title: [Hereditary hyperferritinaemia-cataract syndrome].
abstract: A 67-year-old woman and a 22-year-old man, great aunt and great nephew, were examined because of hyperferritinaemia; both had been operated during adolescence for bilateral cataract. The clinical diagnosis 'hereditary hyperferritinaemia-cataract syndrome' (HHCS) was confirmed after DNA-analysis, which showed a point mutation in the L-ferritin gene on chromosome 19 (32G > A, the previously reported Pavia-1 mutation). The further supervision of the patients consisted of reassurance, providing an explanation about the background of HHCS and how it differs from HFE-gene related haemochromatosis, and informing other family members. Both patients were referred back to their general practitioners. HHCS is an autosomal dominant disorder that is characterised by elevated serum ferritin in the absence of iron overload. The dysregulation of ferritin production is caused by heterogenous mutations in the iron responsive element of the L-ferritin gene on chromosome 19, which reduce the binding of iron-regulatory proteins. This results in exaggerated L-ferritin mRNA translation, which is normally tightly controlled by the intracellular iron availability. The only relevant clinical symptom is early-onset, bilateral cataract, which is due to L-ferritin deposits in the stroma of the lens. Internists and haematologists should differentiate this syndrome from haemochromatosis in order to avoid invasive diagnostics and mistreatment. Ophthalmologists should consider this syndrome in patients with congenitial or juvenile cataract.
authors.affiliation: Ikazia Ziekenhuis, afd. Intensive Care, Montessoriweg 1, 3083 AN Rotterdam. jm.vd.klooster@ikazia.nl
authors.forename: J M
authors.initials: JM
authors.lastname: van der Klooster
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000097:blood / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood / Q000235:genetics*; D006801:Humans; D007908:Lens, Crystalline / Q000737:chemistry; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome
chemical_list: D005293:Ferritins