Background. Hereditary hemochromatosis (HH) is a common hereditary disorder that primarily afflicts patients of Northern European descent. A single mutation of the HFE gene results in unregulated dietary iron uptake with the potential to deleteriously affect multiple organ systems including the eye. If HH is suspected, a screening test measuring transferrin saturation is initially obtained. Confirmation of this disorder is accomplished with genetic testing and liver biopsy. Treatment should commence immediately and undergo venesection (phlebotomy) treatments 2 to 4 times a year for the remainder of the patient's life.
Case Report. The following is a case of a 54-year-old male of Scottish-German descent who was evaluated for a subconjunctival hemorrhage (SCH). A review of the patient's record disclosed that he had 12 previous episodes of SCH over a 10-year period. He was undergoing a comprehensive evaluation for HH due to the recent diagnosis of this condition in his older brother. Hematologic analysis showed that our patient had a serum ferritin level 4 to 5 times higher than normal (1340 μg/L) and a homozygous recessive profile of the HFE gene. Once under maintenance venesection therapy, the frequency of the SCH diminished.
Conclusions. HH must be considered a differential diagnosis in cases of recurrent SCH. Coupled with the recognition of characteristic physical signs and symptoms of HH, hematologic analysis and genetic testing may further aid in diagnosis. With early detection and treatment, the optometrist can make a significant impact on the life expectancy of the patient.