Publications by authors named "Y Deugnier"

Background & Aims: The standard of care for haemochromatosis is regular phlebotomy in order to maintain low ferritin levels. Many patients report fatigue or joint pain despite serum ferritin within the therapeutic targets. We evaluated Patient-Reported Outcomes, and their relation with iron parameters, in C282Y homozygous patients undergoing maintenance phlebotomy.

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Article Synopsis
  • Venesection, a treatment for haemochromatosis, is often prescribed incorrectly, especially in patients with moderate iron accumulation and elevated serum ferritin linked to obesity and metabolic issues.
  • In a study of 1,059 French patients from 2012-2015, only 24.4% had the genetic mutation typically associated with haemochromatosis, while a majority had conditions like central obesity or metabolic syndrome.
  • The findings suggest that haemochromatosis is often over-diagnosed, and venesection may be misapplied in non-haemochromatosis patients, highlighting the need for reevaluation of treatment guidelines based on true iron overload profiles.
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Article Synopsis
  • Ferroportin disease is a rare genetic disorder causing excess iron in the body, possibly more common than previously thought, but often underdiagnosed due to high costs and unclear genetic testing criteria.
  • The study developed a scoring system based on various clinical factors to improve screening for this condition, using data from over 1,300 patients to create a weighted score that aids diagnosis.
  • The scoring system showed a sensitivity of 93.6% and is proposed for use in regular clinical practice to help identify and manage patients with ferroportin disease effectively.
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The use of next generation sequencing and bioinformatics has revealed the complexity and richness of the human oral microbiota. While some species are well known for their periodontal pathogenicity, the molecular-based approaches for bacterial identification have raised awareness about new putative periodontal pathogens. Although they are found increased in case of periodontitis, there is currently a lack of data on their interrelationship with the periodontal measures.

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Background & Aims: Fibrosis stage can decrease following treatment in patients with hemochromatosis caused by mutations in the homeostatic iron regulator gene (HFE), but the effects on cirrhosis are not clear. We assessed regression of severe fibrosis and the ensuing risk of liver cancer after treatment.

Methods: We performed a retrospective analysis of data from 106 patients in France or Australia who were homozygous for the C282Y mutation in HFE with F3 fibrosis (n = 40) or F4 fibrosis (n = 66) at diagnosis and from whom at least 1 liver biopsy was collected during follow up.

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