Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?

Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed.

Managing Drug-Drug Interaction Between Ombitasvir, Paritaprevir/Ritonavir, Dasabuvir, and Mycophenolate Mofetil.

No drug-drug interaction study has been conducted to date for the combination of ombitasvir, paritaprevir/ritonavir, dasabuvir (3D), and mycophenolic acid (MPA). We here report the case of a hepatitis C virus-infected patient treated with 3D and MPA for vasculitis. In light of the threat of drug-drug interaction, the concentration of MPA was measured before, during, and 15 days after the end of the 3D treatment.

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.

p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes.

Chronic hepatitis C: treat or wait? A prospective study on reasons for treatment or nontreatment in the era of first-generation protease inhibitors.

Background And Aims: In many countries, current treatment for patients with chronic hepatitis C involves a combination of peginterferon and ribavirin, associated with a protease inhibitor for hepatitis C virus genotype 1. More recent and efficient less toxic antiviral treatments are now available for some patients. Thus, the decision to treat or to wait is challenging.

Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.

Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochromatosis.

[Bowel preparation : what's new ?].

Background: The efficiency of bowel preparation directly affects the quality and the reliability of total colonoscopy. Inadequate bowel cleansing is a common cause of incomplete colonoscopy with a risk of ignoring pre-neoplastic lesions represented primarily as adenomas with a size below centimetre. Due to the numerous factors interfering with preparation, an adapted choice of the type of preparation and the follow-up of diverse methods to optimize bowel preparation allows to improve diagnostic accuracy and to reduce costs while guaranteeing to the patient good tolerabilty and safety.

[Catastrophic antiphospholipid syndrome and rituximab: a new report].

Background: Catastrophic antiphospholipid syndrome is a distinctly rare dramatic condition characterized by widespread thrombosis of small vessels. Early diagnosis and aggressive therapies are essential in this condition because of its extremely high mortality rate. Therapeutic management include heparine, high dose steroids, cyclophosphamide, plasma exchange, intravenous immunoglobuline, however a number of patients are refractory to treatment.