CONTEXT: Most cases of primary hypertriglyceridemia (HTG) are caused by the 
interaction of unknown polygenes and environmental factors. Elevated iron 
storage is associated with metabolic syndrome, diabetes, and obesity, and all of 
them are associated with HTG.
OBJECTIVE: The aim of the study was to analyze whether HFE mutations causing 
hereditary hemochromatosis (HH) are associated with primary HTG.
DESIGN: Genetic predisposition to HH was analyzed in a case-control study.
SETTING: The study was conducted at University Hospital Lipid Clinic.
PARTICIPANTS: We studied two groups: 1) the HTG group, composed of 208 patients; 
and 2) the control group, composed of 215 normolipemic subjects and 161 familial 
hypercholesterolemia patients.
INTERVENTION: Two HFE mutations (C282Y and H63D) were analyzed.
MAIN OUTCOME MEASURE: We measured HH genetic predisposition difference between 
groups.
RESULTS: HH genetic predisposition was 5.9 and 4.4 times higher in the HTG group 
than in the normolipemic (P = 0.02) and FH (P = 0.05) subjects, respectively. 
There were 35 cases (16.8%) of iron overload in the primary HTG group, 14 (6.5%) 
and nine (5.6%) in the normolipidemic and FH groups, respectively. A higher HH 
genetic predisposition and a different prevalence of iron overload in subjects 
with HH genetic predisposition among groups contributed to this higher 
prevalence. None of the four cases with the HFE genotype associated with high 
risk of HH in the control groups presented iron overload; however, in eight of 
11 subjects (72.7%) with primary HTG and HH genetic predisposition, the iron 
overload was present.
CONCLUSION: Mutations in HFE gene, favoring iron overload and causing HH, could 
play an important role in the development of several phenotypes of primary HTG.