title: Health check-ups and family screening allow detection of hereditary hemochromatosis with less advanced liver fibrosis and survival comparable with the general population.
abstract: OBJECTIVE
  The information concerning the morbidity and mortality of hereditary hemochromatosis is based primarily on clinical cohorts of symptomatic patients. The major aim of this study was to analyze the long-term prognosis for Swedish patients with this condition, with respect to both clinical features and survival, in relation to the route by which the disease was detected.
  
  
  METHODS
  373 patients with hemochromatosis detected through routine health check-ups (n = 153), family screening (n = 44), symptoms of arthralgia (n = 23), investigation of other diseases/symptoms (n = 108) or signs of liver disease (n = 45) were monitored for a mean period of 11.9 ± 5.8 years. The degree of liver fibrosis and survival were analyzed.
  
  
  RESULTS
  Overall survival among these patients was not significantly different from that of a matched normal population. The patients diagnosed through health check-ups and family screening were detected at an earlier age and had the highest rate of survival. Liver biopsy at the time of diagnosis revealed cirrhosis in 9% of those detected through the health check-ups and 5% in the case of family screening, compared with 13% for the group with arthralgia, 17% for other diseases/symptoms and 42% for liver disease.
  
  
  CONCLUSIONS
  Health check-ups and family screening allow detection of hereditary hemochromatosis at an earlier age and with less advanced liver fibrosis, although a few of these patients have already developed cirrhosis. Our study indicates that iron indices should be included in health check-ups, and if abnormal, should lead to further investigation.
authors.affiliation: Department of Gastroenterology, Karolinska University Hospital/Karolinska Institutet, Stockholm, Sweden. soo.aleman@ki.se
authors.forename: Soo
authors.initials: S
authors.lastname: Aleman
authors.forename: Sanam
authors.initials: S
authors.lastname: Endalib
authors.forename: Per
authors.initials: P
authors.lastname: Stål
authors.forename: Lars
authors.initials: L
authors.lastname: Lööf
authors.forename: Stefan
authors.initials: S
authors.lastname: Lindgren
authors.forename: Hanna
authors.initials: H
authors.lastname: Sandberg-Gertzén
authors.forename: Sven
authors.initials: S
authors.lastname: Almer
authors.forename: Sigvard
authors.initials: S
authors.lastname: Olsson
authors.forename: Ake
authors.initials: A
authors.lastname: Danielsson
authors.forename: Sven
authors.initials: S
authors.lastname: Wallerstedt
authors.forename: Rolf
authors.initials: R
authors.lastname: Hultcrantz
mesh_terms: D000328:Adult; D000368:Aged; D018771:Arthralgia / Q000150:complications; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005221:Fatigue / Q000150:complications; D005260:Female; D005293:Ferritins / Q000097:blood; D005500:Follow-Up Studies; D006432:Hemochromatosis / Q000097:blood* / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood; D053208:Kaplan-Meier Estimate; D008103:Liver Cirrhosis / Q000150:complications* / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010808:Physical Examination; D011379:Prognosis; D016016:Proportional Hazards Models; D013548:Sweden; D014168:Transferrin / Q000378:metabolism
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron