Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism

Abstract

It is generally believed that idiopathic haemochromatosis is exclusively a disease of middle age, affecting primarily men. We describe here four cases of idiopathic haemochromatosis having onset of symptoms before or around the age of 20 years. Other similar cases have previously been reported. In this juvenile form, males and females appear to be equally affected. These subjects may have a history of unexplained abdominal pain, present with hypogonadotropic hypogonadism, and, unless proper treatment is started, die early because of cardiac dysfunction. In this regard, their clinical course is very similar to that of well-transfused thalassemia major. Thus, early diagnosis is even more important in the juvenile form than in the adult form of idiopathic haemochromatosis. We suggest that evaluation of body iron stores should be performed as a screening procedure in young subjects with hypogonadotropic hypogonadism and/or cardiac dysfunction.

Hepatic Failure and Hemochromatosis of Salers and Salers-cross Cattle

“…4 Separate genes are implicated in juvenile hemochromatosis (hemochromatosis type 2), which has been mapped to chromosome 1, and in a disease affecting Italian families wherein there is a homozygous nonsense mutation in the gene encoding transferrin receptor 2 (TFR2) on chromosome 7. [13][14][15][16]67 Few spontaneous animal models exist to facilitate study of the mechanisms leading to iron accumulation and associated clinical complications, particularly in the extended preclinical phase. 25 Dietary models of iron overload exist in laboratory species, but they generally lack key clinical and morphologic features of HH.…”

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3

“…1,[4][5][6][7][8][9][10] Other HFE mutations are rare and usually private. [11][12][13] Few patients with severe, early-onset disease 14,15 have wild-type HFE and a distinct disorder, 16 which is linked to the long arm of chromosome 1 17 (juvenile hemochromatosis, hemochromatosis type 2, or HFE2). A new type of hemochromatosis (hemochromatosis type 3 or HFE3) has been recently characterized in 6 patients from 2 Italian families with a disorder linked to 7q22.…”

The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis

“…In contrast to the adult-onset classic type of HH, patients with juvenile types of HH which manifested as systemic iron overload in their early life, although very rare, have been reported [64][65][66]. Manifestations of this type of HH are severe and include hypogonadism, diabetes, and cardiomyopathy [67].…”