A case of fatal acute intermittent porphyria: laboratory diagnosis and pathogenesis considerations / Un caz fatal de porfirie acută intermitentă: diagnostic de laborator şi consideraţii patogenice

Acute intermittent porphyria (AIP) is a metabolic disease with an autosomal dominant inheritance, with porphobilinogen (PBG) deaminase as the deficient enzyme in heme biosynthetic pathway at cytosolic subcellular locations. This diagnosis must be evoked in all adults with unexplained symptoms, but some clinical features are suggestive: women with reproductive age; abdominal pain; muscle weakness; sever and prolonged hyponatremia; dark or reddish urine.

The authors present a fatal case of a 39-years old female who presented acute abdominal pain followed by severe peripheral nervous system lesions with tetraplegia. Urine analysis showed enormously increased levels of porphirins, PBG and Δ aminolevulinic acid. The diagnosis of AIP was established and even if the correct treatment (Hemine, glucose) was administrated, the patient died after 3 weeks from onset due to a septic shock.

The authors discuss the laboratory abnormalities that are found in AIP and also the pathogenesis of the acute attack of AIP as well as the mechanism of severe nervous system damage that is less understood.

In conclusion, laboratory testing must be performed early and if a diagnose of AIP is not made promptly serious consequences may follow for the patient.