Juvenile hemochromatosis HJV-related revealed by cardiogenic shock

Abstract

Hemochromatosis is a heterogeneous genetic disease. Juvenile hemochromatosis is a severe rare recessive autosomal disease. Herein, we report a consanguineous family linked to a mutation in the recently identified HJV gene. A refractory cardiogenic shock had revealed hemochromatosis in the proband, a 26-year-old woman, and led to the death by heart failure. Regular phlebotomies in her young sister, which was also affected, had allowed to prevent the severe complications of the disease. These two affected subjects presented an identical homozygous haplotype at the 1q21 chromosome region and a missense homozygous mutation at the HJV gene (Arg 288 > Trp). This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications.