Background:  Hemocromatosis (HFE) gene mutations have been associated with a decreased risk of peripheral neuropathy in HIV⁺ patients during ART.

Methods:  All patients with a diagnosis of peripheral neuropathy based on electromyography were studied for the presence of HFE mutations. Presence of other risk factors for peripheral neuropathy (alcohol abuse, diabetes, hepatitis B virus [HBV]/hepatitis C virus [HCV] co-infections, CD4 nadir, HIV RNA zenith, age, and cumulative exposure to dideoxynucleoside analogues [ddX; ie, stavudine, didanosine, and zalcitabine]) was assessed and their prevalence compared among patients with or without HFE mutations.

Results:  We studied 57 patients affected by peripheral neuropathy (82% male, mean age 46 years, 67% HCV co-infected, 9% alcohol abusers, 5% diabetic, median CD4 nadir 75 cells/mm³, median exposure to ddX 554 days). Among them, 36 (63%) had no HFE mutations, 14 (25%) had H63D heterozygosis, 3 (5%) had H63D homozygosis, and 4 (7%) had C282Y heterozygosis. No statistically significant differences were found with respect to demographic and risk factors for peripheral neuropathy comparing patients with or without HFE gene mutations. Most of patients (35 of 57; 61%) had 3 or more risk factors for peripheral neuropathy (among alcohol abuse, diabetes, HCV/HBV co-infection, CD4 nadir <100 cells/mm³, HIV RNA zenith >5 log/mL, cumulative exposure to ddX >554 days). The group of patients with no HFE mutations was not significantly different for number of peripheral neuropathy risk factors (67% and 58% with ≥3 risk factors in patients with and without mutations, respectively; p = 0.53).

Conclusions:  Prevalence of HFE mutations in this group of HIV patients with a diagnosis of peripheral neuropathy confirmed by electromyography was even higher than that found in the general Italian population in the same region (15% in the general population vs 30% in our HIV population for H63D and 5% vs 7% for C282Y heterozigosis, respectively). Since both patient groups with and without HFE mutations had similar and comparable numbers of peripheral neuropathy risk factors, these mutations did not appear to protect them from peripheral neuropathy.