Dataset Information

Iron overload and cirrhosis in referred HFE p.C282Y homozygotes with normal transferrin saturation and elevated serum ferritin.

ABSTRACT:

Background

levated transferrin saturation (TS) is an imperfect test to identify adults with high-iron gene (HFE) p.C282Y homozygosity or elevated hepatic iron concentration.

Methods

e analyzed observations of non-screening, previously untreated p.C282Y homozygotes who presented with both normal TS (<50% men, <45% women) and elevated serum ferritin (SF; men, >300 µg/L; women, >200 µg/L). Iron overload was defined as hepatocyte iron grade 3 or 4, liver iron >35 µmol/g dry weight, or iron removed by phlebotomy ≥3 g. Cirrhosis was defined as regenerating nodules of hepatocytes surrounded by bands of fibrous connective tissue.

Results

mong 917 referred p.C282Y homozygotes, 58 (33 men, 25 women) had normal TS and elevated SF (6.3% [95% CI 4.9% to 8.1%]). Of 58 patients, 14 (24.1%) underwent liver biopsy; all 14 had hepatocyte iron grade 3 or 4. Fatty infiltration was reported in 6 of 14 liver biopsies (42.9%). Liver iron was >35 µmol/g dry weight in 7 of 8 patients tested (87.5%). Iron removed by phlebotomy was ≥3 g in 75.0% (15/20) of men and 62.5% (5/8) of women. Of 58 patients, 3 (5.2%) had iron overload and cirrhosis; each also had a proven or possible non-iron liver condition that may have acted in synergy with liver iron to increase cirrhosis risk.

Conclusions

Iron overload is common in non-screening, previously untreated HFE p.C282Y homozygotes with normal TS and elevated SF. Among our sample, 5.2% had cirrhosis. Clinicians should not assume that patients with normal TS and elevated SF do not have HFE p.C282Y homozygosity, iron overload, or cirrhosis.

SUBMITTER: Adams PC

PROVIDER: S-EPMC9202789 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

Iron overload and cirrhosis in referred <i>HFE</i> p.C282Y homozygotes with normal transferrin saturation and elevated serum ferritin.

Adams Paul C PC Barton James C JC

Canadian liver journal 20200604 2

<h4>Background</h4>levated transferrin saturation (TS) is an imperfect test to identify adults with high-iron gene (<i>HFE</i>) p.C282Y homozygosity or elevated hepatic iron concentration.<h4>Methods</h4>e analyzed observations of non-screening, previously untreated p.C282Y homozygotes who presented with both normal TS (<50% men, <45% women) and elevated serum ferritin (SF; men, >300 µg/L; women, >200 µg/L). Iron overload was defined as hepatocyte iron grade 3 or 4, liver iron >35 µmol/g dry wei ...[more]

PMID: 35991852

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