How to Get a Diagnosis of Porphyria

Amy has seen one case of porphyria presented with abdominal pain in a young female. The patient was 27 it's often latent in many generations there's often no family history and it's an autosomal dominant condition. 90 percent of gene carriers actually have no attacks but because of incomplete penetrance of the gene so that's what she ultimately had. There is a whole host of very beautiful but rare medical conditions that can present with severe abdominal pain that we should mentally run through our internal ruling or rule out, he says.