136 the A736v Tmprss6 Polymorphism Is Associated With the Penetrance of Hereditary Hemochromatosis and Hepatocellular Carcinoma in C282y +/+ Patients

Valenti, L.; Fracanzani, A.L.; Rametta, Raffaela; Soverini, Giulia; Pelusi, S.; Dongiovanni, Paola

doi:10.1016/s0168-8278(12)60150-0

Cited by 1 publication

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“…• Male sex 4,7,30 • Heterozygous presence of the HFE p.C282Y pathogenic variant or homozygous presence of the p.H63D variant or, in particular, compound heterozygosity for p.C282Y/p.H63D variants 7,30,101 • PCSK7 variants 102 • Absence of TMPRSS6 p.A736V variant 37,103 • Heterozygous presence of SERPINA1 PiZ and PiS pathogenic variants 104 • Heterozygous pathogenic variants of β-globin gene (HBB), that is, β-thalassaemia trait 18 • Rare NMBR variants 105 • Heterozygous pathogenic variants of the gene that encodes ceruloplasmin 31…”

Section: Geneticmentioning

confidence: 99%

Consensus Statement on the definition and classification of metabolic hyperferritinaemia

et al. 2023

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Hyperferritinaemia is a common laboratory finding that is often associated with metabolic dysfunction and fatty liver. Metabolic hyperferritinaemia reflects alterations in iron metabolism that facilitate iron accumulation in the body and is associated with an increased risk of cardiometabolic and liver diseases. Genetic variants that modulate iron homeostasis and tissue levels of iron are the main determinants of serum levels of ferritin in individuals with metabolic dysfunction, raising the hypothesis that iron accumulation might be implicated in the pathogenesis of insulin resistance and the related organ damage. However, validated criteria for the non-invasive diagnosis of metabolic hyperferritinaemia and the staging of iron overload are still lacking, and there is no clear evidence of a benefit for iron depletion therapy. Here, we provide an overview of the literature on the relationship between hyperferritinaemia and iron accumulation in individuals with metabolic dysfunction, and on the associated clinical outcomes. We propose an updated definition and a provisional staging system for metabolic hyperferritinaemia, which has been agreed on by a multidisciplinary global panel of expert researchers. The goal is to foster studies into the epidemiology, genetics, pathophysiology, clinical relevance and treatment of metabolic hyperferritinaemia, for which we provide suggestions on the main unmet needs, optimal design and clinically relevant outcomes. Sections MethodologyGiven the high prevalence of hyperferritinaemia in clinical practice, combined with a growing understanding of the underlying pathophysiology and clinical implications, an updated definition and grading system is warranted. The overall goal of this Consensus Statement was therefore to provide a proposal for a more accurate diagnosis and classification of MHF, to be validated by prospective studies, to provide suggestions on the design of these studies and to highlight some of the main unmet research needs in the field. Owing to the current absence of robust evidence to support the recommendation to screen for and diagnose MHF and then to treat this condition with a specific approach (such as iron depletion), the current Consensus Statement is mainly directed at clinicians who work in tertiary referral centres and clinical and basic researchers. The updated MHF definition will enable larger collaborative studies on the clinical implications, pathophysiology and therapy of this condition, although it will still require prospective validation and further refinement. The long-term goal is the improvement of clinical management of patients with MHF. On the basis of current evidence, we also provide expert recommendations for clinicians on the diagnosis, management, follow-up and treatment of this condition (presented in the Supplementary material).Consensus was reached by a multidisciplinary global panel of expert researchers with an interest in MHF from five continents and 14 countries working in the fields of iron metabolism, clinical endocrinology, ...

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