Juvenile hemochromatosis HJV-related revealed by cardiogenic shock.
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 (Arg288 > 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.
Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, Assistance Publique/Hôpitaux de Paris, Paris, France.
Mounir
M
Filali
Claire
C
Le Jeunne
Eric
E
Durand
Jean-Michel
JM
Grinda
Antonella
A
Roetto
Filomena
F
Daraio
Patrick
P
Bruneval
Xavier
X
Jeunemaitre
Anne-Paule
AP
Gimenez-Roqueplo
D000328:Adult; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D012770:Shock, Cardiogenic / Q000209:etiology*
D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins