Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective

Abstract

Introduction: Acute hepatic porphyria is a genetic disorder caused by irregular activity in the synthesis of the heme group. Although they are of low incidence, their presence can increase the risk of death and affect the quality of life of patients. A bibliographic search was carried out with a time interval from 2015 to 2020 on acute hepatic porphyria. Objectives: To update on the diagnostic and therapeutic alternatives for acute hepatic porphyria in adults. Development: Exposure to certain precipitating factors such as drugs, infections, and stress leads to an acute porphyria crisis, which triggers neurovisceral symptoms and requires hospitalization. There are isolated theories that explain the mechanism of damage during the acute attack, such as autonomic hyperactivity, inflammation, endothelial and mitochondrial dysfunction, kidney damage, and neurotoxicity. However, clinical recognition of these mechanisms without a known diagnosis of porphyria is challenging for medical personnel, due to the presence of nonspecific symptoms and signs, delaying diagnosis. Due to the dependence on hemin for life, new therapeutic alternatives such as gene suppression and liver transplantation have been chosen. The prognosis is favorable when the diagnosis is made in time. Conclusion: Diagnostic and therapeutic alternatives for acute hepatic porphyria in adults have evolved towards orthopedic liver transplantation and gene therapy, which has become a promising and validated therapeutic approach for the treatment of patients with hepatic porphyria.

Keywords

• porfirias hepáticas
• hemo
• hemina
• enfermedades genéticas.