HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank
Conclusions
Male and female p.C282Y homozygotes experienced greater excess morbidity than previously documented, including those undiagnosed with haemochromatosis in the community. As haemochromatosis diagnosis rates were low at baseline despite treatment being considered effective, trials of screening to identify people with p.C282Y homozygosity early appear justified. (Source: BMJ Open)
Source: BMJ Open - March 13, 2024 Category: General Medicine Authors: Lucas, M. R., Atkins, J. L., Pilling, L. C., Shearman, J. D., Melzer, D. Tags: Open access, Epidemiology Source Type: research
Liver biopsy for assessment of chronic liver diseases: a synopsis
AbstractThe world-wide increase in chronic liver disease (CLD) calls for refinement of diagnostic and prognostic measures for early and accurate disease detection and management. Regardless of the aetiology, liver biopsy allows direct visualisation of specimen under the microscope. It facilitates histological evaluation of disease-specific morphological alterations. Thereby, it aids in disease diagnosis, prognosis, and assessment of treatment compliance/response. Indeed, with the advent of non-invasive methods, liver biopsy is used less frequently than before, but it is still considered as a gold standard for staging and g...
Source: Clinical and Experimental Medicine - June 1, 2023 Category: Research Source Type: research
Tumour stemness and poor clinical outcomes in haemochromatosis patients with hepatocellular carcinoma
CONCLUSIONS: This study demonstrates that the clinical course of patients with HFE-HCC is more aggressive and provides the first data indicating that their tumours have increased expression of progenitor markers. These findings suggest patients with HFE-HCC may need to be considered for transplant at an earlier stage.PMID:37253536 | DOI:10.1136/jcp-2022-208679 (Source: Cancer Control)
Source: Cancer Control - May 30, 2023 Category: Cancer & Oncology Authors: Daniel M Di Capua William Shanahan Michele Bourke Navneet Ramlaul Josh Appel Aoife Canney Neil G Docherty Erinn McGrath Eabha Ring Fiona Jones Marie Boyle Janet McCormack Tom Gallagher Emir Hoti Niamh Nolan John D Ryan Diarmaid D Houlihan Aurelie Fabre Source Type: research
Other specific types of diabetes and exocrine pancreatic insufficiency (update 2023)
Wien Klin Wochenschr. 2023 Jan;135(Suppl 1):18-31. doi: 10.1007/s00508-022-02123-x. Epub 2023 Apr 20.ABSTRACTThe heterogenous category "specific types of diabetes due to other causes" encompasses disturbances in glucose metabolism due to other endocrine disorders such as acromegaly or hypercortisolism, drug-induced diabetes (e.g. antipsychotic medications, glucocorticoids, immunosuppressive agents, highly active antiretroviral therapy (HAART), checkpoint inhibitors), genetic forms of diabetes (e.g. Maturity Onset Diabetes of the Young (MODY), neonatal diabetes, Down‑, Klinefelter- and Turner Syndrome), pancreatogenic dia...
Source: Wiener Klinische Wochenschrift - April 26, 2023 Category: General Medicine Authors: Susanne Kaser Sabine E Hofer Lili Kazemi-Shirazi Andreas Festa Yvonne Winhofer Harald Sourij Helmut Brath Michaela Riedl Michael Resl Martin Clodi Thomas Stulnig Claudia Ress Anton Luger Source Type: research
Haemochromatosis
is an inherited disorder of iron loading associated with significant morbidity and mortality if recognized late. Diagnosis, via HFE genotyping and confirmation of iron overload, followed by treatment with venesection, is simple to enact. Clinicians are now more attuned to thinking about haemochromatosis, with earlier presentations the norm. However, the diagnosis is still missed and irreversible joint disease in particular affects quality of life. Furthermore, men with haemochromatosis are 10 times more likely to develop primary liver cancer, highlighting the need to diagnose and treat early. (Source: Medicine)
Source: Medicine - April 25, 2023 Category: Internal Medicine Authors: William JH. Griffiths Tags: Metabolic liver disease Source Type: research
Clinical and laboratory assessment of symptomatic and asymptomatic liver disease
Chronic liver disease is rising in incidence and prevalence in the UK and carries a significant mortality as well as socioeconomic burden for individuals, their families and health services. Although the causes of liver disease are many, the vast majority of liver disease is preventable and related to excess alcohol consumption, being overweight/obese or the acquisition of hepatitis B and or C. However, less common causes of liver disease should not be overlooked, especially as effective specific therapies may be available; this is the case for autoimmune hepatitis (AIH), primary biliary cholangitis (PBC) and haemochromato...
Source: Medicine - March 23, 2023 Category: Internal Medicine Authors: Neil Mistry, Andrew Yeoman Tags: Assessment of liver disease Source Type: research
Magnetic Resonance Liver Iron Concentration Can Guide Venesection Decision-Making in Hyperferritinemia
ConclusionMRLIC is an accurate marker of iron overload in haemochromatosis. We propose serum ferritin thresholds in non-homozygotes which, if validated, could tailor cost-effective use of MRLIC in venesection decision-making. (Source: Digestive Diseases and Sciences)
Source: Digestive Diseases and Sciences - March 17, 2023 Category: Gastroenterology Source Type: research
Letter to the editor regarding: "A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population". Clinica Chimica Acta 538 (2023) 211-215
Clin Chim Acta. 2023 Mar 13:117271. doi: 10.1016/j.cca.2023.117271. Online ahead of print.NO ABSTRACTPMID:36921681 | DOI:10.1016/j.cca.2023.117271 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 15, 2023 Category: Chemistry Authors: Janice L Atkins Mitchell Lucas Luke C Pilling David Melzer Source Type: research
Letter to the editor regarding: "A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population". Clinica Chimica Acta 538 (2023) 211-215
Clin Chim Acta. 2023 Mar 13:117271. doi: 10.1016/j.cca.2023.117271. Online ahead of print.NO ABSTRACTPMID:36921681 | DOI:10.1016/j.cca.2023.117271 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 15, 2023 Category: Chemistry Authors: Janice L Atkins Mitchell Lucas Luke C Pilling David Melzer Source Type: research
Pituitary hyposignal characteristic of hemochromatosis on MRI
Pituitary haemochromatosis is an endocrine disorder caused by the accumulation of iron due to a lack of absorption during haemochromatosis. The characteristic appearance on MRI is a T2 and T2* hyposignal of the anterior pituitary gland without enhancement, respecting the pituitary stalk and the posterior pituitary gland. Diagnosis is essential for early treatment. AbstractPituitary haemochromatosis is an endocrine disorder caused by the accumulation of iron due to a lack of absorption during haemochromatosis. The characteristic appearance on MRI is a T2 and T2* hyposignal of the anterior pituitary gland without enhancement...
Source: Clinical Case Reports - January 12, 2023 Category: General Medicine Authors: Romeo Thierry Yehouenou Tessi,
Rita Koudouhonon Oze,
Mustapha Outznit,
Ihssan Hadj Hsain,
Ittimade Nassar,
Nabil Moatassim Billah Tags: CASE IMAGE Source Type: research
A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population
CONCLUSIONS: In conclusion, our results indicate that presence of the rs1800562 minor allele, which is associated with hereditary haemochromatosis (thus increased levels of plasma Fe), increases susceptibility to SARS-CoV-2.PMID:36572138 | DOI:10.1016/j.cca.2022.12.025 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 26, 2022 Category: Chemistry Authors: J A Hubacek T Philipp V Adamkova O Majek L Dusek Source Type: research
Haemochromatosis revisited
World J Hepatol. 2022 Nov 27;14(11):1931-1939. doi: 10.4254/wjh.v14.i11.1931.ABSTRACTHaemochromatosis is a genetic disease caused by hepcidin deficiency, responsible for an increase in intestinal iron absorption. Haemochromatosis is associated with homozygosity for the HFE p.Cys282Tyr mutation. However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HAMP, TFR2 and SLC40A1). A working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society) has concluded that the classification based in different molec...
Source: World Journal of Hepatology - December 9, 2022 Category: Gastroenterology Authors: Aline Morgan Alvarenga Pierre Brissot Paulo Caleb Junior Lima Santos Source Type: research
Haemochromatosis revisited
World J Hepatol. 2022 Nov 27;14(11):1931-1939. doi: 10.4254/wjh.v14.i11.1931.NO ABSTRACTPMID:36483608 | PMC:PMC9724105 | DOI:10.4254/wjh.v14.i11.1931 (Source: World Journal of Hepatology)
Source: World Journal of Hepatology - December 9, 2022 Category: Gastroenterology Authors: Aline Morgan Alvarenga Pierre Brissot Paulo Caleb Junior Lima Santos Source Type: research
