Advances in the diagnosis and treatment of porphyria-related hepatic manifestations

Abstract

Porphyria is a disease caused by defects in the activity of any of the eight enzymes required for the heme synthesis pathway. Most of these are genetic diseases, and the main clinical symptoms are abdominal pain, neuropsychiatric symptoms and skin lesions. Detection of high levels of porphyrin and/or its precursors in blood, urine and feces can be used as diagnostic clues, and known genetic mutations can confirm the diagnosis. Porphyria is rare in clinical practice. However, in recent years, the number of porphyria patients with hepatic disease as the initial symptom has been increasing. Here, we focus on porphyria-related hepatic manifestations and their diagnosis and treatment, so as to provide recommendations for clinicians to reduce the misdiagnosis and missed diagnosis incidence rate.