Expert Consensus on the Diagnosis and Treatment of Acute Intermittent Porphyria in China(2024)
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急性间歇性卟啉病(AIP)是由血红素生物合成途径中第3个酶——羟甲基胆素合成酶[HMBS，又称卟胆原脱氨酶(PBGD)]活性不足引起，是一种外显率很低的常染色体显性遗传病。AIP主要影响女性，可由多种诱因触发急性发作，主要表现为腹痛、恶心呕吐、肠梗阻、便秘等急性神经内脏症状，严重者可导致癫痫、四肢无力、精神症状。反复发作可引起多种慢性损伤。AIP临床表现缺乏特异性，临床医生认识不足，误诊率高，致残致死风险大。为进一步提高各专业医生的规范救治水平，中华医学会罕见病分会、中华医学会内分泌学分会内分泌罕见病学组及中国药师协会罕见病用药工作委员会组织专家团队，参考国内外相关流行病学调查、临床与基础研究成果，共同编写、制订《急性间歇性卟啉病诊疗中国专家共识(2024版)》。针对116篇文献中提炼总结出来的核心内容，严格遵循德尔菲法，由27位相关专业专家组成的专家团队，进行投票表决，同意程度≥70%者达成共识。最终生成23条推荐意见，在急性间歇性卟啉病的诊断、治疗、评估及预防等方面形成共识，为临床规范化诊疗提供了依据。 Acute intermittent porphyria(AIP) is a rare autosomal dominant disorder caused by reduced activity of hydroxymethylbilane synthase(HMBS), or porphobilinogen deaminase(PBGD), the third enzyme in the heme biosynthesis pathway, with very low penetrance. AIP mainly affects women and is triggered by various factors, leading to acute neurovisceral symptoms such as abdominal pain, nausea and vomiting, intestinal obstruction, constipation, and in severe cases, epilepsy, weakness of the limbs, and psychiatric disturbances. Recurrent attacks may result in chronic injuries. Due to nonspecific symptoms and limited clinical awareness, AIP is often misdiagnosed, contributing to high morbidity and mortality. To standardize diagnosis and treatment practices, the Chinese Society of Rare Diseases, in collaboration with the Study Group of Endocrinology Rare Diseases, the Chinese Society of Endocrinology, and the Chinese Pharmacists Association Rare Diseases Medication Working Committee, developed the Expert Consensus on the Diagnosis and Treatment of Acute Intermittent Porphyria in China(2024). This consensus was based on a review of 116 relevant studies, with a professional panel of 27 experts using the Delphi method to reach agreement on 23 key recommendations, aiming to guide standardized clinical practice in the diagnosis, treatment, evaluation, and prevention of AIP.
Acute intermittent porphyria(AIP) is a rare autosomal dominant disorder caused by reduced activity of hydroxymethylbilane synthase(HMBS), or porphobilinogen deaminase(PBGD), the third enzyme in the heme biosynthesis pathway, with very low penetrance. AIP mainly affects women and is triggered by various factors, leading to acute neurovisceral symptoms such as abdominal pain, nausea and vomiting, intestinal obstruction, constipation, and in severe cases, epilepsy, weakness of the limbs, and psychiatric disturbances. Recurrent attacks may result in chronic injuries. Due to nonspecific symptoms and limited clinical awareness, AIP is often misdiagnosed, contributing to high morbidity and mortality. To standardize diagnosis and treatment practices, the Chinese Society of Rare Diseases, in collaboration with the Study Group of Endocrinology Rare Diseases, the Chinese Society of Endocrinology, and the Chinese Pharmacists Association Rare Diseases Medication Working Committee, developed the Expert Consensus on the Diagnosis and Treatment of Acute Intermittent Porphyria in China(2024). This consensus was based on a review of 116 relevant studies, with a professional panel of 27 experts using the Delphi method to reach agreement on 23 key recommendations, aiming to guide standardized clinical practice in the diagnosis, treatment, evaluation, and prevention of AIP.
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