Review
Orthopedics
Asima Karim, Khuloud Bajbouj, Rizwan Qaisar, Andrew C. Hall, Mawieh Hamad
Summary: Arthropathy or joint disease is closely associated with iron overload, but there are still some mysteries in the pathogenesis. This review focuses on the interaction between iron accumulation in the joints and cartilage homeostasis, and explores the mechanisms and pathways of iron-induced cartilage degeneration.
JOURNAL OF ORTHOPAEDIC RESEARCH
(2022)
Editorial Material
Hematology
Nermi L. Parrow, Robert E. Fleming
Summary: In this study, the researchers found that the hemochromatosis protein HFE is necessary for the involvement of hepatocellular transferrin receptor 1 (TFR1) in the regulation of iron metabolism and erythropoiesis. This regulation is crucial for maintaining iron balance and normal red blood cell production. The disruption of this regulation contributes to iron-loading anemias and erythropoietin resistance. The identification of the sensors responsible for these processes provides potential targets for therapeutic interventions.
Article
Biochemistry & Molecular Biology
Lindsey H. Burton, Maryam F. Afzali, Lauren B. Radakovich, Margaret A. Campbell, Lauren A. Culver, Christine S. Olver, Kelly S. Santangelo
Summary: The study demonstrated that pharmacologic iron chelation with deferoxamine reduced iron levels and delayed the progression of primary osteoarthritis in an animal model. Reduction of iron content alleviated cartilage lesions, decreased chondrocyte hypocellularity, enhanced expression of anti-apoptotic genes, and decreased expression of matrix-degrading enzymes.
FREE RADICAL BIOLOGY AND MEDICINE
(2022)
Article
Medicine, General & Internal
Emmanuelle Albalat, Thibault Cavey, Patricia Leroyer, Martine Ropert, Vincent Balter, Olivier Loreal
Summary: Hereditary hemochromatosis is a genetic iron overload disease caused by a mutation in the HFE gene. Using Hfe(-/-) mice, this study found that the concentration of iron and stable isotope composition increased in the liver and red blood cells, but not in the spleen. The results suggest that the increase in whole blood isotope composition in hemochromatosis patients is mainly due to the release of heavy isotope-enriched iron from the liver, rather than increased dietary iron absorption.
FRONTIERS IN MEDICINE
(2021)
Article
Gastroenterology & Hepatology
Wenke Moris, Pauline L. M. Verhaegh, Jef Verbeek, Dorine W. Swinkels, Coby M. Laarakkers, Adrian A. M. Masclee, Ger H. Koek, Cees Th. B. M. van Deursen
Summary: This study confirms that lowering gastric acidity by proton pump inhibitors results in a reduction in iron absorption in patients with hemochromatosis and not in healthy control subjects. The presupposition that a decrease in hepcidin concentration in healthy control subjects in response to lowering gastric acidity can explain the difference in iron absorption between these groups could not be confirmed probably because of a small sample size.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2021)
Review
Medicine, General & Internal
Paul C. Adams, Gary Jeffrey, John Ryan
Summary: Haemochromatosis is a common genetic disease in patients of northern European ancestry. It is often misdiagnosed in patients without iron overload and underdiagnosed in many patients. Early diagnosis through genetic testing and treatment with periodic phlebotomy can prevent serious complications such as liver cirrhosis, liver cancer, and death. This Seminar provides an update on the origins of haemochromatosis and covers pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.
Article
Medicine, General & Internal
Claudia Oana Cobilinschi, Ioana Saulescu, Simona Caraiola, Andra Florina Nitu, Radu Lucian Dumitru, Ioana Husar-Sburlan, Andra Rodica Balanescu, Daniela Opris-Belinski
Summary: Hemochromatosis is a challenging genetic disorder to diagnose due to its non-specific symptoms and slow progression. The liver is the most affected organ by iron overload, and early diagnosis and treatment can prevent severe complications.
MEDICINA-LITHUANIA
(2023)
Article
Nutrition & Dietetics
Simone Buerkli, Laura Salvioni, Natalie Koller, Christophe Zeder, Maria Jose Teles, Graca Porto, Jana Helena Habermann, Irina Lea Dubach, Florence Vallelian, Beat M. Frey, Diego Moretti, Jeannine Baumgartner, Michael B. Zimmermann
Summary: This study developed a natural polyphenol supplement and evaluated its effect on non-heme iron absorption in patients with HH. The results showed that the supplement can reduce dietary iron absorption and potentially decrease iron accumulation in patients with HH.
EUROPEAN JOURNAL OF NUTRITION
(2022)
Review
Cell Biology
Chenhui Cai, Wenhui Hu, Tongwei Chu
Summary: This review summarizes the findings and observations in the field of iron overload-related osteoarthritis (OA), discussing the cellular and molecular mechanisms associated with iron overload and its negative impact on joint homeostasis. It also highlights the potential value of interrupting the pathological effects of iron overload for the development of improved therapeutics in the field of OA.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biology
Abdolamir Allameh, Nico Huettmann, Edouard Charlebois, Angeliki Katsarou, Wen Gu, Konstantinos Gkouvatsos, Elisa Pasini, Mamatha Bhat, Zoran Minic, Maxim Berezovski, Maria Guido, Carine Fillebeen, Kostas Pantopoulos
Summary: HJV has a hepatoprotective function and its deficiency in mice leads to mitochondrial dysfunction and hepatocarcinogenesis.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Francesca M. Alves, Marissa K. Caldow, Sheridan L. Helman, Scott Ayton, Ashley Bush, Gordon S. Lynch, David M. Frazer, Rene Koopman
Summary: By studying the skeletal muscles of aged mice, we found that hereditary hemochromatosis is associated with increased iron content and decreased proteins related to oxidative metabolism, providing insights into the biochemical pathology underlying the common symptoms of fatigue and reduced exercise tolerance.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
(2022)
Article
Biochemistry & Molecular Biology
Varun V. Dhorajia, Jonghan Kim, Yuho Kim
Summary: In this study, using a mouse model of HH, it was found that although HH leads to systemic iron overload, only mild iron overload was observed in the skeletal muscle. Additionally, molecular markers related to mitochondrial function and autophagy were upregulated in the HH skeletal muscle, suggesting altered mitochondrial metabolism in response to iron overload. These early adaptive responses may play an important role in supporting mitochondrial health before the development of skeletal muscle dysfunction in HH.
MOLECULAR BIOLOGY REPORTS
(2023)
Review
Pediatrics
William J. H. Griffiths, Martin Besser, David J. Bowden, Deirdre A. Kelly
Summary: Juvenile haemochromatosis is a severe inherited iron-loading disorder that affects children and adolescents, leading to multi-organ dysfunction. Diagnosis is based on extreme increases in serum ferritin and transferrin saturation, supported by MRI findings of iron deposition in organs. Genetic mutations play a key role in this condition, and prompt treatment with iron chelation is essential for patient recovery.
LANCET CHILD & ADOLESCENT HEALTH
(2021)
Article
Medicine, General & Internal
Jing Zhang, Kefu Liu, Yan Sun, Jiafeng Yu
Summary: Hereditary hemochromatosis is a major cause of liver iron overload, and the multi-echo single-voxel magnetic resonance spectroscopy technique can be used for noninvasive assessment. It is of great value in familial cases, especially in young patients requiring long-term follow-up.
Article
Hematology
Eva Rombout-Sestrienkova, Bjorn Winkens, Marian van Kraaij, Cees Th. B. M. van Deursen, Mirian C. H. Janssen, Alexander M. J. Rennings, Dorothea Evers, Jean-Louis Kerkhoffs, Ad Masclee, Ger H. Koek
Summary: The study aimed to develop a model predicting the initial treatment procedures for naive hereditary hemochromatosis patients treated with phlebotomy or erythrocytapheresis, in order to guide clinicians in selecting the optimal treatment. Results showed that erythrocytapheresis significantly reduces the number of treatment procedures, with a greater impact on patients with higher initial Hb levels.
JOURNAL OF CLINICAL APHERESIS
(2021)
Article
Rheumatology
Emile Chotard, Anne Blanchard, Agnes Ostertag, Augustin Latourte, Gilles Gailly, Vincent Frochot, Frederic Liote, Valerie Bousson, Pascal Richette, Thomas Bardin, Rosa Vargas-Poussou, Hang Korng Ea
Summary: The study investigated the prevalence, distribution patterns, clinical phenotypes, and risk factors for chondrocalcinosis in 57 patients with Gitelman syndrome. It was found that a majority of patients had chondrocalcinosis, with the cervical spine being the most affected area. Low serum magnesium levels and age were identified as independent factors associated with chondrocalcinosis.
Letter
Rheumatology
Pascal Richette, Matthieu Allez, Vincent Descamps, Lucas Perray, Simon Pilet, Augustin Latourte, Milka Maravic
Article
Rheumatology
Florian Lucasson, Pascal Richette, Krystel Aouad, Adeline Ryussen-Witrand, Daniel Wendling, Bruno Fautrel, Laure Gossec
Summary: Psoriasis is common in early axSpA, and patients with axSpA and psoriasis may experience more severe joint swelling and require more treatment, but there is no worsening of axSpA-related outcomes in terms of activity and severity.
Letter
Rheumatology
Agathe Vigouroux, Agnes Ostertag, Anne-Claude Cremieux, Thomas Bardin, Augustin Latourte, Hang-Korng Ea, Pascal Richette
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Rheumatology
Thomas Bardin, Elodie Magnat, Pierre Clerson, Pascal Richette, Bernard Rouchon
Summary: The study revealed a high prevalence of gout and hyperuricemia in New Caledonia, with differences among ethnic groups, particularly higher rates among Polynesians and Melanesians.
Article
Rheumatology
Augustin Latourte, Anne-Christine Rat, Abdou Omorou, Willy Ngueyon-Sime, Florent Eymard, Jeremie Sellam, Christian Roux, Hang-Korng Ea, Martine Cohen-Solal, Thomas Bardin, Johann Beaudreuil, Francis Guillemin, Pascal Richette
Summary: Recent study found that intraarticular glucocorticoid injections did not significantly increase the risk of disease progression in patients with knee osteoarthritis over a 5-year follow-up period.
ARTHRITIS & RHEUMATOLOGY
(2022)
Review
Medicine, General & Internal
Sabryne Berkani, Alice Courties, Florent Eymard, Augustin Latourte, Pascal Richette, Francis Berenbaum, Jeremie Sellam, Karine Louati
Summary: Intra-articular hyaluronic acid injections can delay the time to total knee arthroplasty (TKA) among knee osteoarthritis (KOA) patients. However, the effects of platelet-rich plasma (PRP) injections on TKA delay are still unclear.
JOURNAL OF CLINICAL MEDICINE
(2022)
Editorial Material
Rheumatology
Pascal Richette, Augustin Latourte
JOURNAL OF RHEUMATOLOGY
(2022)
Editorial Material
Orthopedics
P. Richette, A. Latourte
OSTEOARTHRITIS AND CARTILAGE
(2023)
Article
Multidisciplinary Sciences
Yohan Jouan, Zohra Bouchemla, Benoit Bardeche-Trystram, Joanna Sana, Caroline Andrique, Hang-Korng Ea, Pascal Richette, Augustin Latourte, Martine Cohen-Solal, Eric Hay
Summary: This study reveals a new pathway involving the Lin28a-Let7 axis that promotes chondrocyte metabolism in injured cartilage. It contributes to the understanding of cartilage physiology and the pathogenesis of osteoarthritis.
Article
Rheumatology
Thomas Bardin, Yves-Marie Ducrot, Quang Nguyen, Emmanuel Letavernier, Jeremy Zaworski, Hang-Korng Ea, Frederic Touzain, Minh Duc Do, Julien Colot, Yann Barguil, Antoine Biron, Matthieu Resche-Rigon, Pascal Richette, Corinne Collet
Summary: This study identified three rare LDHD gene variants associated with juvenile-onset gout in three different ethnicities. The variants were found to cause decreased urate clearance and increased levels of d-lactate in blood and urine.
Article
Rheumatology
Pascal Richette, Marijn Vis, Sarah Ohrndorf, William Tillett, Julio Ramirez, Marlies Neuhold, Michel van Speybroeck, Elke Theander, Wim Noel, Miriam Zimmermann, May Shawi, Alexa Kollmeier, Alen Zabotti
Summary: This study used machine learning to analyze data from PsA patients and identified eight distinct PsA phenotype clusters with significant differences in demographics, clinical features, and treatment responses. These findings could potentially support individualized treatment decisions.
Article
Rheumatology
Abhishek Abhishek, Sara K. Tedeschi, Tristan Pascart, Augustin Latourte, Nicola Dalbeth, Tuhina Neogi, Amy Fuller, Ann Rosenthal, Fabio Becce, Thomas Bardin, Hang-Korng Ea, Georgios Filippou, John Fitzgerald, AnnaMaria Iagnocco, Frederic Liote, Geraldine M. McCarthy, Roberta Ramonda, Pascal Richette, Francisca Sivera, Mariano Andres, Edoardo Cipolletta, Michael Doherty, Eliseo Pascual, Fernando Perez-Ruiz, Alexander So, Tim L. Jansen, Minna J. Kohler, Lisa K. Stamp, Janeth Yinh, Antonella Adinolfi, Uri Arad, Thanda Aung, Eva Benillouche, Alessandra Bortoluzzi, Jonathan Dau, Ernest Maningding, Meika A. Fang, Fabiana A. Figus, Emilio Filippucci, Janine Haslett, Matthijs Janssen, Marian Kaldas, Maryann Kimoto, Kelly Leamy, Geraldine M. Navarro, Piercarlo Sarzi-Puttini, Carlo Scire, Ettore Silvagni, Silvia Sirotti, John R. Stack, Linh Truong, Chen Xie, Chio Yokose, Alison M. Hendry, Robert Terkeltaub, William J. Taylor, Hyon K. Choi
Summary: The ACR and EULAR have developed the first-ever validated classification criteria for symptomatic CPPD disease, which include the presence of calcium pyrophosphate crystals in synovial fluid and certain symptoms and laboratory findings. These criteria are of great importance for advancing research in CPPD disease.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Abhishek Abhishek, Sara K. K. Tedeschi, Tristan Pascart, Augustin Latourte, Nicola Dalbeth, Tuhina Neogi, Amy Fuller, Ann Rosenthal, Fabio Becce, Thomas Bardin, Hang Korng Ea, Georgios Filippou, John FitzGerald, AnnaMaria Iagnocco, Frederic Liote, Geraldine M. M. McCarthy, Roberta Ramonda, Pascal Richette, Francisca Sivera, Mariano Andres, Edoardo Cipolletta, Michael Doherty, Eliseo Pascual, Fernando Perez-Ruiz, Alexander So, Tim L. L. Jansen, Minna J. J. Kohler, Lisa K. K. Stamp, Janeth Yinh, Antonella Adinolfi, Uri Arad, Thanda Aung, Eva Benillouche, Alessandra Bortoluzzi, Jonathan Dau, Ernest Maningding, Meika A. A. Fang, Fabiana A. A. Figus, Emilio Filippucci, Janine Haslett, Matthijs Janssen, Marian Kaldas, Maryann Kimoto, Kelly Leamy, Geraldine M. Navarro, Piercarlo Sarzi-Puttini, Carlo Scire, Ettore Silvagni, Silvia Sirotti, John R. R. Stack, Linh Truong, Chen Xie, Chio Yokose, Alison M. M. Hendry, Robert Terkeltaub, William J. J. Taylor, Hyon K. K. Choi
Summary: The 2023 ACR/EULAR CPPD disease classification criteria have been developed to facilitate research in the field of symptomatic CPPD disease, providing excellent performance characteristics with high sensitivity and specificity.
ARTHRITIS & RHEUMATOLOGY
(2023)