دورية أكاديمية
Hereditary hemochromatosis: data from a single center Copenhagen cohort.
| العنوان: | Hereditary hemochromatosis: data from a single center Copenhagen cohort. |
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| المؤلفون: | Therkildsen R; Division of Gastroenterology, Digestive Disease Center K, Bispebjerg Hospital, Copenhagen, NV, Denmark., Dahl EE; Division of Gastroenterology, Digestive Disease Center K, Bispebjerg Hospital, Copenhagen, NV, Denmark., Schiødt FV; Division of Gastroenterology, Digestive Disease Center K, Bispebjerg Hospital, Copenhagen, NV, Denmark. |
| المصدر: | Scandinavian journal of gastroenterology [Scand J Gastroenterol] 2022 Aug; Vol. 57 (8), pp. 972-977. Date of Electronic Publication: 2022 Mar 07. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 0060105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1502-7708 (Electronic) Linking ISSN: 00365521 NLM ISO Abbreviation: Scand J Gastroenterol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Oslo : Universitetsforlager |
| مواضيع طبية MeSH: | Hemochromatosis*/diagnosis , Hemochromatosis*/genetics, Female ; Ferritins ; Hemochromatosis Protein ; Histocompatibility Antigens Class I ; Humans ; Male ; Membrane Proteins ; Retrospective Studies |
| مستخلص: | Objectives: We aimed to describe a cohort of hereditary hemochromatosis (HH) patients from a single urban center in Copenhagen. Methods: Retrospectively, data from patients with HH from the years 2009-2020 were collected. Results: A total of 203 patients was recorded. Males constituted 65.0% of the patients. Homozygous HH (HHH)/compound heterozygous HH (CHH) accounted for 69.4%/30.6%. HHH patients had significantly higher ferritin and transferrin saturation (TS) levels at debut than CHH patients. Fifty-five HHH patients (39.0%) had ferritin >1000 ug/L versus 9 (14.5%) in the CHH group ( p < .001). Age at debut did not differ between female and male patients. Ferritin (but not TS) levels were significantly higher in male patients. The proportion of patients with ferritin >1000 did not differ between males and females. One-hundred patients (49.3%) had one or more symptoms at the time of diagnosis; arthralgias of the metacarpophalangeal joints and/or ankles ( n = 46 (22.7%)), fatigue ( n = 67 (33.0%)) and decreased libido ( n = 20 (9.9%)). The proportion of patients with symptoms did not differ between HHH and CHH or between male and female patients. Severe organ complications (cardiomyopathy, late onset type 1 diabetes or cirrhosis) were present in 14 patients (6.9%). Conclusions: We report a high proportion of compound HH, constituting almost one-third of patients. We found that the proportion of patients with symptoms did not differ between HHH and CHH and recommend that CHH should be treated and examined in the same way as HHH. |
| فهرسة مساهمة: | Keywords: Denmark Scandinavia; HFE; Hemochromatosis; cohort single center |
| المشرفين على المادة: | 0 (Hemochromatosis Protein) 0 (Histocompatibility Antigens Class I) 0 (Membrane Proteins) 9007-73-2 (Ferritins) |
| تواريخ الأحداث: | Date Created: 20220307 Date Completed: 20220728 Latest Revision: 20220730 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1080/00365521.2022.2042591 |
| PMID: | 35249441 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1502-7708 |
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| DOI: | 10.1080/00365521.2022.2042591 |