Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management

AbstractPurpose of ReviewTo review the peripheral neurological complications of the acute hepatic porphyrias, as well as the latest advances in their pathophysiology and management.Recent FindingsThe diagnosis of porphyric neuropathy remains challenging as varying neuropathic patterns are encountered depending on disease stage, including a non-length-dependent distribution pattern. The major pathophysiologic mechanism is δ-aminolevulinic acid (ALA)–induced neurotoxicity. The less restrictive blood-nerve barrier in the autonomic ganglia and myenteric plexus may explain the frequency of dysautonomic manifestations. Recently, a prophylactic small interfering RNA (siRNA)-based therapy that reduces hepatic ALA Synthas e-1 mRNA was approved for patients with recurrent neuro-visceral attacks.SummaryNeurologists should appreciate the varying patterns of porphyric neuropathy. As with most toxin-induced axonopathies, long-term outcomes depend on early diagnosis and treatment. While the short-term clinical and biochemical benefits of siRNA-based therapy are known, its long-term effects on motor recovery, chronic pain, and dysautonomic manifestations are yet to be determined.

Source: Current Neurology and Neuroscience Reports - October 6, 2020 Category: Neuroscience Source Type: research