Definition

The term ‘juvenile hemochromatosis’ is used to describe a particularly severe form of genetic hemochromatosis, complicated by heart failure and endocrine disorders with manifestations in persons less than 30 years of age. Juvenile hemochromatosis should be distinguished from another iron overload syndrome of early onset known as neonatal hemochromatosis. The relationship of juvenile hemochromatosis to the common adult form of genetic hemochromatosis and to neonatal hemochromatosis is unclear at present. Elucidation of the etiology of these particular forms of severe and potentially fatal iron overload syndromes can be expected from the recently discovered hemochromatosis gene (HFE).

Incidence and prevalence

There is little information about the incidence and prevalence of clinical disease with symptomatic onset before the age of 30 years. The pattern of juvenile hemochromatosis was first recognized and described by French authors in the early 1930s and termed ‘le syndrome endocrinehepato-cardiaque’. The early French cases have been summarized by Royer de Vericourt in his thesis, published in 1935 when Sheldon's famous monograph4 also appeared, in which he expressed his belief that hemochromatosis is the result of an inborn error of metabolism.

In the review of Finch and Finch published in 1955, only 3.5% of their 787 patients were younger than 30 years. A review of the literature pertinent to juvenile hemochromatosis published in 1979 by Lamon et al. reviewed 52 cases. Since 1979, at least 13 additional cases have been described. Unlike adult genetic hemochromatosis, juvenile hemochromatosis appears to affect males and females equally (Table 30.1) Because most of the published data on juvenile hemochromatosis are based on single case reports, its prevalence and distribution in different ethnic populations is difficult to estimate.