Bhuva Meha, Patterson Ilse, Godfrey Edmund M, Bowden David J, Griffiths William J H
Department of Hepatology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, USA.
Department of Radiology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, USA.
Dig Dis Sci. 2023 Jun;68(6):2704-2709. doi: 10.1007/s10620-023-07873-w. Epub 2023 Mar 17.
The clinical benefit of venesection in suspected iron overload can be unclear and serum ferritin may overestimate the degree of iron overload.
To help inform practice, we examined magnetic resonance liver iron concentration (MRLIC) in a cohort investigated for haemochromatosis.
One hundred and six subjects with suspected haemochromatosis underwent HFE genotyping and MRLIC with time-matched serum ferritin and transferrin saturation values. For those treated with venesection, volume of blood removed was calculated as a measure of iron overload.
Forty-seven C282Y homozygotes had median ferritin 937 µg/l and MRLIC 4.83 mg/g; MRLIC was significantly higher vs non-homozygotes for any given ferritin concentration. No significant difference in MRLIC was observed between homozygotes with and without additional risk factors for hyperferritinemia. Thirty-three compound heterozygotes (C282Y/H63D) had median ferritin 767 µg/l and MRLIC 2.58 mg/g; ferritin < 750 µg/l showed 100% specificity for lack of significant iron overload (< 3.2 mg/g). 79% of C282Y/H63D had additional risk factors-mean MRLIC was significantly lower in this sub-group (2.4 mg/g vs 3.23 mg/g). 26 C282Y heterozygous or wild-type had median ferritin 1226 µg/l and MRLIC 2.13 mg/g; 69% with additional risk factors had significantly higher ferritin concentrations (with comparable MRLIC) and ferritin < 1000 µg/l showed 100% specificity for lack of significant iron overload. In 31 patients (26 homozygotes, 5 C282Y/H63D) venesected to ferritin < 100 µg/l, MRLIC and total venesection volume correlated strongly (r = 0.749), unlike MRLIC and serum ferritin.
MRLIC is an accurate marker of iron overload in haemochromatosis. We propose serum ferritin thresholds in non-homozygotes which, if validated, could tailor cost-effective use of MRLIC in venesection decision-making.
静脉放血疗法对疑似铁过载患者的临床益处可能并不明确，且血清铁蛋白可能高估铁过载的程度。
为指导临床实践，我们对一组接受血色素沉着症调查的人群进行了肝脏铁浓度磁共振成像（MRLIC）检测。
106例疑似血色素沉着症患者接受了HFE基因分型及MRLIC检测，并同时检测了血清铁蛋白和转铁蛋白饱和度。对于接受静脉放血治疗的患者，计算放血总量以衡量铁过载程度。
47例C282Y纯合子患者的铁蛋白中位数为937μg/l，MRLIC为4.83mg/g；在任何给定的铁蛋白浓度下，其MRLIC均显著高于非纯合子患者。在伴有和不伴有高铁蛋白血症额外危险因素的纯合子患者中，未观察到MRLIC有显著差异。33例复合杂合子（C282Y/H63D）患者的铁蛋白中位数为767μg/l，MRLIC为2.58mg/g；铁蛋白<750μg/l对无显著铁过载（<3.2mg/g）具有100%的特异性。79%的C282Y/H63D患者有额外危险因素，该亚组的平均MRLIC显著较低（2.4mg/g对3.23mg/g）。26例C282Y杂合子或野生型患者的铁蛋白中位数为1226μg/l，MRLIC为2.13mg/g；69%有额外危险因素的患者铁蛋白浓度显著更高（MRLIC相当），铁蛋白<1000μg/l对无显著铁过载具有100%的特异性。在31例（26例纯合子，5例C282Y/H63D）静脉放血至铁蛋白<100μg/l的患者中，MRLIC与放血总量密切相关（r = 0.749），而MRLIC与血清铁蛋白之间无此相关性。
MRLIC是血色素沉着症中铁过载的准确标志物。我们提出了非纯合子患者的血清铁蛋白阈值，若得到验证，可在静脉放血决策中合理使用MRLIC以降低成本。
