Colon perforation secondary to porphyria.
Acute intermittent porphyria (AIP) is a rare, inherited metabolic disorder of the haem biosynthesis pathway. The diagnosis is well known to cause significant diagnostic challenge due to its broad range of symptoms that may mimic many other conditions. We report a case of AIP that presented with caecal perforation, a clinical scenario that has not previously been reported in the literature.
Thomas
Kathryn E
KE
Department of Colorectal Surgery, Rotherham General Hospital, Rotherham, UK. k_thomas22@hotmail.com
Fletcher
Daniel
D
Mottahedeh
Mina
M
D000328:Adult; D002429:Cecal Diseases / Q000209:etiology* / Q000601:surgery; D006801:Humans; D007416:Intestinal Perforation / Q000209:etiology* / Q000601:surgery; D008297:Male; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000175:diagnosis / Q000628:therapy