Iron overload and cirrhosis in referred HFE p.C282Y homozygotes with normal transferrin saturation and elevated serum ferritin
| Autor: | Paul C. Adams, James C. Barton |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Normal transferrin saturation medicine.medical_specialty Cirrhosis Transferrin saturation Chemistry Elevated transferrin saturation General Medicine medicine.disease Elevated serum ferritin Elevated hepatic iron concentration 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Internal medicine medicine 030211 gastroenterology & hepatology Hemochromatosis Original Research |
| Zdroj: | Can Liver J |
| ISSN: | 2561-4444 |
| Popis: | Background: Elevated transferrin saturation (TS) is an imperfect test to identify adults with high-iron gene ( HFE) p.C282Y homozygosity or elevated hepatic iron concentration. Methods: We analyzed observations of non-screening, previously untreated p.C282Y homozygotes who presented with both normal TS (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: Among 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. |
| Databáze: | OpenAIRE |
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