Roberto Corrocher

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

Summary. The only genetic disorder with elevated serum ferritin levels so far described is hereditary HLA‐related haemochromatosis. On the other hand, hereditary cataract is both genotypically as well as phenotypically heterogenous, and no specific locus or any useful marker has been yet identified. We studied two Italian families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. Affected individuals have normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts are normal and venesection therapy rapidly produces iron‐deficiency anaemia.

RELATIONSHIPS BETWEEN SERUM COPPER CONCENTRATION AND CARDIOVASCULAR RISK FACTORS IN NORMAL SUBJECTS

High serum copper (s-Cu) has been reported as an independent risk factor for cardiovascular disease (CVD) in both case-control (1) and large prospective population studies (2, 3). The mechanisms underlying these associations are largely unclear. In vitro Cu is highly efficient in promoting the oxidation of low-density-lipoprotein (4), which is considered an important step in atherogenesis. A synergistic effect between the pro-oxidant action of Cu and low status of selenium (an antioxidant), leading to atherogenesis via an imbalance of defence against free radicals has been suggested in vivo (5). Also, experimental animal studies suggest a role of Cu in lipid metabolism, particularly in cholesterol (6) and fatty acid metabolism (7). Within the framework of a cross-sectional survey aimed to study the status of several trace elements in a sample of healthy adults (8), we examined the relationships between s-Cu and several, well-known, risk factors for CVD, including plasma lipoproteins and fatty acids, and coagulation factors.