Hemochromatosis related Arthropathy Abstract. Hemochromatosis is an autosomal recessive disease that is caused by an HFE gene mutation (High Iron Fe) in most patients. Pathophysiologically, the effect of the mutation is an increased iron absorption in the gut. It is a systemic disorder which, in addition to the involvement of the musculoskeletal system (MSK), can lead to a diabetic metabolic state, liver cirrhosis and skin discoloration, as well as other organ manifestations such as cardiopathy or hypogonadism in the late stages. MSK complications include arthropathy in the form of osteoarthritis, typically of the MCP 2 and 3 joints, and calcium pyrophosphate-associated (CPPD) arthritis. Osteoporosis, as a further complication, is multifactorial. The therapy of hemochromatosis consists of phlebotomy, oral therapy with iron chelators is also possible. Although, these measures have a positive effect on the development of organ complications such as liver cirrhosis, they show little effect on the MSK manifestations, which are treated in analogy to the idiopathic osteoarthritis or pseudogout. The same is true for osteoporosis.
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http://dx.doi.org/10.1024/0040-5930/a000994 | DOI Listing |
Nat Rev Gastroenterol Hepatol
January 2025
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Ministerio de Sanidad, Madrid, Spain.
Two main stages are differentiated in patients with advanced chronic liver disease (ACLD), one compensated (cACLD) with an excellent prognosis, and the other decompensated (dACLD), defined by the appearance of complications (ascites, variceal bleeding and hepatic encephalopathy) and associated with high mortality. Preventing the progression to dACLD might dramatically improve prognosis and reduce the burden of care associated with ACLD. Portal hypertension is a major driver of the transition from cACLD to dACLD, and a portal pressure of ≥10 mmHg defines clinically significant portal hypertension (CSPH) as the threshold from which decompensating events may occur.
View Article and Find Full Text PDFActa Pharmacol Sin
January 2025
Department of Medical Microbiology & Parasitology, MOE/NHC/CAMS Key Laboratory of Medical Molecular Virology, School of Basic Medical Sciences, Fudan University Shanghai Medical College, Shanghai, 200032, China.
Metabolic dysfunction-associated steatotic liver disease (MASLD) covers a broad spectrum of profile from simple fatty liver, evolving to metabolic dysfunction-associated steatohepatitis (MASH), to hepatic fibrosis, further progressing to cirrhosis and hepatocellular carcinoma (HCC). MASLD has become a prevalent disease with 25% in average over the world. MASH is an active stage, and requires pharmacological intervention when there is necroptotic damage with fibrotic progression.
View Article and Find Full Text PDFNat Med
January 2025
Department of Cardiovascular Medicine, Cleveland Clinic, Cleveland, OH, USA.
No therapy has been shown to reduce the risk of major adverse liver outcomes (MALO) in patients with cirrhosis due to metabolic dysfunction-associated steatohepatitis (MASH). The Surgical Procedures Eliminate Compensated Cirrhosis In Advancing Long-term (SPECCIAL) observational study compared the effects of metabolic surgery and nonsurgical treatment in patients with obesity and compensated histologically proven MASH-related cirrhosis. Using a doubly robust estimation methodology to balance key baseline characteristics between groups, the time-to-incident MALO was compared between 62 patients (68% female) who underwent metabolic surgery and 106 nonsurgical controls (71% female), with a mean follow-up of 10.
View Article and Find Full Text PDFPLoS One
January 2025
School of Public Health, Anhui University of Science and Technology, Hefei, China.
A number of studies demonstrate the therapeutic effectiveness of Radix Bupleuri (RB) and Hedysarum Multijugum Maxim (HMM) in treating liver fibrosis, but the exact molecular mechanisms remain unclear. This study aims to explore the mechanism of RB-HMM drug pairs in treating liver fibrosis by using network pharmacology, bioinformatics, molecular docking, molecular dynamics simulation technology and in vitro experiments. Totally, 155 intersection targets between RB-HMM and liver fibrosis were identified.
View Article and Find Full Text PDFInflammation
January 2025
Department of Pharmacy, Chinese PLA General Hospital, Beijing, China.
Cholestasis is a multifactorial hepatobiliary disorder, characterized by obstruction of bile flow and accumulation of bile, which in turn causes damage to liver cells and other tissues. In severe cases, it can result in the development of life-threatening conditions, including cirrhosis and liver cancer. Paeoniflorin (PF) has been demonstrated to possess favourable therapeutic potential for the treatment of cholestasis.
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