Department of Medicine and Gastroenterology, Klinikum Vest GmbH - Paracelsus-Klinik Marl, Marl, Germany.
Obes Rev. 2010 Apr;11(4):329-31. doi: 10.1111/j.1467-789X.2009.00670.x. Epub 2009 Oct 21.
The acute hepatic porphyrias can cause life-threatening attacks of neurovisceral symptoms that mimic other acute medical conditions. Variegate porphyria caused by mutations in the protoporphyrinogen oxidase (PPOX) gene is a latent disorder characterized by exacerbations induced by fasting, alcohol consumption or certain drugs. We describe the case of a 46-year-old female patient presenting with a first episode of symptomatic porphyria after 10 d of sibutramine treatment for weight loss. Genetic analysis showed a heterozygous R168H hot spot mutation in the PPOX gene. A putative effect of sibutramine on the hepatic haem biosynthetic pathway and reduced food intake have likely caused this exacerbation of a porphyria attack. Although this may be the first case report of this kind, the risk of acute porphyria should be considered in patients using pharmacotherapy for obesity.
急性肝卟啉症可引起危及生命的神经内脏症状发作，这些症状类似于其他急性疾病。由于原卟啉原氧化酶（PPOX）基因突变引起的杂合性卟啉症是一种潜伏性疾病，其特征是禁食、饮酒或某些药物引发加重。我们描述了一例 46 岁女性患者的病例，在接受西布曲明（用于减肥）治疗 10 天后出现首次症状性卟啉症发作。基因分析显示 PPOX 基因中的 R168H 热点突变杂合子。西布曲明可能对肝血红素生物合成途径和减少食物摄入产生影响，从而导致这种卟啉症发作加重。虽然这可能是此类情况的首例报告，但使用肥胖症药物治疗的患者应考虑急性卟啉症的风险。
