Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis-The Cardiological Point of View

被引:14
|
作者
Danilowicz-Szymanowicz, Ludmila [1 ]
Swiatczak, Michal [1 ]
Sikorska, Katarzyna [2 ]
Starzynski, Rafal R. [3 ]
Raczak, Alicja [4 ]
Lipinski, Pawel [3 ]
机构
[1] Med Univ Gdansk, Dept Cardiol & Electrotherapy, Debinki 7 St, PL-80211 Gdansk, Poland
[2] Med Univ Gdansk, Dept Trop Med & Epidemiol, Debinki 7 St, PL-80211 Gdansk, Poland
[3] Polish Acad Sci, Inst Genet & Anim Breeding, Dept Mol Biol, PL-05552 Wolka Kosowska, Jastrzebiec, Poland
[4] Med Univ Gdansk, Fac Hlth Sci, Clin Psychol Dept, PL-80211 Gdansk, Poland
关键词
hereditary hemochromatosis; HFE gene; heart damage; BETA-THALASSEMIA MAJOR; SPECKLE TRACKING ECHOCARDIOGRAPHY; ANTIMICROBIAL PEPTIDE HEPCIDIN; IRON-OVERLOAD; MYOCARDIAL DEFORMATION; CARDIAC INVOLVEMENT; CHELATION-THERAPY; CARDIOMYOPATHY; HEART; GENE;
D O I
10.3390/diagnostics11071279
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Hereditary hemochromatosis (HH) is a genetic disease leading to excessive iron absorption, its accumulation, and oxidative stress induction causing different organ damage, including the heart. The process of cardiac involvement is slow and lasts for years. Cardiac pathology manifests as an impaired diastolic function and cardiac hypertrophy at first and as dilatative cardiomyopathy and heart failure with time. From the moment of heart failure appearance, the prognosis is poor. Therefore, it is crucial to prevent those lesions by upfront therapy at the preclinical phase of the disease. The most useful diagnostic tool for detecting cardiac involvement is echocardiography. However, during an early phase of the disease, when patients do not present severe abnormalities in serum iron parameters and severe symptoms of other organ involvement, heart damage may be overlooked due to the lack of evident signs of cardiac dysfunction. Considerable advancement in echocardiography, with particular attention to speckle tracking echocardiography, allows detecting discrete myocardial abnormalities and planning strategy for further clinical management before the occurrence of substantial heart damage. The review aims to present the current state of knowledge concerning cardiac involvement in HH. In addition, it could help cardiologists and other physicians in their everyday practice with HH patients.
引用
收藏
页数:18
相关论文
共 48 条
  • [1] Cloning of the hereditary hemochromatosis gene: Implications for pathogenesis, diagnosis, and screening
    Himmelmann, A
    Fehr, J
    [J]. JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 1999, 133 (03): : 229 - 236
  • [2] Hereditary hemochromatosis, the clinician point of view
    Corberand, Joel
    Martinez, Patricia Aguilar
    Vinel, Jean-Pierre
    Dine, Gerard
    Michel, Henri
    [J]. ANNALES DE BIOLOGIE CLINIQUE, 2012, 70 (04) : 397 - 403
  • [3] Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment
    Pietrangelo, Antonello
    [J]. GASTROENTEROLOGY, 2010, 139 (02) : 393 - 408
  • [4] Hereditary hemochromatosis and liver transplantation: Implications for patient survival, graft function and the pathogenesis of hereditary hemochromatosis.
    Crawford, D
    Hubscher, S
    Stuart, K
    McCaughan, G
    Gane, E
    Angus, P
    Jeffrey, G
    Kerlin, P
    Powell, L
    Fletcher, L
    Elias, E
    [J]. HEPATOLOGY, 2002, 36 (04) : 194A - 194A
  • [5] CLINICAL-SIGNIFICANCE AND DIFFERENTIAL-DIAGNOSIS OF SYNCOPES FROM THE CARDIOLOGICAL POINT OF VIEW
    LUDERITZ, B
    [J]. MUNCHENER MEDIZINISCHE WOCHENSCHRIFT, 1988, 130 (30): : 553 - 554
  • [6] HEREDITARY HEMOCHROMATOSIS - PATHOGENESIS AND CLINICAL-FEATURES OF A COMMON DISEASE
    NICHOLS, GM
    BACON, BR
    [J]. AMERICAN JOURNAL OF GASTROENTEROLOGY, 1989, 84 (08): : 851 - 862
  • [7] Clinical implications of the genetic diagnosis of hemochromatosis
    Ortiz, V
    Berenguer, J
    [J]. MEDICINA CLINICA, 2001, 116 (03): : 98 - 99
  • [8] Hereditary hemochromatosis and diabetes mellitus: implications for clinical practice
    Utzschneider, Kristina M.
    Kowdley, Kris V.
    [J]. NATURE REVIEWS ENDOCRINOLOGY, 2010, 6 (01) : 26 - 33
  • [9] Hereditary hemochromatosis and diabetes mellitus: implications for clinical practice
    Kristina M. Utzschneider
    Kris V. Kowdley
    [J]. Nature Reviews Endocrinology, 2010, 6 : 26 - 33
  • [10] Patient and graft survival after liver transplantation for hereditary hemochromatosis: Implications for pathogenesis
    Crawford, DHG
    Fletcher, LM
    Hubscher, SG
    Stuart, KA
    Gane, E
    Angus, PW
    Jeffrey, GP
    McCaughan, GW
    Kerlin, P
    Powell, LW
    Elias, EE
    [J]. HEPATOLOGY, 2004, 39 (06) : 1655 - 1662