Abordaje terapéutico de las crisis agudas de porfirias hepáticas

IF 2.3 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Revista clinica espanola Pub Date : 2024-12-01 DOI:10.1016/j.rce.2024.07.004

M. Garrido Montes, R. Pertusa Mataix, J.S. Garcia Morillo

{"title":"Abordaje terapéutico de las crisis agudas de porfirias hepáticas","authors":"M. Garrido Montes, R. Pertusa Mataix, J.S. Garcia Morillo","doi":"10.1016/j.rce.2024.07.004","DOIUrl":null,"url":null,"abstract":"<div><div>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.</div><div>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.</div><div>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.</div><div>Preventive treatment options include hormone suppression therapy, off-label prophylactic hemin, givosiran, and exceptionally liver transplantation.</div></div>","PeriodicalId":21223,"journal":{"name":"Revista clinica espanola","volume":"224 10","pages":"Pages 664-669"},"PeriodicalIF":2.3000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista clinica espanola","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0014256524001541","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 0

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.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

Revista clinica espanola 医学-医学：内科

CiteScore

4.40

自引率

6.90%

发文量

审稿时长

28 days

期刊介绍： Revista Clínica Española published its first issue in 1940 and is the body of expression of the Spanish Society of Internal Medicine (SEMI). The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice. Revista Clínica Española is subject to a thorough double blind review of the received articles written in Spanish or English. Nine issues are published each year, including mostly originals, reviews and consensus documents.