Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist

Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the mononuclear phagocyte system, may progress to disabling and potentially life-threatening complications when left undiagnosed and untreated. Unfortunately, because of non-specific signs and symptoms and lack of awareness, patients with type 1 GD, the most common non-neuropathic variant, frequently experience diagnostic delays. Since splenomegaly and thrombocytopenia are the dominant clinical features in many GD patients leading to first medical contact, the hepatologist and the gastroenterologist need to be aware of this condition.
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Review Article Source Type: research

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CONCLUSION: When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered. PMID: 33033573 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
CONCLUSION: GA-MRI is an effective noninvasive method that may be useful for the differentiation of NASH from isolated steatosis, and could help to avoid liver biopsy in patients with NAFLD. PMID: 33033571 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Philips CA, Ahamed R, Rajesh S, George T, Mohanan M, Augustine P Abstract With growing antipathy toward conventional prescription drugs due to the fear of adverse events, the general and patient populations have been increasingly using complementary and alternative medications (CAMs) for managing acute and chronic diseases. The general misconception is that natural herbal-based preparations are devoid of toxicity, and hence short- and long-term use remain justified among people as well as the CAM practitioners who prescribe these medicines. In this regard, Ayurvedic herbal medications have become one of th...
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Chung W, Promrat K, Wands J Abstract Diabetes mellitus (DM) negatively affects the development and progression of chronic liver diseases (CLD) of various etiologies. Concurrent DM and CLD are also associated with worse clinical outcomes with respect to mortality, the occurrence of hepatic decompensation, and the development of hepatocellular carcinoma (HCC). Unfortunately, early diagnosis and optimal treatment of DM can be challenging, due to the lack of established clinical guidelines as well as the medical complexity of this patient population. We conducted an exploratory review of relevant literature to...
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Arab JP, Dirchwolf M, Álvares-da-Silva MR, Barrera F, Benítez C, Castellanos-Fernandez M, Castro-Narro G, Chavez-Tapia N, Chiodi D, Cotrim H, Cusi K, de Oliveira CPMS, Díaz J, Fassio E, Gerona S, Girala M, Hernandez N, Marciano S, Masson W, Mendez-Sanchez N, Leite N, Lozano A, Padilla M, Panduro A, Paraná R, Parise E, Perez M, Poniachik J, Restrepo JC, Ruf A, Silva M, Tagle M, Tapias M, Torres K, Vilar-Gomez E, Costa Gil JE, Gadano A, Arrese M Abstract Non-alcoholic fatty liver disease (NAFLD) currently represents an epidemic worldwide. NAFLD is the most frequently diagnosed chr...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
CONCLUSION: The ultrasonography measure of right liver lobe diameter by itself can reliably identify patients with NAFLD with a good sensitivity and specificity, however, this can be improved by adding the LAP mathematical index in our population. PMID: 33031969 [PubMed - as supplied by publisher]
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
AbstractAbstractCancer patients with acute coronary syndrome (ACS) have significantly greater mortality compared with non-cancer patients. This risk is partly directly attributable to the malignancy; however these patients are frequently undertreated with respect to guideline recommended treatments for ACS due to higher bleeding risks from anemia and thrombocytopenia. Due to exclusion from large clinical trials, there is a paucity of data regarding how to best treat these complex and high-risk patients.Purpose of ReviewTo review the literature and identify risk factors among cancer patients associated with poor outcomes, p...
Source: Current Cardiology Reports - Category: Cardiology Source Type: research
In conclusion, in this database study of elderly patients coded with NAFLD no independent association with incident dementia was detected. Risk assessment regarding dementia in patients with NAFLD should be carried out in the same way as for metabolic burdened patients.
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research
AbstractCirrhosis describes the development of excess fibrous tissue around regenerative nodules in response to chronic liver injury and usually leads to irreversible organ damage and end-stage liver disease. During the development of cirrhosis, the formation of collagenous scar tissue is paralleled by a reorganization and remodeling of the hepatic vascular system. To date, macrovascular remodeling in various cirrhosis models has been examined using three-dimensional (3D) imaging modalities, while microvascular changes have been studied mainly by two-dimensional (2D) light microscopic and electron microscopic imaging. Here...
Source: Angiogenesis - Category: Molecular Biology Source Type: research
ConclusionmiR-199a-5p might be an essentail regulator for hepatic lipid metabolism, possibly through its interction with MST1 and the subsequent signaling cascade. Thus,  miR-199a-5p may serve as an important therapeutic target in the treatment of NAFLD.
Source: Hepatology International - Category: Infectious Diseases Source Type: research
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