Zinecker Kevin Alexander, Sliwinska Aleksandra, Wilson Leah M, Zahr Roula
Department of Internal Medicine, Oregon Health Sciences University Hillsboro Medical Center, Hillsboro, OR 97123, USA.
Department of Endocrinology Diabetes and Clinical Nutrition, Oregon Health Sciences University, Portland, OR 97239, USA.
JCEM Case Rep. 2024 Oct 24;2(11):luae196. doi: 10.1210/jcemcr/luae196. eCollection 2024 Nov.
Juvenile hemochromatosis (JH) is a subtype of hereditary hemochromatosis, a genetic disorder characterized by excessive iron absorption and deposition in various organs, leading to cardiomyopathy, cirrhosis, and diabetes. Endocrine dysfunction is a common manifestation and may appear years before end-organ damage. This report describes a rare case of JH, emphasizing the consequences of delayed diagnosis. A 28-year-old woman with a history of hypogonadotropic hypogonadism presented with cardiac arrest complicated by acute renal failure and cerebral vascular accidents. She initially exhibited signs of severe cardiomyopathy and multiorgan failure, which led to workup for an underlying cause. Laboratory values showed significantly elevated ferritin and transferrin saturation. Subsequent genetic screening revealed gene pathogenic variants consistent with juvenile hemochromatosis. Treatment involved aggressive iron chelation therapy and outpatient referral for cardiac transplant. This case calls for heightened awareness and early screening of JH, particularly among patients with unexplained endocrine dysfunction. Early diagnosis and treatment are paramount in preventing irreversible organ damage and improving patient outcomes.
青少年血色素沉着症（JH）是遗传性血色素沉着症的一种亚型，是一种遗传性疾病，其特征是铁吸收过多并沉积在各个器官中，导致心肌病、肝硬化和糖尿病。内分泌功能障碍是一种常见表现，可能在终末器官损害出现前数年就已出现。本报告描述了一例罕见的青少年血色素沉着症病例，强调了延迟诊断的后果。一名有低促性腺激素性性腺功能减退病史的28岁女性出现心脏骤停，并伴有急性肾衰竭和脑血管意外。她最初表现出严重心肌病和多器官功能衰竭的症状，这促使对潜在病因进行检查。实验室检查结果显示铁蛋白和转铁蛋白饱和度显著升高。随后的基因筛查发现了与青少年血色素沉着症一致的基因致病性变异。治疗包括积极的铁螯合治疗和转至门诊进行心脏移植评估。该病例提醒人们提高对青少年血色素沉着症的认识并进行早期筛查，特别是在患有不明原因内分泌功能障碍的患者中。早期诊断和治疗对于预防不可逆的器官损害和改善患者预后至关重要。
