Canadian guidance for diagnosis and management of acute hepatic porphyrias

IF 2.5 3区 医学 Q2 MEDICAL LABORATORY TECHNOLOGY Clinical biochemistry Pub Date : 2024-07-09 DOI:10.1016/j.clinbiochem.2024.110792
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Abstract

Acute hepatic porphyrias (AHP) comprise four rare monogenic autosomal conditions. Each is linked to a deficiency of heme metabolizing enzymes. Common manifestations include severe abdominal pain, nausea, confusion, hyponatremia, hypertension, tachycardia, and neuropathy. Diagnosis is challenging due to a non-specific, variable presentation with symptoms mimicking other common conditions. Initial diagnosis of AHP can be made with a test for urinary porphobilinogen, δ-aminolevulinic acid and porphyrins using a single random (spot) sample. However, many patients have complications due to delays in diagnosis and management. A novel small interfering RNA-based agent, givosiran, has demonstrated efficacy in reducing acute attacks in a recent Phase III trial, leading to its approval for the management of AHP. Early diagnosis is crucial for the timely introduction of disease-modifying treatments that reduce impairments, enhance quality of life, and extend survival. In this guidance, we aim to improve awareness and outcomes of AHP by making recommendations about diagnosis, monitoring, and treatment in Canada.

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加拿大急性肝卟啉症诊断和管理指南。
急性肝卟啉症(AHP)包括四种罕见的单基因常染色体疾病。每种疾病都与缺乏血红素代谢酶有关。常见表现包括剧烈腹痛、恶心、精神错乱、低钠血症、高血压、心动过速和神经病变。由于该病无特异性,表现多变,症状与其他常见疾病相似,因此诊断具有挑战性。通过使用单个随机(点状)样本检测尿液中的卟啉原、δ-氨基乙酰丙酸和卟啉,可以初步诊断出 AHP。然而,由于诊断和治疗的延误,许多患者出现了并发症。在最近的一项三期试验中,一种基于小核糖核酸的新型药物吉沃西兰(givosiran)被证明在减少急性发作方面具有疗效,因此被批准用于治疗 AHP。早期诊断对于及时采用改变病情的治疗方法至关重要,这些治疗方法可减轻损伤、提高生活质量并延长生存期。在本指南中,我们就加拿大的诊断、监测和治疗提出了建议,旨在提高人们对 AHP 的认识并改善其治疗效果。
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来源期刊
Clinical biochemistry
Clinical biochemistry 医学-医学实验技术
CiteScore
5.10
自引率
0.00%
发文量
151
审稿时长
25 days
期刊介绍: Clinical Biochemistry publishes articles relating to clinical chemistry, molecular biology and genetics, therapeutic drug monitoring and toxicology, laboratory immunology and laboratory medicine in general, with the focus on analytical and clinical investigation of laboratory tests in humans used for diagnosis, prognosis, treatment and therapy, and monitoring of disease.
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