Surveillance liver MRI for monitoring patients with known or suspected chronic liver disease
Chronic liver disease (CLD) affects 3 million people in the United States.1 The leading causes of CLD are hepatitis C (HCV) and B (HBV) viruses, alcohol abuse and, in western countries, non-alcoholic fatty liver disease (NAFLD). Less common risk factors include immune-mediated liver disease, such as autoimmune hepatitis, sclerosing cholangitis, and primary biliary cirrhosis; genetic-related liver disease, such as hereditary haemochromatosis; and toxins (e.g., iron overload). The morphological and functional changes seen with CLD, ranging from steatosis to fibrosis and, ultimately, cirrhosis, are due to a failed wound-heali...
Source: Clinical Radiology - September 25, 2016 Category: Radiology Authors: C. Pozzessere, K.K. Porter, I.R. Kamel Tags: Technical Report Source Type: research
Costs associated with hereditary haemochromatosis in Australia: a cost-of-illness study.
Conclusion The present cost-of-illness study, the first to be published for haemochromatosis, found that although costs were substantial, they could be decreased by reducing clinical penetrance. Development of cost-effective strategies to increase early diagnosis is likely to result in better health outcomes for patients and lower total costs.What is known about the topic? To date, no cost-of-illness study has been conducted for haemochromatosis. Previous economic work in this area has relied on cost estimates based on expert opinion.What does the paper add? This paper provides the first cost estimates for haemochromatosis...
Source: Australian Health Review - July 21, 2016 Category: Hospital Management Authors: de Graaff B, Neil A, Sanderson K, Yee KC, Palmer AJ Tags: Aust Health Rev Source Type: research
Coeliac disease presenting as apparent haemochromatosis
(Source: Internal Medicine Journal)
Source: Internal Medicine Journal - July 11, 2016 Category: Internal Medicine Authors: M. M. A. Tran, M. Browne Tags: Letter to the Editor Source Type: research
Haemochromatosis and gastrointestinal cancer
This article is protected by copyright. All rights reserved. (Source: International Journal of Cancer)
Source: International Journal of Cancer - June 13, 2016 Category: Cancer & Oncology Authors: Katarina Lagergren, Karl Wahlin, Fredrik Mattsson, Derek Alderson, Jesper Lagergren Tags: Short Report Source Type: research
What is HFE haemochromatosis?
PMID: 27269766 [PubMed - in process] (Source: British Journal of Hospital Medicine)
Source: British Journal of Hospital Medicine - May 31, 2016 Category: Internal Medicine Authors: Marjot T, Collier J, Ryan JD Tags: Br J Hosp Med (Lond) Source Type: research
Musculoskeletal complications of haematological disease
Rheumatological manifestations complicate many benign and malignant blood disorders. Significant advances in haematology, with improved diagnostic techniques and newer musculoskeletal imaging, have occurred in the past two decades. This review focuses on the interrelationship between the major haematological diseases (haemochromatosis, haemophilia, sickle cell disease, thalassaemia, leukaemia, lymphoma, myelodysplastic syndromes, multiple myeloma and cryoglobulinaemia) and rheumatic manifestations. (Source: Rheumatology)
Source: Rheumatology - May 16, 2016 Category: Rheumatology Authors: Morais, S. A., du Preez, H. E., Akhtar, M. R., Cross, S., Isenberg, D. A. Tags: Education REVIEWS Source Type: research
Haemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies.
CONCLUSIONS: Data from both cohorts confirm the high prevalence of joint symptoms in haemochromatosis predating the diagnosis by many years. Discriminatory features of the arthropathy include the involvement of MCP joints and ankles at a relatively young age in the absence of trauma, all of which are unusual features of primary osteoarthritis (OA). The finding of this presentation should prompt diagnostic tests for haemochromatosis.
PMID: 27187562 [PubMed - as supplied by publisher] (Source: Scandinavian Journal of Rheumatology)
Source: Scandinavian Journal of Rheumatology - May 16, 2016 Category: Rheumatology Authors: Richardson A, Prideaux A, Kiely P Tags: Scand J Rheumatol Source Type: research
Genetic explanations, discrimination and chronic illness: A qualitative study on hereditary haemochromatosis in Germany.
The objective of this study is to explore the discriminatory impacts of genetic diagnosis for people living with the chronic illness of hereditary haemochromatosis in Germany.
METHODS: Semi-structured interviews with 15 patients; all had tested positive for a genetic mutation associated with haemochromatosis and already displayed symptoms of the disease. Inductive approach, with interviews collaboratively interpreted by the research group in a vertical and horizontal analysis informed by a multi-person perspective.
RESULTS: First, as the genetic diagnosis of the disease holds the promise of therapeutic inte...
Source: Chronic Illness - May 11, 2016 Category: Journals (General) Authors: Manz U Tags: Chronic Illn Source Type: research
Can modifier gene mutations improve the predictive value of the modified Iron Avidity Index in Type 1 Hereditary Haemochromatosis?
This article is protected by copyright. All rights reserved. (Source: Liver International)
Source: Liver International - April 27, 2016 Category: Gastroenterology Authors: Isabella Zanella, Diego Di Lorenzo, Giorgio Biasiotto Tags: Letter to the Editor Source Type: research
Increased iron stores prolong the QT interval – a general population study including 20 261 individuals and meta‐analysis of thalassaemia major
In conclusion, increased iron stores, independent of haemochromatosis genotype and inflammation, are associated with prolongation of the QTc interval in men. This is a novel finding. In addition, the meta‐analysis showed prolonged QT interval in thalassaemia major patients compared to healthy controls. (Source: British Journal of Haematology)
Source: British Journal of Haematology - April 7, 2016 Category: Hematology Authors: Lise Fischer Henriksen, Anne‐Sofie Petri, Hans Carl Hasselbalch, Jørgen Kim Kanters, Christina Ellervik Tags: Research Paper Source Type: research
The modified iron avidity index: a promising phenotypic predictor in HFE‐related haemochromatosis
ConclusionThe modified IAI is a fairly good predictor in non‐PPI‐using homozygous C282Y HH patients, to differentiate who needs ≥3 maintenance phlebotomies per year. Therefore, this index might help to select patients that benefit from an alternative less frequent therapy, e.g. erythrocytapheresis. (Source: Liver International)
Source: Liver International - April 5, 2016 Category: Gastroenterology Authors: Pauline L. M. Verhaegh, Wenke Moris, Ger H. Koek, Cees Th. B. M. Deursen Tags: Original Article Source Type: research
The modified iron avidity index: a promising phenotypic predictor in HFE ‐related haemochromatosis
ConclusionThe modified IAI is a fairly good predictor in non‐PPI‐using homozygous C282Y HH patients, to differentiate who needs ≥3 maintenance phlebotomies per year. Therefore, this index might help to select patients that benefit from an alternative less frequent therapy, e.g. erythrocytapheresis. (Source: Liver International)
Source: Liver International - April 5, 2016 Category: Gastroenterology Authors: Pauline L. M. Verhaegh, Wenke Moris, Ger H. Koek, Cees Th. B. M. Deursen Tags: Original Article Source Type: research
Alterations in sympathetic nerve traffic in genetic haemochromatosis before and after iron depletion therapy: a microneurographic study
Conclusion
These data provide the first evidence that in HH iron overload is associated with an hyperadrenergic state and a baroreflex alteration, which are reversed by iron depletion. These findings underline the importance of iron overload in modulating sympathetic activation, possibly participating at the elevated cardiovascular risk reported in HH. (Source: European Heart Journal)
Source: European Heart Journal - March 21, 2016 Category: Cardiology Authors: Seravalle, G., Piperno, A., Mariani, R., Pelloni, I., Facchetti, R., Dell'Oro, R., Cuspidi, C., Mancia, G., Grassi, G. Tags: Pathophysiology Source Type: research
Haemochromatosis
Publication date: Available online 12 March 2016 Source:The Lancet Author(s): Lawrie W Powell, Rebecca C Seckington, Yves Deugnier Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosi...
Source: The Lancet - March 12, 2016 Category: Journals (General) Source Type: research
Endocrine dysfunction in hereditary hemochromatosis
Abstract
Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the mos...
Source: Journal of Endocrinological Investigation - March 7, 2016 Category: Endocrinology Source Type: research
