Subject:
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IGMD 5: Health aging / healthy living IGMD 7: Iron metabolism N4i 1: Pathogenesis and modulation of inflammation NCEBP 14: Cardiovascular diseases NCEBP 1: Molecular epidemiology NCEBP 2: Evaluation of complex medical interventions ONCOL 3: Translational research ONCOL 5: Aetiology, screening and detection UMCN 1.5: Interventional oncology UMCN 2.2: Vascular medicine and diabetes UMCN 5.1: Genetic defects of metabolism |
Organization:
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Clinical Chemistry Health Evidence Internal Medicine Radboudumc Extern |
Former Organization:
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Epidemiology, Biostatistics & HTA
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Journal title:
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Netherlands Journal of Medicine
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Abstract:
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HFE-related hereditary haemochromatosis (HH) is an iron overload disease attributed to the highly prevalent homozygosity for the C282Y mutation in the HFE gene. The pathophysiology of this error in iron metabolism is not completely elucidated yet, although deficiency of the iron regulatory hormone hepcidin appears to play a role. Ways of diagnosing iron overload include measurement of the serum iron parameters, i.e. serum transferrin saturation and serum ferritin, by a liver biopsy or by calculating the amount of mobilisable body iron withdrawn by phlebotomies. Clinical signs attributed to HFE-related HH include liver failure, arthralgia, chronic fatigue, diabetes mellitus and congestive heart failure. organ failure can be prevented by phlebotomies starting before irreversible damage has occurred. Therefore, screening to facilitate early diagnosis is desirable in individuals at risk of developing HFE-related iron overload. over time it appeared that the clinical penetrance of the HFE mutations was much lower than had previously been thought. This changed the opinion about a suitable screening modality from case detection, via population screening, to family screening as the most appropriate method to prevent HFE-related disease. However, before the implementation of family screening it is vital to have thorough information on the relevance of the specific health problem involved, on the clinical penetrance of C282Y homozygosity and on the effectiveness of the screening approach.
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