scholarly journals Unexplained Findings of Kayser-Fleischer-Like Rings in a Patient with Cryptogenic Cirrhosis

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Mahreema Jawairia ◽  
Miral Subhani ◽  
Ghulam Siddiqui ◽  
Apsara Prasad ◽  
Ghulamullah Shahzad ◽  
...  
Keyword(s):  
Liver Disease ◽  
Wilson’S Disease ◽  
The United States ◽  
Wilson's Disease ◽  
Biliary Cirrhosis ◽  
Excessive Alcohol Consumption ◽  
Common Cause ◽  
Nonalcoholic Fatty Liver ◽  
Cryptogenic Cirrhosis ◽  
Alpha 1 Antitrypsin Deficiency

Cryptogenic cirrhosis (CC) is defined as cirrhosis occurring in an individual without an identifiable cause of liver disease, such as excessive alcohol consumption, viral hepatitis infection, hemochromatosis, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis, chronic intake of medications that could induce cirrhosis, alpha-1-antitrypsin deficiency, Wilson’s disease, or any other rare cause of cirrhosis according to the clinical context. Cryptogenic cirrhosis is a common cause of liver-related morbidity and mortality in the United States. Nonalcoholic fatty liver disease is now recognized as the most common cause of cryptogenic cirrhosis. A biopsy specimen is also important for detecting histological advanced disease, which may be clinically silent and undetected by liver-related tests or diagnostic imaging. We are presenting an unusual case of a patient with cryptogenic cirrhosis found to have Kayser-Fleischer-like rings without evidence of Wilson’s disease.

scholarly journals Pathologic Diagnosis of Nonalcoholic Fatty Liver Disease

2021 ◽  
Author(s):  
Jinping Lai ◽  
Hanlin L. Wang ◽  
Xuchen Zhang ◽  
Huamin Wang ◽  
Xiuli Liu
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Nonalcoholic Fatty Liver Disease ◽  
Immune Checkpoint ◽  
Fatty Liver Disease ◽  
Checkpoint Inhibitors ◽  
The United States ◽  
Nonalcoholic Fatty Liver ◽  
Cryptogenic Cirrhosis ◽  
Alcoholic Steatohepatitis

Context.— Nonalcoholic fatty liver disease (NAFLD) encompasses steatosis and steatohepatitis. The cause may be multifactorial, and diagnosis requires correlation with clinical information and laboratory results. Objective.— To provide an overview of the status of histology diagnosis of steatosis, steatohepatitis, and associated conditions. Data Sources.— A literature search was performed using the PubMed search engine. The terms ‘‘steatosis,'' ‘‘steatohepatitis,'' ‘‘nonalcoholic fatty liver disease (NAFLD),'' ‘‘nonalcoholic steatohepatitis (NASH),'' “alcoholic steatohepatitis (ASH),” ‘‘type 2 diabetes (T2DM),'' “cryptogenic cirrhosis,” “drug-induced liver injury (DILI),” “immune checkpoint inhibitor therapy,” and “COVID-19 and liver” were used. Conclusions.— Nonalcoholic fatty liver disease has become the most common chronic liver disease in the United States. NASH is the progressive form of nonalcoholic fatty liver disease. The hallmarks of steatohepatitis are steatosis, ballooned hepatocytes, and lobular inflammation. NASH and alcoholic steatohepatitis share similar histologic features, but some subtle differences may help their distinction. NASH is commonly seen in patients with metabolic dysfunction but can also be caused by other etiologies. Examples are medications including newly developed immune checkpoint inhibitors and viral infections such as coronavirus disease 2019 (COVID-19). NASH is also a common cause of cryptogenic cirrhosis but can be reversed. The results from recent clinical trials for NASH treatment are promising in reducing the severity of steatosis, ballooning, and fibrosis.

Genetic liver disease

2018 ◽  
Author(s):  
Satish Keshav ◽  
Palak Trivedi
Keyword(s):  
Liver Disease ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Genetic Disorder ◽  
Wilson's Disease ◽  
Hereditary Haemochromatosis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Total Body

This chapter discusses three of the major inherited forms of liver disease (all autosomal recessive): hereditary haemochromatosis, Wilson’s disease, and alpha-1-antitrypsin deficiency. Hereditary haemochromatosis is characterized by excessive absorption of dietary iron, with a pathological increase in total body iron that accumulates in tissues and organs, disrupting their function. Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive genetic disorder in which copper accumulates in tissues. Alpha-1-antitrypsin deficiency is characterized by reduced circulating levels of alpha-1-antitrypsin, a liver-derived protease inhibitor, and accumulation within the hepatocytes of the abnormal, poorly degraded protein; the consequent excessive activity of proteases such as elastase in pulmonary alveoli, unopposed by protease inhibitors, leads to emphysema, and the accumulation of alpha-1-antitrypsin in hepatocytes causes liver dysfunction.

Oxidative Stress in Nonalcoholic Fatty Liver Disease: Pathogenesis and Antioxidant Therapies

2004 ◽  
Vol 52 (8) ◽  
pp. 506-514
Author(s):  
Samer Gawrieh ◽  
Emmanuel C. Opara ◽  
Timothy R. Koch
Keyword(s):  
Oxidative Stress ◽  
Liver Disease ◽  
Fatty Liver ◽  
Nonalcoholic Fatty Liver Disease ◽  
Fatty Liver Disease ◽  
The United States ◽  
Common Finding ◽  
Common Cause ◽  
Nonalcoholic Fatty Liver ◽  
Liver Insulin Resistance

Nonalcoholic fatty liver disease is a common cause of chronic liver disease, a common finding on liver biopsy in those patients with abnormal blood transaminase levels, and a common cause of cryptogenic cirrhosis in the United States. The prevalence of this disorder is expected to rise with the increase in obesity, and the clinical spectrum can range from simple steatosis (fatty liver) to cirrhosis of the liver. Insulin resistance is thought to be pivotal for the development of steatosis, and oxidative stress may be a potential factor that can promote hepatic necroinflammation and fibrosis. Preliminary studies have examined the role of oxidative stress and antioxidants in animal and human studies of this disorder. Efforts to improve the hepatic antioxidant system could be achieved by optimizing the patient's diet, by supplementation with precursors for antioxidants, or by supplementation with essential metals and/or antioxidants. Randomized, controlled trials are required to examine these potential approaches using patients with this disorder.

Primary Biliary Cirrhosis

2015 ◽  
Author(s):  
Daniel S. Pratt ◽  
Lindsay Y. King
Keyword(s):  
Differential Diagnosis ◽  
Liver Disease ◽  
Primary Biliary Cirrhosis ◽  
Liver Diseases ◽  
American Association ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Common Cause ◽  
History Of

Primary biliary cirrhosis (PBC) is a progressive autoimmune disease of the liver. It is the most common cause of chronic intrahepatic cholestatic liver disease in adults. This review addresses the epidemiology, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, complications, and prognosis of PBC. Figures show the pathogenesis and natural history of PBC and histologic features of the four stages of PBC. Tables list diagnostic criteria for PBC via the American Association for the Study of Liver Diseases, differential diagnosis for PBC, medications used to treat PBC, secondary therapy for PBC, and follow-up of patients with PBC. This review contains 2 highly rendered figures, 5 tables, and 45 references.

scholarly journals Mechanisms of liver injury in high fat sugar diet fed mice that lack hepatocyte X-box binding protein 1

PLoS ONE ◽  
2022 ◽  
Vol 17 (1) ◽  
pp. e0261789
Author(s):  
Xiaoying Liu ◽  
Sarah A. Taylor ◽  
Kyle D. Gromer ◽  
Danny Zhang ◽  
Susan C. Hubchak ◽  
...  
Keyword(s):  
Liver Disease ◽  
Liver Injury ◽  
Cell Activation ◽  
Stellate Cell ◽  
Binding Protein ◽  
The United States ◽  
High Fat ◽  
Altered Expression ◽  
Nonalcoholic Fatty Liver ◽  
End Stage

Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of liver diseases in the United States and can progress to cirrhosis, end-stage liver disease and need for liver transplantation. There are limited therapies for NAFLD, in part, due to incomplete understanding of the disease pathogenesis, which involves different cell populations in the liver. Endoplasmic reticulum stress and its adaptative unfolded protein response (UPR) signaling pathway have been implicated in the progression from simple hepatic steatosis to nonalcoholic steatohepatitis (NASH). We have previously shown that mice lacking the UPR protein X-box binding protein 1 (XBP1) in the liver demonstrated enhanced liver injury and fibrosis in a high fat sugar (HFS) dietary model of NAFLD. In this study, to better understand the role of liver XBP1 in the pathobiology of NAFLD, we fed hepatocyte XBP1 deficient mice a HFS diet or chow and investigated UPR and other cell signaling pathways in hepatocytes, hepatic stellate cells and immune cells. We demonstrate that loss of XBP1 in hepatocytes increased inflammatory pathway expression and altered expression of the UPR signaling in hepatocytes and was associated with enhanced hepatic stellate cell activation after HFS feeding. We believe that a better understanding of liver cell-specific signaling in the pathogenesis of NASH may allow us to identify new therapeutic targets.

Association of PNPLA3 I148M with liver disease biomarkers in Latinos

2021 ◽  
Author(s):  
Jonathan D. Roe ◽  
Luis A. Garcia ◽  
Yann C. Klimentidis ◽  
Dawn K. Coletta
Keyword(s):  
Liver Disease ◽  
Liver Fibrosis ◽  
Linear Regression ◽  
The United States ◽  
Genotype Distribution ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Nonalcoholic Fatty Liver ◽  
Disease Biomarkers ◽  
Nafld Fibrosis Score

Introduction. Liver disease accounts for approximately 2 million deaths per year worldwide. The majority of liver diseases are due to complications of cirrhosis, viral hepatitis, and hepatocellular carcinoma. Increased levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may indicate liver disease. Moreover, there are additional noninvasive liver fibrosis indices that help to estimate liver damage, including AST to ALT ratio, AST to platelet ratio index (APRI), fibrosis-4 (FIB-4) score, and nonalcoholic fatty liver disease (NAFLD) fibrosis score. The aims of the present study were to (1) perform an association analysis of the patatin-like phospholipase domain containing 3 (PNPLA3) I148M (rs738409) variant with ALT, AST, and various liver fibrosis indices, and (2) determine whether there are gender related-differences in these associations. Methods. We obtained demographic, anthropometric, and metabolic phenotypes from Latino adult participants (n = 503, 64% female, 36.4 ± 0.5 years) from the Arizona Insulin Resistance (AIR) registry. SNP genotyping of I148M was performed using the TaqMan allelic discrimination assay. We used linear regression for the association analyses of the genotypes with ALT, AST, and the various liver fibrosis indices. We included genotype, age, body mass index (BMI), and alcohol status in the linear regression model. Results. The variant I148M was in Hardy-Weinberg equilibrium, with genotype distribution: non-risk CC = 118, heterozygous CG = 246, and risk GG = 139. The G allele was significantly associated with increased ALT and AST levels (p = 7.8 x 10-7 and p = 9.7 x 10-6, respectively). Moreover, we showed that the G allele was significantly associated with higher APRI (p = 3.7 x 10-7) and FIB-4 score (p = 4.1 x 10-3). When we analyzed the data by gender, we observed similar significant trends for ALT, AST, and APRI (all, p < 0.01). In females, the G allele was significantly associated with increased FIB-4 score (p = 6.9 x 10-3), which was not observed in the males (p > 0.05). There was no association of the I148M variant with AST/ALT ratio nor NAFLD risk score, whether analyzed in all adults or by gender. Discussion/Conclusion. Our findings provide additional evidence of an association of PNPLA3 I148M with several liver disease biomarkers in male and female Latinos residing in the Southwest of the United States.

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

2020 ◽  
pp. 2115-2120
Author(s):  
Michael L. Schilsky ◽  
Pramod K. Mistry
Keyword(s):  
Liver Disease ◽  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Menkes Disease ◽  
Wilson's Disease ◽  
Copper Transport ◽  
Loss Of Function ◽  
Copper Excretion ◽  
P Type

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described, each with distinct phenotypes. Wilson’s disease—an uncommon disorder (1 in 30 000) caused by autosomal recessive loss-of-function mutations in a metal-transporting P-type ATPase (ATP7B) that result in defective copper excretion into bile and hence copper toxicity. Typical presentation is in the second and third decade of life with liver disease (ranging from asymptomatic to acute fulminant hepatic failure or chronic end-stage liver disease) or neurological or psychiatric disorder (dystonia, dysarthria, parkinsonian tremor, movement disorder, a spectrum of psychiatric ailments). While no single biochemical test or clinical finding is sufficient for establishing the diagnosis, typical findings include low serum ceruloplasmin, high urinary copper excretion, and elevated liver copper content. Corneal Kayser–Fleischer rings may be seen. Treatment is with copper chelating agents and zinc. Liver transplantation is required for fulminant hepatic failure and decompensated liver disease unresponsive to medical therapy. Menkes’ disease—a rare disorder (1 in 300 000) caused by X-linked loss-of-function mutations in a P-type ATPase homologous to ATP7B (ATP7A) that result in defective copper transport across intestine, placenta, and brain and hence cellular copper deficiency. Clinical presentation is in infancy with facial dimorphism, connective tissue disorder, hypopigmentation, abnormal hair, seizures, and failure to thrive, usually followed by death by age 3 years (although some variants with a milder phenotype result from milder mutations, e.g. occipital horn syndrome). Treatment, which is only effective when presymptomatic diagnosis is made in a sibling after florid presentation in a previous affected sibling, is with intravenous copper histidine.

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