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.
Reiser
M
M
Department of Medicine and Gastroenterology, Klinikum Vest GmbH - Paracelsus-Klinik Marl, Marl, Germany. m.reiser@paracelsus-klinik-marl.de
Eickmann
S
S
Haverkamp
T
T
Finckh
U
U
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