Porphyric neuropathy in black South Africans: a case series

Abstract

Porphyria is a rare disorder that results from mutations in the genes important in haem biosynthesis. Several types are described. Acute attacks lead to central, autonomic and peripheral nervous system manifestations. These acute attacks typically occur in acute intermittent porphyria, and less so in variegate porphyria. The neuropathy in this condition can mimic Guillain-Barré syndrome (GBS), and is often misdiagnosed and incorrectly treated. It is rare in general, but considered to be extremely uncommon in the black African population. We describe five black South African patients, three of whom were diagnosed with variegate porphyria, with the presenting manifestation of a severe neuropathy. The neuropathy was atypical in nature and variable in presentation and highlight the importance of considering porphyria in such patients.