Department of Tropical Medicine and Epidemiology, Chair of Tropical Medicine and Parasitology, Institute of Martime and Tropical Medicine Gdynia, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland.
Department of Tropical and Parasitic Diseases, Chair of Tropical Medicine and Parasitology, Institute of Martime and Tropical Medicine Gdynia, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland.
Genes (Basel). 2021 Aug 25;12(9):1304. doi: 10.3390/genes12091304.
Type 1 hereditary hemochromatosis (HH) is an autosomal, recessive genetic entity with systemic iron overload. Iron homeostasis disorders develop as a result of gene mutations, which are associated with hepcidin arthropathy or osteoporosis and may cause permanent disability in HH patients despite a properly conducted treatment with phlebotomies. In this study, selected parameters of calcium and phosphate metabolism were analyzed in combination with the assessment of bone mineral density (BMD) disorders in patients from northern Poland with clinically overt -HH. BMD was determined by a dual-energy X-ray absorptiometry (DXA) test with the use of the trabecular bone score (TBS) function. The study included 29 HH patients (mean age = 53.14 years) who were compared with 20 healthy volunteers. A significantly lower TBS parameter and serum 25-OH-D3 concentration, a higher concentration of intact parathormone and more a frequent occurrence of joint pain were found in HH patients compared with the control group. In HH patients, the diagnosis of liver cirrhosis was associated with lower serum 25-OH-D3 and osteocalcin concentrations. In HH, DXA with the TBS option is a valuable tool in the early assessment of the bone microarchitecture and fracture risk. A supplementation of vitamin D, monitoring its concentration, should be considered especially in HH patients with liver damage and liver cirrhosis.
1 型遗传性血色素沉着症(HH)是一种常染色体隐性遗传的全身性铁过载疾病。铁稳态紊乱是由于基因突变引起的,基因突变与铁调素关节病或骨质疏松症有关,尽管进行了适当的放血治疗,但 HH 患者仍可能永久性残疾。在这项研究中,对波兰北部临床显性 HH 患者的钙和磷酸盐代谢的选定参数进行了分析,并结合骨密度(BMD)紊乱的评估。BMD 通过双能 X 射线吸收法(DXA)测试确定,使用小梁骨评分(TBS)功能。该研究包括 29 名 HH 患者(平均年龄=53.14 岁),并与 20 名健康志愿者进行了比较。与对照组相比,HH 患者的 TBS 参数和血清 25-OH-D3 浓度较低,完整甲状旁腺素浓度较高,关节痛更常见。在 HH 患者中,肝硬化的诊断与血清 25-OH-D3 和骨钙素浓度降低有关。在 HH 中,带有 TBS 选项的 DXA 是早期评估骨微结构和骨折风险的有价值工具。应考虑补充维生素 D,监测其浓度,尤其是在有肝损伤和肝硬化的 HH 患者中。