Therapeutic approach to acute crises of hepatic porphyrias.

Rev Clin Esp (Barc)

Unidad de Enfermedades Raras y Autoinmunes Sistémicas, Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain.

Published: December 2024

AI Article Synopsis

  • - Acute hepatic porphyria is a genetic disorder that affects the production of heme and is primarily caused by issues with specific enzymes, with acute intermittent porphyria being the most common type.
  • - Triggered by factors that induce the enzyme ALA synthase 1, this disorder leads to the buildup of toxic heme intermediates, causing severe symptoms such as abdominal pain, muscle weakness, and autonomic dysfunction; women are more prone to these attacks than men.
  • - Prompt recognition and treatment are essential, requiring urgent medical interventions like intravenous opioids and glucose, while preventive measures include hormone suppression and possibly liver transplantation.

Article Abstract

Acute hepatic porphyria is a genetic disorder affecting enzymes involved in heme biosynthesis. The most common subtype is acute intermittent porphyria, accounting for 80% of cases. Other types include hereditary coproporphyria, variegate porphyria, and delta-aminolevulinic acid dehydratase deficiency. Attacks in acute hepatic porphyria are triggered by the induction of hepatic ALA synthase 1, leading to the accumulation of neurotoxic heme intermediates, delta-aminolevulinic acid, and porphobilinogen. Women experience attacks more frequently than men. Acute porphyria attacks are characterized by severe, diffuse abdominal pain, muscle weakness, autonomic neuropathy (including hypertension, tachycardia, nausea, vomiting, and constipation), and changes in mental status. Early recognition of the disease is crucial as it requires urgent medical attention and treatment. Management includes intravenous opioids, glucose, hemin, and the removal of triggering factors. Preventive treatment options include hormone suppression therapy, off-label prophylactic hemin, Givosiran, and exceptionally liver transplantation.

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Source
http://dx.doi.org/10.1016/j.rceng.2024.09.004DOI Listing

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