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| Disease found: | Porphyria Cutenea Tarda |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Acquired Uroporphyrinogen decarboxylase (UROD) deficiency (less commonly inherited) leading to porphyrin accumulation in the skin, liver, and blood [more info] |
| Signs and Symptoms: | Adult onset; skin blistering after sun exposure (w/crusting); changes in skin pigmentation over time; liver toxicity (siderosis, steatosis, and/or fibrosis) [more info] |
| Diagnosis: | Blood, urine, and stool testing for excess porphyrin accumulation. Inherited UROD mutation is NOT required for diagnosis. |
| Treatment: | Regular therapeutic phlebotomy to reduce iron and porphyrin levels is effective. Low-dose chloroquine or hydroxychloroquine, iron chelators, are alternative when phlebotomy is contraindicated. [more info] |
| Clinical Management: | Minimize exposure to triggers such as sunlight, smoking, alcohol, estrogens, hepatotoxins, iron supplements. Test all PCT patients for HCV (commonly co-occurs with PCT). Monitor iron status to avoid overload. Pregnancy is not contraindicated, though patients should assess iron load before conception, and the pregnancy is higher-risk. Monitor patients annually for iron panel and urinary porphyria; re-initate treatment if urinary porphyrin begins to exceed 400 µg/g creatinine. Patients at higher risk for hepatocellular carcinoma - there is no one guideline, but CT/US annually to every 6 months has been suggested. [more info] |
| Referral: | The American Porphyria Foundation can be called at 866.273.3635 for info on physicians who specialize in porphyria. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | There are currently two studies recruiting. |