Aşırı demir yüklenmesi ve hemokromatozis

Year 2023, Volume: 22 Issue: 3, 155 - 159, 22.12.2023

Halil Atasoy Gökhan Aydın

https://doi.org/10.17941/agd.1338597

Abstract

Giriş ve Amaç: Uzun süreli (on yıl) takip ettiğimiz aşırı demir yüklenmesi ve hemokromatozis olgularımız ışığında ortaya çıkan bulguları, tanı ve tedavideki zorlukları ve eksik yanlarımızı değerlendirmeyi amaçladık. Gereç ve Yöntem: 2012-2022 yılları arasında takip ettiğimiz, aşırı demir birikimi olan hastalar bilgisayar kayıtlarından retrospektif olarak değerlendirildi. Transferrin satürasyonu %45’ten yüksek ve serum ferritin düzeyleri erkeklerde 300 ng/dl, kadınlarda 200 ng/dl’den yüksek olan toplam 28 hasta saptandı. Hastalarda hemokromatozis için genetik testler yapıldı. Genetik testlerin pozitif veya negatif oluşuna göre hastalar analiz edildi. Bulgular: Toplam 28 hastadan 17’si H63D heterozigot, bir hasta H63D homozigot olarak bulundu. C282Y ve non-HFE hemokromatozise ait gen mutasyonu saptanmadı. On hastada herhangi bir mutasyon saptanmadı. Yirmi sekiz hastanın tümünde transferrin satürasyonu %45’ten büyük ve ferritin düzeyi 300 ng/dl’den yüksekti. H63D heterozigot bulunanların 10’unda (%58.8), mutasyon saptanmayanların 5’inde (%50) hepatosteatoz saptandı. Heterozigot pozitif olan grupta mutasyon saptanmayanlara göre demir birikimi biraz daha yüksekti (ortalama ferritin düzeyi 1478 ng/dl’ye 827ng/dl). Hastaların hepsinde hepatit B yüzey antijeni negatifti. Bir hastada anti-hepatit C virüsü pozitifti. Magnetik rezonans çekilen 16 hastada demir yüklenmesi düşündüren sinyal kaybı bulgusu bildirilmedi. Still hastalığına ilişkin ateş, artralji gibi bir bulgu saptanmadı. Sonuçlar: Aşırı demir yüklenmesi sık karşılaşılan bir durum olmamakla birlikte saptandığında ayırıcı tanısı zordur. Herediter hemokromatozis ve non-HFE hemokromatozis bunların çok az bir kısmını oluşturur. Bulgularımız aşırı demir birikmesinin en sık sebeplerinden birinin non-alkolik yağlı karaciğer hastalığına bağlı olduğunu göstermektedir.

Keywords

Aşırı demir birikimi, hemokromatozis, genetik test

Iron overload and hemochromatosis

Abstract

Background and Aims: We aimed to evaluate the findings, difficulties in diagnosis and treatment, and our shortcomings in the light of iron overload and hemochromatosis cases that we followed for a long time (ten years). Materials and Methods: Patients with excessive iron overload that we followed between 2012 and 2022 were evaluated retrospectively from computer records. A total of 28 patients with transferrin saturation higher than 45% and serum ferritin levels higher than 300 ng/dl in men and 200 ng/dl in women were detected. Genetic testing for hemochromatosis was performed on the patients. Patients were analyzed according to whether the genetic tests were positive or negative. Results: Of the 17 of 28 patients were H63D heterozygous and 1 was H63D homozygous. No gene mutations of C282Y and non-HFE hemochromatosis were detected. No mutation was detected in 10 patients. Transferrin saturation was greater than 45 percent and ferritin level was higher than 300 ng/dl in all 28 patients. No patient received blood transfusion. Hepatosteatosis was detected in 10 (58.8%) of those with H63D heterozygous and 5 (50%) of those without mutation. Iron accumulation was slightly higher in the heterozygous positive group than in those without mutations (mean ferritin level 1478 ng/dl vs. 827 ng/dl). All patients were negative for hepatitis B surface antigen. One patient was anti-hepatitis C virus positive. Signal loss suggestive of iron overload was not reported in 16 patients who underwent magnetic resonance imaging. There was no finding related to Still's disease such as fever or arthralgia. Conclusions: Although iron overload is not a common condition, its differential diagnosis is difficult when detected. Hereditary hemochromatosis and non-HFE hemochromatosis constitute only a small part of them. Our findings show that one of the most common causes of excessive iron accumulation is due to non-alcoholic fatty liver disease.

Keywords

Iron overload, hemochromatosis, genetic testing

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