Acute intermittent porphyria with peripheral neuropathy complicated by small‐fiber neuropathy

We describe a 60‐year‐old male patient with acute intermittent porphyria (AIP) who presented with initial abdominal pain and subsequent quadriplegia and respiratory failure. Small fiber neuropathy was demonstrated by measuring intra‐epidermal nerve fiber density (IENFD) using protein gene product 9.5 (PGP 9.5) immunostaining on three consecutive skin punch biopsies of the distal lower limb. The biopsy findings demonstrated some correlation with progression of the patient’s clinical condition. Neuropathy in AIP can have a small‐fiber component rather than being solely a large‐fiber neuropathy.