Cooray Shamil D, Heerasing Neel M, Selkrig Laura A, Subramaniam V Nathan, Hamblin P Shane, McDonald Cameron J, McLean Catriona A, McNamara Elissa, Leet Angeline S, Roberts Stuart K
Department of Endocrinology & Diabetes, The Alfred Hospital, Melbourne, VIC, 3004, Australia.
Department of Gastroenterology & Hepatology, The Alfred Hospital, Melbourne, VIC, 3004, Australia.
J Med Case Rep. 2018 Jan 26;12(1):18. doi: 10.1186/s13256-017-1526-6.
Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause.
A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocardial biopsy revealed cytoplasmic iron deposits in myocytes. His condition was stabilized with biventricular assist devices and he was listed for heart transplantation. Iron chelation therapy was commenced and resulted in rapid removal of iron burden. Serial outpatient echocardiograms demonstrated myocardial recovery such that a successful biventricular assist device explant occurred 131 days after initial implant. Targeted gene sequencing revealed a loss-of-function mutation within the HJV gene, which is consistent with juvenile hemochromatosis.
This rare case of a patient with juvenile hemochromatosis associated with a HJV mutation provides histologic evidence documenting the reversal of associated end-stage heart failure, requiring emergent mechanical circulatory support, with iron chelation therapy.
青少年血色病是铁过载表型最严重的形式。尽管罕见，但对于出现不明原因的低促性腺激素性性腺功能减退、糖尿病或心肌病的患者应怀疑此病。
一名出现终末期心力衰竭的年轻塞尔维亚男性被转诊接受体外膜肺氧合治疗。心内膜心肌活检显示心肌细胞中有细胞质铁沉积。通过双心室辅助装置使他的病情稳定下来，他被列入心脏移植名单。开始进行铁螯合治疗，铁负荷迅速减轻。系列门诊超声心动图显示心肌恢复，以至于在初次植入双心室辅助装置131天后成功将其取出。靶向基因测序显示HJV基因存在功能丧失突变，这与青少年血色病一致。
这例罕见的与HJV突变相关的青少年血色病患者病例提供了组织学证据，证明铁螯合疗法可逆转相关的终末期心力衰竭，而这种心力衰竭需要紧急机械循环支持。
