scholarly journals Liver histology in short telomere syndrome: A case report and review of the literature

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S125-S125
Author(s):  
L Bai ◽  
Y Liu
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Liver Biopsy ◽  
Clinical Manifestations ◽  
Liver Histology ◽  
Nodular Regenerative Hyperplasia ◽  
Short Telomere ◽  
Hepatocellular Damage ◽  
Elevated Liver Enzymes ◽  
Tract Infections

Abstract Introduction/Objective Short telomere syndrome (STS) is a genetically inherited syndrome resulting in premature telomere shortening. STS encompasses a spectrum of clinical manifestations, including dyskeratosis congenita, premature hair graying, bone marrow failure, immunodeficiency, pulmonary fibrosis and liver disease. Liver histopathologic features in STS patients have not been well characterized. Methods/Case Report A 46-year-old man presented for dyspnea and cryptogenic cirrhosis. He had a complicated medical history significant for immune thrombocytopenic purpura and splenectomy, recurrent respiratory tract infections, pneumonia, sepsis, primary immunodeficiency, pulmonary mucosa-associated lymphoid tissue lymphoma, and severe hepatopulmonary syndrome. He and his brother had gray hair in their late 20s. He also had a long history of intermittently elevated liver enzymes starting at age 33. A liver biopsy performed 12 years before showed chronic portal inflammation with hepatocellular damage without significant fibrosis. These clinical manifestations prompted an evaluation for a possible telomere biology disorder, which revealed the telomere length was critically short and fell at or below the first percentile for age, supportive of the diagnosis. The most recent liver biopsy showed marked portal lymphocytic inflammation with interface hepatitis, bile ductular reaction and frequent foci of lobular inflammation with focal hepatocyte dropout. Some hepatocytes around the portal tracts were swollen with feathery degeneration and occasional Mallory-Denk bodies. A Rhodanine stain highlighted copper granules in the periportal hepatocytes, suggesting chronic cholestasis. Trichrome and reticulin stains demonstrated portal/periportal/pericellular/perisinusoidal fibrosis and focal bridging fibrosis. Results (if a Case Study enter NA) NA Conclusion Partly due to the rarity of STS and the risk of bleeding associated with biopsies, liver histology was described in only few limited studies with small samples of STS patients, including inflammation, nodular regenerative hyperplasia, steatohepatitis, hemosiderosis, cholestasis, cirrhosis, and large cell change of hepatocytes. Our case and others suggest liver disease associated with STS demonstrates a spectrum of histopathology. Being aware of these histomorphologic features in STS is important for establishing the correct diagnosis.

Liver Histology in Short Telomere Syndrome: A Case Report and Review of the Literature

2021 ◽  
pp. 106689692110541
Author(s):  
Lixia Bai ◽  
Charles Rohrer ◽  
Yongjun Liu
Keyword(s):  
Liver Disease ◽  
Bone Marrow Failure ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Liver Histology ◽  
Telomere Maintenance ◽  
Short Telomere ◽  
Ductular Reaction ◽  
Elevated Liver Enzymes ◽  
Tract Infections

Short telomere syndrome (STS) encompasses a broad family of genetically inherited conditions caused by various mutations in telomerase and other telomere maintenance genes, resulting in premature telomere shortening. STS involves a variety of clinical manifestations, including dyskeratosis congenita, premature achromotrichia, bone marrow failure, immunodeficiency, pulmonary fibrosis and liver disease. Liver histopathologic features in STS patients have not been well characterized. We report a 46-year-old male patient who presented for dyspnea. The patient had a complicated medical history significant for immune thrombocytopenic purpura and splenectomy, recurrent respiratory tract infections, pneumonia, primary immunodeficiency, and severe hepatopulmonary syndrome. He and his brother both developed gray hair by their late 20s. He had a long history of intermittently elevated liver enzymes starting at age 33. These clinical manifestations prompted an evaluation for a possible telomere biology disorder, which revealed the telomere length was critically short and fell at or below the first percentile for age, supporting the diagnosis. The liver biopsy showed marked portal inflammation with interface hepatitis, ductular reaction and frequent foci of lobular inflammation with focal hepatocyte dropout. Hepatocytes around the portal tracts demonstrated ballooning degeneration and occasional Mallory-Denk bodies. A trichrome stain highlighted bridging fibrosis. A literature review shows liver histology is available in only a small number of STS patients, demonstrating a variety of morphologic features. Our case and others suggest liver disease associated with STS exhibits a spectrum of histopathology. Being aware of these features is important for establishing the correct diagnosis of STS which is under recognized.

Coeliac disease and the liver: spectrum of liver histology, serology and treatment response at a tertiary referral centre

2017 ◽  
Vol 71 (5) ◽  
pp. 412-419 ◽  
Author(s):  
Kaushik Majumdar ◽  
Puja Sakhuja ◽  
Amarender Singh Puri ◽  
Kavita Gaur ◽  
Aiman Haider ◽  
...  
Keyword(s):  
Liver Disease ◽  
Liver Biopsy ◽  
Coeliac Disease ◽  
Liver Function Tests ◽  
Liver Histology ◽  
Tertiary Referral Centre ◽  
Antigliadin Antibodies ◽  
Gluten Sensitive Enteropathy ◽  
Liver Biopsies ◽  
Laboratory Investigations

BackgroundCoeliac disease (CD) is a gluten-sensitive enteropathy diagnosed on the basis of ESPGHAN criteria and clinical response to gluten-free diet (GFD). Histological abnormalities on liver biopsy have been noted in CD but have seldom been described.AimsTo assess the histological spectrum of ‘coeliac hepatitis’ and possibility of reversal of such features after a GFD.MethodsTwenty-five patients with concomitant CD and hepatic derangement were analysed for clinical profile, laboratory investigations and duodenal and liver biopsy. A histological comparison of pre- and post-GFD duodenal and liver biopsies was carried out, wherever possible.ResultsFifteen patients presenting with CD subsequently developed abnormal liver function tests; 10 patients presenting with liver disease were found to have tissue positive transglutaminase in 70% and antigliadin antibodies in 60%. Serological markers for autoimmune liver disease (AILD) were positive in eight patients. Liver histology ranged from mild reactive hepatitis, chronic hepatitis, steatosis to cirrhosis. Liver biopsies after a GFD were available in six cases, of which five showed a decrease in steatosis, portal and lobular inflammation and fibrosis score.ConclusionCoeliac hepatitis could be a distinct entity and the patients may present with either CD or secondary hepatic derangement. Evaluation for the presence of CD is recommended for patients presenting with AILD, unexplained transaminasaemia or anaemia. This is one of the very few studies demonstrating the continuum of liver histological changes in ‘coeliac hepatitis’. Trial of a GFD may result in clinicopathological improvement of ‘coeliac hepatitis’.

scholarly journals Nodular Regenerative Hyperplasia of Liver Mimicking Cirrhosis: a Case Report

2013 ◽  
Vol 2 (3) ◽  
pp. 137-140
Author(s):  
Rui-dan Zheng ◽  
Zhuo-ran Chen ◽  
Jian-neng Chen ◽  
Hui-yong Zhang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Liver Biopsy ◽  
Sinus Bradycardia ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Nodular Regenerative Hyperplasia ◽  
Resonance Imaging ◽  
Abdominal Ultrasonography ◽  
Pathologic Features

Abstract A 34-year-old man with no history of any abdominal pain or fatigue was admitted to our hospital in June 2008 due to the cirrhosis found incidentally during a physical examination. Laboratory examination, electrocardiograph, abdominal ultrasonography and magnetic resonance imaging were carried out during his hospitalization. However, according to the results of the above measures, the diagnosis of nodular regenerative hyperplasia of the liver (NRHL) could not be made. The result of electrocardiograph showed there was no sinus bradycardia. The abdominal ultrasonography showed evidence of hepatosplenomegaly, and magnetic resonance imaging showed multiple non-enhancing hepatic nodules. Histologic confirmation was available by means of liver biopsy and the definitive diagnosis of NRHL was confirmed histologically by liver biopsy. NRHL always presents with signs of portal hypertension with little evidence of obvious liver disease, NRHL may mimick the cirrhosis of liver and be easily confused with cirrhosis of the liver nodules, so liver biopsy should be recommended for correct diagnosis. We here report the clinical, radiological and pathologic features of this case with NRHL in order to familiarize the physicians with its clinical manifestations.

scholarly journals Acute Isolated Hyperbilirubinemia as a Presentation of Alcoholic Liver Disease: A Case Report and Literature Review

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Muhammad Rajib Hossain ◽  
Ramesh Kumar Pandey ◽  
Mohammad Faridul Islam ◽  
Praveen Datar ◽  
Vijay Gayam ◽  
...  
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Alcohol Consumption ◽  
Liver Function ◽  
Liver Biopsy ◽  
Literature Review ◽  
Autoimmune Hepatitis ◽  
Alcoholic Liver Disease ◽  
Chronic Alcoholism ◽  
Extrahepatic Cholestasis

Isolated hyperbilirubinemia as a manifestation of alcoholic liver disease without significant liver abnormalities is seen very rarely. We report such a case where a patient with chronic alcoholism presented to the ER with acute jaundice with bilirubin of 24.8 mg/dl, predominantly conjugated in nature along with mild elevation of AST (76 IU/L). There were no other abnormalities of the liver function. The patient underwent extensive laboratory and imaging tests that excluded extrahepatic cholestasis, viral and autoimmune hepatitis, ischemic hepatitis, and so forth. Liver biopsy excluded hemochromatosis, dysplasia, or malignancy and other differentials. Bilirubin gradually trended down to 7.3 mg/dl when alcohol consumption was stopped.

scholarly journals The Role of Liver Biopsy in the Management of Patients with Liver Disease

2003 ◽  
Vol 17 (11) ◽  
pp. 651-654
Author(s):  
Florence Wong
Keyword(s):  
Liver Disease ◽  
Liver Biopsy ◽  
Fatty Liver Disease ◽  
Liver Enzymes ◽  
Histological Evaluation ◽  
Prognostic Information ◽  
Nonalcoholic Fatty Liver ◽  
Elevated Liver Enzymes ◽  
Clinical Diagnoses

The role of liver biopsy in the diagnosis and management of liver disease is a controversial issue even among hepatologists. Although most causes of elevated liver enzymes can be determined, or at least suspected, on the basis of a careful history and laboratory tests, histological assessment remains the gold standard for most liver diseases. Histological evaluation can either confirm or refute clinical diagnoses and can provide information about the severity and stage of disease. Occasionally, the liver biopsy also provides an additional diagnosis. The spectrum of nonalcoholic fatty liver disease accounts for a substantial proportion of cases of chronically elevated liver enzymes and can be reliably diagnosed only by liver biopsy. Prognostic information can be obtained in patients with this disorder, as well as in those with alcoholic liver disease and viral hepatitis, and liver biopsy can be used as a guide to their management.

Drugs and Liver Disease: A Tabular Compilation of Drugs and the Histopathological Changes That Can Occur in the Liver

1982 ◽  
Vol 16 (7-8) ◽  
pp. 569-580 ◽  
Author(s):  
Robert A. Tucker
Keyword(s):  
Liver Disease ◽  
Liver Biopsy ◽  
Liver Diseases ◽  
Histopathological Changes ◽  
Drug Induced ◽  
Hepatocellular Damage ◽  
Reliable Source ◽  
Concise Guide ◽  
Source Of Information

A compilation of drugs and the histopathological changes that can occur in the liver is presented. The purpose of this review is to provide the reader with a comprehensive and reliable source of information on various drugs that have been documented by liver biopsy to cause hepatocellular damage. The morphologic terms used in the tables have been chosen based on past publications dealing with this subject. This review is intended as a concise guide to aid in the identification of drug-induced liver diseases.

scholarly journals Nonalcoholic Fatty Liver Disease in Patients Investigated for Elevated Liver Enzymes

2003 ◽  
Vol 17 (1) ◽  
pp. 38-42 ◽  
Author(s):  
Krikor Kichian ◽  
Ross Mclean ◽  
Leah M Gramlich ◽  
Robert J Bailey ◽  
Vincent G Bain
Keyword(s):  
Liver Disease ◽  
Liver Biopsy ◽  
Fatty Liver ◽  
Nonalcoholic Fatty Liver Disease ◽  
Nonalcoholic Steatohepatitis ◽  
Fatty Liver Disease ◽  
Liver Enzymes ◽  
Nonalcoholic Fatty Liver ◽  
Elevated Liver Enzymes ◽  
History Of

Nonalcoholic fatty liver disease (NAFLD) is a common diagnosis among patients referred to gastroenterology and hepatology clinics for the evaluation of elevated liver enzymes. The diagnosis of NAFLD is supported by blood work to exclude other liver diseases, and by ultrasound evidence of fat in the liver in patients without a significant history of alcohol intake. The gold standard, however, is a liver biopsy to show the typical histological features of NAFLD, which are almost identical to those of alcohol-induced liver damage and can range from mild steatosis to cirrhosis. A variety of retrospective series have linked NAFLD to obesity, diabetes, hyperlipidemia, total parenteral nutrition, jejunoileal bypass surgery and certain medications. A subset of patients with NAFLD that had an initial presentation of elevated liver enzymes was studied. Two hundred and two patients were reviewed, of whom 49 met the inclusion criteria including a liver biopsy. Patients were excluded if insufficient data were available, if the patients had a significant history of ethanol intake or if they had other coexisting liver disease. These patients were seen between 1996 and 2000 in gastroenterology and hepatology clinics in two community hospitals and one regional liver transplant centre in Edmonton, Alberta. NAFLD was associated with a spectrum of changes in the liver ranging from mild steatosis to more significant steatosis with inflammation and fibrosis. Cases of NAFLD with steatosis and mixed inflammatory infiltration but lacking ballooning degeneration or fibrosis were prevalent in young (20 to 40 years of age) patients with no other significant medical history except for obesity. NAFLD with biopsies showing significant fibrosis and ballooning cell degeneration was associated with obesity, diabetes and older age. It was concluded that, in this predominantly outpatient setting, age over 40 years and diabetes at any age are risk factors for both nonalcoholic steatohepatitis and nonalcoholic steatohepatitis with cirrhosis. It is therefore recommended that patients with raised liver enzymes and suspected NAFLD be targeted for liver biopsy in their evaluation.

scholarly journals Trichrome-positive intrahepatic cytoplasmic globules are potential histopathological clue for COVID-19-induced hepatitis: a case report

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Dina Sweed ◽  
Mohamed Ramadan El Shanshory ◽  
Eman Mohammed Elaskary ◽  
Hassnaa Atef Hassan ◽  
Enas Sweed ◽  
...  
Keyword(s):  
Case Report ◽  
Severe Acute Respiratory Syndrome ◽  
Liver Biopsy ◽  
Respiratory System ◽  
Hepatitis A ◽  
Liver Enzymes ◽  
Dramatic Improvement ◽  
Case Presentation ◽  
Elevated Liver Enzymes ◽  
History Of

Abstract Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection mainly affects respiratory system. Later, liver affection has also been reported in the form of marked elevated liver enzymes. However, the association of coronavirus disease-19 (COVID-19) and autoimmune diseases is not clear. Case presentation A female patient with a known history of autoimmune hemolytic anemia (AIHH) for which she was treated with prednisolone was admitted for uncontrolled anemia followed by fever and elevated liver enzymes. All the laboratory and radiological investigations were not typical for COVID-19 or any other etiology. Liver biopsy revealed numerous pale eosinophilic trichrome-positive intracytoplasmic globules. The pathology raised the suspicion for SARS-CoV-2-associated hepatitis, which was confirmed by a positive IgG titer. The patient showed a dramatic improvement on the maintenance dose of prednisolone. Conclusions AIHA patients co-infected with SARS-CoV-2 may be at risk of uncontrolled disease and should continue their treatment regimen. Histopathology has a role in the diagnosis of liver affection due to SARS-CoV-2 infection.

scholarly journals MULTI ORGAN DYSFUNCTION IN A POST-COVID PATIENT - A CASE REPORT

2021 ◽  
Vol 9 (06) ◽  
pp. 846-849
Author(s):  
Mohana Chakraborty ◽  
Keyword(s):  
Acute Pancreatitis ◽  
Case Report ◽  
Liver Disease ◽  
Virus Infection ◽  
Organ Dysfunction ◽  
Alcoholic Liver Disease ◽  
Liver Enzymes ◽  
Pulmonary Involvement ◽  
Organ Involvement ◽  
Elevated Liver Enzymes

The typical presentation of SARS-CoV-2 VIRUS infection is pulmonary involvement causing COVID 19 pneumonia. Although in recent times cases are being reported from different hospital that shows multi organ involvement due to COVID-19 virus. Acute pancreatitis is one of the main presentations .here is a case report that shows not only acute pancreatitis but elevated liver enzymes causing non alcoholic liver disease along with gallbladder involvement in a patient who was presented as COVID 19 negative.

scholarly journals Sarcoidosis and Primary Biliary Cholangitis- An Overlap

2021 ◽  
Author(s):  
Akshatha Manohar ◽  
CA Jayashankar ◽  
Nithin Kumar ◽  
Prakash Bhanu ◽  
Prathima Shivaji Rao
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Liver Biopsy ◽  
Primary Biliary Cholangitis ◽  
Cholestatic Liver Disease ◽  
Granulomatous Disease ◽  
Granulomatous Lesions ◽  
Histological Confirmation ◽  
Treatment Of Sarcoidosis

Primary Biliary Cholangitis (PBC) is a chronic progressive autoimmune cholestatic liver disease. Sarcoidosis is a multisystem chronic granulomatous disease. Both diseases are known to affect the liver causing granulomas. Sarcoidosis commonly involves the skin while PBC is associated with autoimmune skin disorders. Diagnosis of PBC requires biochemical, serological and histological confirmation. Steroids are used in the treatment of sarcoidosis. The role of steroids in the treatment of PBC is not completely established. In this case report, authors present the case of a 31-years-old female diagnosed as sarcoidosis based on granulomatous lesions in skin biopsy with concurrent PBC diagnosed on basis of serology and liver biopsy.

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