Hereditary hemochromatosis (HH) is a genetic disorder in which mutations affect systemic iron homeostasis. Most subtypes of HH result in low hepcidin levels and iron overload. Accumulation of iron in various tissues can lead to widespread organ damage and to various complications, including liver cirrhosis, arthritis, and diabetes. Osteoporosis is another frequent complication of HH, and the underlying mechanisms are poorly understood. Currently, it is unknown whether iron overload in HH directly damages bone or whether complications associated with HH, such as liver cirrhosis or hypogonadism, affect bone secondarily. This review summarizes current knowledge of bone metabolism in HH and highlights possible implications of metabolic dysfunction in HH-driven bone loss. We further discuss therapeutic considerations managing osteoporosis in HH.

遗传性血色素沉着症 (HH) 是一种遗传性疾病，其中突变影响全身铁稳态。大多数 HH 亚型导致低铁调素水平和铁过载。各种组织中铁的积累会导致广泛的器官损伤和各种并发症，包括肝硬化、关节炎和糖尿病。骨质疏松症是 HH 的另一个常见并发症，其潜在机制知之甚少。目前，尚不清楚 HH 中的铁过载是否直接损害骨骼，或者与 HH 相关的并发症，如肝硬化或性腺功能减退是否会继发影响骨骼。这篇综述总结了目前关于 HH 骨代谢的知识，并强调了代谢功能障碍对 HH 驱动的骨丢失的可能影响。我们进一步讨论了管理 HH 骨质疏松症的治疗注意事项。