Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and is underdiagnosed in many patients. Early diagnosis by genetic testing and therapy by periodic phlebotomy can prevent the most serious complications, which include liver cirrhosis, liver cancer, and death. This Seminar includes an update on the origins of haemochromatosis; and an overview pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/S0140-6736(23)00287-8 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Real-world effectiveness and safety of bulevirtide monotherapy for up to 96 weeks in patients with HDV-related cirrhosis.
J Hepatol
January 2025
Division of Gastroenterology and Hepatology, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; CRC "A. M. and A. Migliavacca" Center for Liver Disease, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; D-SOLVE consortium, an EU Horizon Europe funded project (No 101057917). Electronic address:
Background And Aims: Bulevirtide (BLV) 2 mg/day is EMA approved for treatment of compensated chronic hepatitis due to Delta virus (HDV) infection, however real-life data in large cohorts of patients with cirrhosis are lacking.
Methods: Consecutive HDV-infected patients with cirrhosis starting BLV 2 mg/day since September 2019 were included in a European retrospective multicenter real-life study (SAVE-D). Patient characteristics before and during BLV treatment were collected.
The Effect of Prolonged Antenatal Intravenous Immunoglobulin Treatment in Preventing Gestational Alloimmune Liver Disease-A Case Series with Literature Review.
AJP Rep
January 2025
Department of Pediatric Hematology-Oncology, Cooper Medical School of Rowan University, Camden, New Jersey.
Gestational alloimmune liver disease (GALD) is characterized by maternal IgG-directed fetal hepatocyte damage and can lead to severe liver failure and fetal or infant death. Moreover, GALD is associated with a near 90% risk of recurrence in subsequent pregnancies. We present a case of a newborn patient delivered to a 32-year-old G2P1000 mother who received prolonged antenatal intravenous immunoglobulin (IVIG) treatment during the current pregnancy due to the neonatal death of the first child from GALD-related liver failure.
View Article and Find Full Text PDFTreatment outcomes with oral anti-hyperglycaemic therapies in people with diabetes secondary to a pancreatic condition (type 3c diabetes): A population-based cohort study.
Diabetes Obes Metab
January 2025
Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK.
Aims: To assess outcomes of oral anti-hyperglycaemic therapies in people with diabetes secondary to a pancreatic condition (type 3c), where specific treatment guidance is limited.
Materials And Methods: Using hospital-linked UK primary care records (Clinical Practice Research Datalink; 2004-2020), we identified 7084 people with a pancreatic condition (acute pancreatitis, chronic pancreatitis, pancreatic cancer and haemochromatosis) preceding diabetes diagnosis (type 3c cohort), initiating oral glucose-lowering therapy (metformin, sulphonylureas, SGLT2-inhibitors, DPP4-inhibitors or thiazolidinediones), and without concurrent insulin treatment. We stratified by pancreatic exocrine insufficiency [PEI] (n = 5917 without PEI, 1167 with PEI) and matched to 97 227 type 2 diabetes (T2D) controls.
First report of iron-overload myopathy due to secondary hemochromatosis in a dog.
J Vet Sci
December 2024
Department of Veterinary Pathology, College of Veterinary Medicine, Kyungpook National University, Daegu 41566, Korea.
Importance: Hemochromatosis is rare in domestic animals, and iron-induced myopathy has not been reported in veterinary medicine. This case is the first report of iron-overload myopathy owing to hemochromatosis in a dog.
Case Presentation: A 9-year-old spayed female Donggyeong dog presented with severe forelimb lameness.
Yersiniosis has a causal relationship with hereditary hemochromatosis (HH). Physicians should have a high index of suspicion for the diagnosis of HH when approaching a patient with yersiniosis in the setting of high ferritin levels and increased iron saturation. Yersiniosis serves as a precursor for the diagnosis of HH.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!