Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Neluwa-Liyanage Ruwan IndikaT KesavanH W DilanthiK L S P K M JayasenaN D P D ChandrasiriI N JayasingheU M T PiumikaD M VidanapathiranaK D A V GunarathneM DissanayakeE JasingeW Kodikara ArachchiD DohenyR J DesnickPublished in: BMC research notes (2018)
The most common clinical presentation of Acute Intermittent Porphyria is abdominal pain with neurovisceral manifestations which are common to several medical, psychiatric and surgical pathologies. This leads to underdiagnosis and misdiagnosis of this disorder, incorrect management, and severe complications. Therefore, a high index of suspicion and awareness of front line laboratory investigations are important for diagnosis. Definitive diagnosis enables implementation of strategies to prevent acute attacks, and also triggers genetic testing and genetic counseling of at-risk family members.