The Haemochromatosis

被引：55

作者：

Adams, Paul C. ^{[1
]}

Jeffrey, Gary ^{[2
]}

Ryan, John ^{[3
]}

机构：

[1] Western Univ, Schulich Sch Med & Dent, Dept Med, London, ON N6A 2E8, Canada

[2] Univ Western Australia, Med Sch, Perth, WA, Australia

[3] Royal Coll Surgeons Ireland, Dublin, Ireland

来源：

LANCET | 2023年 / 401卷 / 10390期

关键词：

IRON-OVERLOAD; HEREDITARY HEMOCHROMATOSIS; GENETIC HEMOCHROMATOSIS; NONINVASIVE PREDICTION; C282Y HOMOZYGOSITY; CRYSTAL-STRUCTURE; SERUM FERRITIN; PROTEIN HFE; BODY IRON; LIVER;

D O I：

10.1016/S0140-6736(23)00287-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and is underdiagnosed in many patients. Early diagnosis by genetic testing and therapy by periodic phlebotomy can prevent the most serious complications, which include liver cirrhosis, liver cancer, and death. This Seminar includes an update on the origins of haemochromatosis; and an overview pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.

引用

页码：1811 / 1821

页数：11

共 89 条

[1] Hepatocellular Carcinoma in Hemochromatosis: Where or When? [J].

Adams, Paul C. .

DIGESTIVE DISEASES AND SCIENCES, 2023, 68 (01) :12-13

[2] Survival and development of health conditions after iron depletion therapy in C282Y-linked hemochromatosis patients [J].

Adams, Paul C. ;

Richard, Lucie ;

Weir, Matthew ;

Speechley, Mark .

CANADIAN LIVER JOURNAL, 2021, 4 (04) :381-390

[3] Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study [J].

Adams, Paul C. ;

Speechley, Mark ;

Barton, James C. ;

McLaren, Christine E. ;

McLaren, Gordon D. ;

Eckfeldt, John H. .

HEPATOLOGY, 2012, 55 (06) :1722-1726

[4] Biological variability of transferrin saturation and unsaturated iron-binding capacity [J].

Adams, Paul C. ;

Reboussin, David M. ;

Press, Richard D. ;

Barton, James C. ;

Acton, Ronald T. ;

Moses, Godfrey C. ;

Leiendecker-Foster, Catherine ;

McLaren, Gordon D. ;

Dawkins, Fitzroy W. ;

Gordeuk, Victor R. ;

Lovato, Laura ;

Eckfeldt, John H. .

AMERICAN JOURNAL OF MEDICINE, 2007, 120 (11) :999.e1-999.e7

[5] HFE C282Y Homozygosity Is Associated With Lower Total and Low-Density Lipoprotein Cholesterol The Hemochromatosis and Iron Overload Screening Study [J].

Adams, Paul C. ;

Pankow, James S. ;

Barton, James C. ;

Acton, Ron T. ;

Leiendecker-Foster, Cathie ;

McLaren, Gordon D. ;

Speechley, Mark ;

Eckfeldt, John H. .

CIRCULATION-CARDIOVASCULAR GENETICS, 2009, 2 (01) :34-37

[6] The Natural History of Untreated HFE-Related Hemochromatosis [J].

Adams, Paul C. .

ACTA HAEMATOLOGICA, 2009, 122 (2-3) :134-139

[7]

Adams PC, 1996, J RHEUMATOL, V23, P707

[8] Hemochromatosis and iron-overload screening in a racially diverse population [J].

Adams, PC ;

Reboussin, DM ;

Barton, JC ;

McLaren, CE ;

Eckfeldt, JH ;

McLaren, GD ;

Dawkins, FW ;

Acton, RT ;

Harris, EL ;

Gordeuk, VR ;

Leiendecker-Foster, C ;

Speechley, M ;

Snively, BM ;

Holup, JL ;

Thomson, E ;

Sholinsky, P ;

Acton, RT ;

Barton, JC ;

Dixon, D ;

Rivers, CA ;

Tucker, D ;

Ware, JC ;

McLaren, CE ;

McLaren, GD ;

Anton-Culver, H ;

Baca, JA ;

Bent, TC ;

Brunner, LC ;

Dao, MM ;

Jorgensen, KS ;

Kuniyoshi, J ;

Le, HD ;

Masatsugu, MK ;

Meyskens, FL ;

Morohashi, D ;

Nguyen, HP ;

Panagon, SN ;

Phung, C ;

Raymundo, V ;

Ton, T ;

Walker, AP ;

Wenzel, LB ;

Ziogas, A ;

Adams, PC ;

Bloch, E ;

Chakrabarti, S ;

Fleischhauer, A ;

Harrison, H ;

Jia, K ;

Larson, S .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (17) :1769-1778

[9] Hemochromatosis case definition: out of focus? [J].

Adams, PC .

NATURE CLINICAL PRACTICE GASTROENTEROLOGY & HEPATOLOGY, 2006, 3 (04) :178-179

[10] RATE OF IRON REACCUMULATION FOLLOWING IRON DEPLETION IN HEREDITARY HEMOCHROMATOSIS - IMPLICATIONS FOR VENESECTION THERAPY [J].

ADAMS, PC ;

KERTESZ, AE ;

VALBERG, LS .

JOURNAL OF CLINICAL GASTROENTEROLOGY, 1993, 16 (03) :207-210

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