Published in:
Open Access
01-11-2013 | Meeting abstract
P01-026 – A case of FMF and hereditary coproporphyria
Authors:
A Ganesha, S Savic
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
We report a unique case in a 17 year old male patient of Algerian origin with two rare genetic conditions with overlapping clinical symptoms. Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serositis. Hereditary coproporphyria (HCP) is one of the type of acute hepatic porphyria resulting in neurovisceral symptoms caused by deficient activity of mitochondrial enzyme coproporphyrinogen oxidase. Both are considered rare differential diagnosis for acute abdominal pain. …