Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
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.
Department of Medicine and Gastroenterology, Klinikum Vest GmbH - Paracelsus-Klinik Marl, Marl, Germany. m.reiser@paracelsus-klinik-marl.de
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Reiser
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Eickmann
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Haverkamp
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Finckh
D001067:Appetite Depressants / Q000009:adverse effects*; D003503:Cyclobutanes / Q000009:adverse effects*; D005260:Female; D005420:Flavoproteins / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D024101:Mitochondrial Proteins / Q000378:metabolism; D009154:Mutation; D046350:Porphyria, Variegate / Q000139:chemically induced* / Q000235:genetics*; D011166:Porphyrins / Q000652:urine; D050768:Protoporphyrinogen Oxidase / Q000235:genetics / Q000378:metabolism; D015431:Weight Loss / Q000187:drug effects
D001067:Appetite Depressants; D003503:Cyclobutanes; D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase; C058254:sibutramine