Case report of a complicated neurologically manifesting acute porphyria treated successfully with Givosiran

Acute hepatic porphyria (AHP) is a rare cause of neurological disorders of the peripheral and central nervous system. The underlying pathophysiology comprises deficiencies of diverse enzymes required for heme biosynthesis [1]. Acute intermittent porphyria (AIP) is the most common hepatic porphyria and is characterized by psychiatric symptoms, unspecific diffuse abdominal pain and in severe cases consciousness loss, coma and seizures [2]. The accumulation of various metabolites such as delta-aminolevulinic acid (ALA) and possibly porphobilinogen (PBG) may cause neuropathy of the peripheral and autonomous nervous system including the central nervous system in severe cases [3].Those crises can be triggered by certain medications, alcohol, starving, stress and hormonal fluctuations, amongst others [2].

Source: Journal of the Neurological Sciences - January 31, 2021 Category: Neurology Authors: Tim Steinberg, Mustafa Kilic, Kornelius Fuchs, Karel Hanyk, Ralf A. Linker, Felix Schlachetzki, Bernhard Neumann Tags: Letter to the Editor Source Type: research