performed. Because of reports of an association between diabetes mellitus and PCT , annual screening with a fasting glucose level is recommended, particularly in those with hypertension (blood pressure 135/80 mm Hg). Hepatocellular cancer (HCC) surveillance relies on a combination of serum alpha-fetoprotein determinations and hepatic ultrasonography or cross-sectional imaging (CT or MRI). No guidelines as to the frequency of these tests are currently available because of the rarity of F-PCT and even rarer occurrence of HCC. Surveillance is usually performed annually; however, in those with cirrhosis, hepatologists generally agree that surveillance for HCC should be at least every six months.