Background: The clinical expression of hemochromatosis is presumed to be less frequent and less severe in women than in men because of the iron loss associated with menses and pregnancy, but this hypothesis has not been validated.
Objective: To compare the clinical features of women who have genetic hemochromatosis with those of men who have the disease.
Design: Cross-sectional study.
Setting: Tertiary referral centers for hemochromatosis in France and Canada.
Patients: 176 women and 176 men with hemochromatosis, matched for year of birth.
Measurements: Age at presentation, clinical symptoms, transferrin saturation, serum ferritin level, hepatic iron concentration, and hepatic iron index.
Results: Hepatic iron concentration and hepatic iron index were similar in men and women. Women had lower serum ferritin levels than men did (911 µg/L compared with 1911 µg/L; mean difference, 1000 µg/L [95% CI, 669 µg/L to 1331 µg/L]) and less iron removed by venesections (5.5 g and 8.6 g; mean difference, 3.1 g [CI, 1.5 g to 4.8 g]). Compared with women, men had a higher incidence of cirrhosis (25.6% and 13.8%; mean difference, 11.8 percentage points [CI, 3.2 to 20.4 percentage points]) and diabetes (15.9% and 7.4%; mean difference, 8.5 percentage points [CI, 1.9 to 5.2 percentage points]). Compared with men, women had a higher incidence of fatigue (64.8% and 42%; mean difference, −22.8 percentage points [CI, −32.9 to −12.5 percentage points]) and pigmentation (48% and 44.9%; mean difference, −13.1 percentage points [CI, −23.4 to 2.7 percentage points]). Hepatic iron concentration and hepatic iron index were greater in women in whom menstruation had stopped before 50 years of age. Serum ferritin levels and transferrin saturation were normal in 6.2% of women and 0% of men.
Conclusions: Women with genetic hemochromatosis can have full phenotypic expression of the disease, including cirrhosis. Recognizing the nonspecific nature of presenting symptoms in women is essential for early diagnosis and treatment.