Porphyria cutanea tarda and hepatoerythropoietic porphyria: Management and prognosis
- Ashwani K Singal, MD, MS
Ashwani K Singal, MD, MS
- Associate Professor, Division of Gastroenterology and Hepatology
- University of Alabama at Birmingham
- Karl E Anderson, MD, FACP
Karl E Anderson, MD, FACP
- The University of Texas Medical Branch
The porphyrias are metabolic disorders caused by altered activity of enzymes in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT; previously called symptomatic porphyria, chemical porphyria, toxic porphyria) is the most common and the most readily treated of the porphyrias.
This topic review discusses the management and prognosis of PCT, a cutaneous porphyria (acquired or inherited) caused by deficient activity of uroporphyrinogen decarboxylase (UROD) in the liver, and hepatoerythropoietic porphyria (HEP), an extremely rare condition caused by biallelic UROD mutation. The pathogenesis, clinical manifestations, and diagnostic evaluation for PCT and HEP are presented in detail separately. (See "Porphyria cutanea tarda and hepatoerythropoietic porphyria: Clinical manifestations and diagnosis".)
Additional topic reviews discuss management of other cutaneous porphyrias:
●Congenital erythropoietic porphyria (CEP) – (See "Congenital erythropoietic porphyria", section on 'Management'.)
●Erythropoietic protoporphyria (EPP) – (See "Erythropoietic protoporphyria and X-linked protoporphyria", section on 'Management'.)
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- OVERVIEW OF MANAGEMENT
- ADDITIONAL TESTING ONCE DIAGNOSIS IS ESTABLISHED
- PRIMARY THERAPIES FOR PCT
- Hydroxychloroquine (or chloroquine)
- SKIN PROTECTION
- AVOIDANCE OF SUSCEPTIBILITY FACTORS
- TREATMENT OF HCV AND HIV INFECTION
- Hepatitis C virus (HCV)
- Human immunodeficiency virus (HIV)
- IRON CHELATION
- HEP MANAGEMENT
- GENETIC COUNSELING AND ASYMPTOMATIC CARRIER MANAGEMENT
- SUMMARY AND RECOMMENDATIONS