Hereditary hemochromatosis (HHC) is characterized by excessive intestinal iron absorption resulting in a pathological increase of iron levels. Parenchyma damage may be a consequence of iron deposition in affected organs (e.g., liver, pancreas, gonads) as well as bones and joints, leading to osteoporosis with increased fracture risk and arthropathy. Up to date, it is not known whether HHC can also be considered as a risk factor for osteonecrosis. Likewise, the underlying skeletal changes are unknown regarding, e.g., microstructural properties of bone. We aimed to study the spectrum of skeletal complications in HHC and the possible underlying microarchitectural changes. Therefore, we retrospectively analyzed all patients with HHC (n = 10) presenting in our outpatient clinic for bone diseases. In addition to dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT) was performed and bone turnover markers, 25-OH-D3, ferritin and transferrin saturation were measured. Cortical volumetric bone mineral density (Ct.BMD) and cortical thickness (Ct.Th) were reduced, whereas trabecular microstructure (Tb.Th) and volumetric bone mineral density (Tb.BMD) were preserved compared to age- and gender-adjusted reference values from the literature. Interestingly, the occurrence of bone complications was age dependent; while younger patients presented with osteonecroses or transient bone marrow edema, patients older than 65 years presented with fractures. Our study provides first insights into altered bone microarchitecture in HHC and sheds new light on the occurrence of osteonecrosis. If available, HR-pQCT is a useful complement to fracture risk assessment and to determine microstructural deterioration and volumetric bone mineralization deficits.

中文翻译：

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遗传性血色素沉着症和骨骼并发症患者的骨微结构受损。

遗传性血色素沉着病（HHC）的特征是肠内铁的过度吸收，导致铁水平的病理性升高。实质损害可能是铁在受影响的器官（例如，肝脏，胰腺，性腺）以及骨骼和关节中沉积的结果，导致骨质疏松，骨折风险和关节炎增加。迄今为止，还不知道HHC是否也可以被认为是骨坏死的危险因素。同样，关于例如骨骼的微结构特性，潜在的骨骼变化也是未知的。我们旨在研究HHC中骨骼并发症的范围以及潜在的潜在微结构变化。因此，我们回顾性分析了在我们的骨科门诊就诊的所有HHC患者（n = 10）。除了双能X射线吸收仪（DXA），进行了高分辨率外周定量计算机断层扫描（HR-pQCT），并测量了骨转换指标，25-OH-D3，铁蛋白和转铁蛋白饱和度。与年龄和性别调整后的参考相比，皮质骨的骨矿物质密度（Ct.BMD）和皮质厚度（Ct.Th）降低，而小梁微结构（Tb.Th）和骨矿物质的体积密度（Tb.BMD）被保留。来自文学的价值观。有趣的是，骨骼并发症的发生与年龄有关。年轻的患者出现骨坏死或短暂性骨髓水肿，而65岁以上的患者出现骨折。我们的研究为HHC中改变的骨微结构提供了第一见解，并为骨坏死的发生提供了新的思路。如果可供使用的话，