Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

  1. Gastroduodenal Changes Two Years After Eradication of Helicobacter pylori in a Population-Based Cohort

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Rationale and design of DanGer shock: Danish-German cardiogenic shock trial

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Sepsis-related Organ Failure Assessment Score is a strong predictor of survival in acute-on-chronic liver failure

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Plasma proteome profiling discovers novel proteins associated with non-alcoholic fatty liver disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genetic HFE-haemochromatosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

This paper outlines the Danish aspects of HFE-hemochromatosis, which is the most frequent genetic predisposition to iron overload in the five million ethnic Danes; more than 20,000 people are homozygous for the C282Y mutation and more than 500,000 people are compound heterozygous or heterozygous for the HFE-mutations. The disorder has a long preclinical stage with gradually increasing body iron overload and eventually 30% of men will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease and diabetes. Subsequently the disease may progress into irreversible arthritis, liver cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. The effective standard treatment is repeated phlebotomies, which in the preclinical and early clinical stages ensures a normal survival rate. Early detection of the genetic predisposition to the disorder is therefore important to reduce the overall burden of clinical disease. Population screening seems to be cost-effective and should be considered.

OriginalsprogEngelsk
TidsskriftGastroenterology Research
Vol/bind12
Udgave nummer5
Sider (fra-til)221-232
Antal sider12
ISSN1918-2805
DOI
StatusUdgivet - okt. 2019

Bibliografisk note

Copyright 2019, Milman et al.

ID: 58188859