Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles

Proton pump inhibitors decrease phlebotomy need in HFE hemochromatosis: double-blind randomized placebo-controlled trial

Phlebotomy constitutes the established treatment for HFE-related hemochromatosis. Retrospective studies have suggested proton pump inhibitors (PPIs) reduce the need for phlebotomy in this population. We conducted a randomized controlled trial to prove this. Thirty p.C282Y homozygous patients were randomly allocated to PPI (pantoprazole 40 mg/day) or placebo for 12 months. Phlebotomies were performed when serum ferritin was > 100 μg/L. Phlebotomy need turned out to be significantly lower in patients taking PPI (P = .0052). PPI treatment significantly reduces the need for phlebotomies in p.C282Y homozygous patients. In view of the known long-term safety profile of PPI, they can be a valuable addition to standard therapy. Clinicaltrials.gov: NCT01524757.status: publishe

Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

BACKGROUND: HFE-related hereditary haemochromatosis (HH) is a common autosomal recessive disorder with clinical manifestations ranging from asymptomatic disease to possible life-threatening complications. Cirrhosis, hepatocellular carcinoma, diabetes mellitus or osteoporosis can develop in HH patients not treated or monitored optimally. The purpose of this study was to develop key-interventions (KI's) to measure and improve the quality of care delivered to patients diagnosed with HH. METHODS: A RAND-Modified Delphi method was used to develop KI's. In the first round of a scoring form to prioritize the recommendations extracted from evidence-based guidelines was circulated between experts. The results of this survey were discussed in a consensus meeting, followed by a final appraisal of the selected recommendations. This resulted in a list of measurable KI's. RESULTS: Initially, 41 key recommendations on screening, diagnosis and treatment/management were extracted from three existing guidelines on HH (European Association for the Study of the Liver, American Association for the Study of Liver Diseases and Dutch guideline on HH). Finally, a core set of 24 recommendations resulted in 15 KI's. CONCLUSIONS: This manuscript presents the results of the process to develop KI's to measure and improve the quality of care for patients with HH.status: publishe

The quality of hereditary haemochromatosis guidelines: a comparative analysis

BACKGROUND AND OBJECTIVES: Hereditary haemochromatosis (HH) is the most prevalent genetic liver disease, with an incidence of 1/200 to 1/400 in the Caucasian population. HH patients are treated by family physicians as well as different specialists. When left untreated or insufficiently treated, the complications can become life threatening. To support and evaluate qualitative care for HH, we evaluated and compared the available structured guidelines on screening, diagnosis and management of HH patients. METHODS: Seven appraisers systematically reviewed the retrieved guidelines. The Appraisal of Guidelines Research and Evaluation II (AGREE II) was used to score and discuss the quality and reach consensus. The content of recommendations and the evidence behind them, were evaluated. RESULTS: Three guidelines, developed by the American Association for the Study of Liver Diseases (AASLD), the European Association for the Study of the Liver (EASL) and a DUTCH guideline were found. Fifty-seven percent of the recommendations were not shared between the guidelines, pointing to inconsistency of their content. Only two references supporting the recommendations were shared between all three guidelines. The AASLD guideline contains no information about management and follow-up. Moreover, the methodological quality of the AASLD guideline was rated insufficient, except for 'clarity and presentation' (77%). Applicability of the guidelines was scored very low in all three (AASLD: 31%, EASL: 23%, DUTCH: 35%). The DUTCH guideline was judged best. CONCLUSIONS: Very poor consistency between available guidelines for HH hampers qualitative care and its evaluation. An updated high-quality and evidence-based guideline that covers follow-up and management of patients with HH is needed.publisher: Elsevier articletitle: The quality of hereditary haemochromatosis guidelines: A comparative analysis journaltitle: Clinics and Research in Hepatology and Gastroenterology articlelink: http://dx.doi.org/10.1016/j.clinre.2014.09.001 content_type: article copyright: Copyright © 2014 Elsevier Masson SAS. All rights reserved.status: publishe

Additional file 4: Appendix D. of Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

Selected recommendations. (DOCX 18 kb

EASL Clinical Practice Guidelines on haemochromatosis

: Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and ferritin >200 μg/L in females and TSAT >50% and ferritin >300 μg/L in males and postmenopausal women) is sufficient to diagnose haemochromatosis. In patients with high TSAT and elevated ferritin but other HFE genotypes, diagnosis requires the presence of hepatic iron overload on MRI or liver biopsy. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management. Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma. Treatment targets for phlebotomy are ferritin <50 μg/L during the induction phase and <100 μg/L during the maintenance phase

Additional file 3: Appendix C. of Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

Overview scores written questionnaire. (DOCX 64 kb