[Hereditary hyperferritinemia-cataract syndrome]

Symptom-free brother and sister of Italian descent (age: 31 and 28 years), under examination to exclude haemochromatosis, were found to have increased serum ferritin levels. Both had cataracts removed, as had their mother. Physical examination had been normal in both siblings.

Serum ferritin levels were raised to 926 and 956 ng/ml, respectively, while blood and differential counts, blood sugar and serum iron levels, iron binding capacity and transaminases were within normal limits. Liver sonography was normal and biopsies excluded haemochromatosis in both cases. The serum ferritin levels were elevated in all family members who had a cataract.

Family history, greatly elevated serum ferritin levels and cataracts established diagnoses of hereditary hyperferritinaemia-cataract syndrome.

The autosomally inherited hyperferritinaemia-cataract syndrome is a new condition that should be included in the differential diagnosis of hereditary hyperferritinaemia. A single measurement of the serum ferritin level and ophthalmological examination are sufficient to make the diagnosis; liver biopsy is unnecessary and blood letting contraindicated, because it would quickly cause microcytic iron-deficiency anaemia.