Life-threatening ventricular arrhythmia and left ventricular dysfunction associated with anti-mitochondrial antibody-positive myositis: a case report

Background Anti-mitochondrial antibody (AMA)-positive myositis is an atypical inflammatory myopathy characterized by chronic progression of muscle atrophy and cardiac involvement. Few detailed reports have shown the clinical course of the cardiac complications of AMA-positive myositis. Case summary A 47-year-old man presented with shortness of breath on exertion. Cardiac dilatation was visible on chest X-ray, and echocardiography demonstrated diffuse hypokinesis with a reduced left ventricular (LV) ejection fraction of 30%. He had mild muscle weakness in the bilateral iliopsoas muscles, and his creatine kinase (CK) and anti-mitochondrial M2 antibody levels were elevated. A liver biopsy showed no findings of primary biliary cholangitis. Coronary angiography revealed normal coronary arteries. An endomyocardial biopsy showed interstitial fibrosis and marked degeneration of the mitochondria. Fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography showed circumferential abnormal accumulation in the LV myocardium, and he was diagnosed with cardiomyopathy associated with AMA-positive myositis. Optimal drug therapy for heart failure was started, and a cardiac resynchronization therapy-defibrillator was implanted. However, his cardiac function did not improve, and he was hospitalized due to ventricular tachycardia storm 5 years after the diagnosis. Ventricular tachycardia was terminated by radiofrequency catheter ablation on the LV-anterior papillary muscle. Steroid therapy was initiated and resulted in a decreased uptake of FDG and a normalized CK level at 3 months after his second discharge; however, LV systolic dysfunction remained 1 year later. Discussion Anti-mitochondrial antibody-positive myositis can affect the myocardium and cause severe LV dysfunction and life-threatening ventricular arrhythmia over time. Keywords Anti-mitochondrial antibody-positive myositis • Endomyocardial biopsy • Ventricular tachycardia • Left ventricular dysfunction • Case report • Magnetic resonance imaging • Near-infrared spectroscopy-intravascular ultrasound

Hepatology Characteristics of patients with cryptogenic cirrhosis: a retrospective study

Backgrounds: This study aimed to achieve a better understanding of the characteristics of patients with cryptogenic cirrhosis (CC). Methods: We retrospectively enrolled 50 patients with CC between January 2018 and December 2020 who were admitted to our hospital. Clinical data, biochemical and immunological parameters, viral markers, imaging findings and liver histopathological features of the patients were analyzed. Results: The percentage of male patients with CC was 58% (29/50). The average age was 54 ± 17 years. Hepatitis C virus (HCV) IgG and hepatitis B surface antigen (HBsAg) were negative for all patients. Hepatitis B virus (HBV) DNA was tested in 68% (34/50) of the patients and the results were undetectable. Ceruloplasmin was detected in 96% (48/50) cases, while 10 cases were Kayser-fleischer ring negative. Immunological tests were conducted in 94% (47/50) of cases, antinuclear antibody (ANA) was elevated in eight cases, whereas anti-mitochondrial antibody (AMA) was elevated in three cases. Liver biopsy was conducted on 11 patients, of which seven were percutaneous and four were transjugular. Immunohistochemistry for HBsAg and HBcAg were all negative. Metavir scoring result showed that six of 11 patients had scores below G2S2. Conclusions: The common laboratory tests especially noninvasive ones were conducted for most of the patients. Diagnosis of CC requires further detection to exclude specific diagnosis such as HBV DNA or intrahepatic covalently closed circular DNA (cccDNA) in HBcAb positive patients, genetic screening of Wilson’s Disease in patients with low ceruloplasmin, etc.

Atypical presentation of autoimmune hepatitis–primary sclerosing cholangitis overlap syndrome associated with hypereosinophilia: a case report and review of the literature

Background Autoimmune hepatitis–primary sclerosing cholangitis overlap syndrome is a form of autoimmune hepatitis with cholestatic features and is characterized by negative anti-mitochondrial antibody and cholangiographic changes on magnetic resonance cholangiopancreatography or endoscopic retrograde cholangiopancreatography. Peripheral blood hypereosinophilia in conjunction with autoimmune hepatitis–primary sclerosing cholangitis overlap syndrome has not been reported yet. Here we present a case of autoimmune hepatitis–primary sclerosing cholangitis overlap syndrome with hypereosinophilia. Case presentation A 33-year-old Iranian man with the fatigue, jaundice, elevated liver enzymes and alkaline phosphatase, and hypereosinophilia was referred to our hospital. Viral and autoimmune hepatitis were excluded, and secondary workups for hypereosinophilia were all negative. Magnetic resonance cholangiopancreatography showed beaded appearance of intra- and extrahepatic biliary tree, and liver biopsy revealed interface hepatitis. Therefore, the diagnosis of autoimmune hepatitis–primary sclerosing cholangitis overlap syndrome was made, and prednisolone, azathioprine, and ursodeoxycholic acid was initiated. His jaundice and peripheral blood eosinophilia resolved after 2 weeks, and he became completely asymptomatic. Conclusion Eosinophils might contribute to the clinical presentation and disease complications.

100Identification of a latitude gradient in the prevalence of Primary Biliary Cholangitis in Australia

Background Primary biliary cholangitis (PBC) is an autoimmune destructive condition of the gall bladder, with environmental factors like sun exposure implicated in its aetiology, similar to multiple sclerosis. PBC prevalence varies significantly and appears to have a positive latitudinal gradient. To determine whether there was a latitudinal gradient of PBC prevalence in Australia using two methods of prevalence estimation: private pathology anti-mitochondrial antibody (AMA) results, the primary diagnostic test for PBC, and ursodeoxycholic acid (UDCA) prescriptions, the sole pharmacological treatment for PBC. Methods We investigated the latitudinal variation in PBC prevalence across the states and territories of Australia (latitudinal range 18.0° to 42.7°S) using pathology-based (private pathology AMA results search (three of the major private pathology companies in Australia which cover 77% of all private pathology testing) and PBC-specific prescription databases (prescriptions for UDCA). Results Pathology-based PBC prevalence was significantly increased with latitude, such that the postcodes in the highest quintile of latitude (encompassing the south coastal areas of the Australian mainland and insular Tasmania (latitude range -37.75 to -42.72)) had 1.83-times higher frequencies than those in the lowest quintile (encompassing tropical and southern Queensland (latitude range -18.02 to -27.59). Analogous results were seen for state-based UDCA prescriptions, being 2.31-times higher in Tasmania than Queensland. Conclusions We have found for the first time that the prevalence of PBC significantly varies with latitude in Australia. While the most immediate mediating factors underlying this association would be ultraviolet radiation and vitamin D levels, studies to substantiate this mechanism are needed. Key messages In line with some other autoimmune conditions, PBC shows a significant positive latitudinal gradient, with nearly 2-times higher prevalence in the southernmost state than the northernmost.

Case Report: Acute presentation of autoimmune hepatitis in a male patient

Introduction: Autoimmune hepatitis (AIH) is one of the major immune mediated chronic liver diseases. It typically affects young and middle-aged females. Acute liver failure (ALF) is an unusual initial form of presentation of AIH and is particularly rare in male patients. Consequently, the clinical characteristics and optimal management of this entity remain poorly defined. Patients with AIH sometimes present features of the spectrum of primary biliary cholangitis (PBC), simultaneously or consecutively, suggesting the diagnosis of overlap syndrome (OS) PBC- AIH. Data concerning PBC-AIH has been scarcely published and mainly comprises small retrospective studies. Case presentation: Herein, we report the case of a 40-year-old man with no history of any chronic liver disease, who presented with ALF. After carrying out extensive etiological screening, we suspected him of having ALF due to auto-immune liver disease namely AIH. The positivity of anti-mitochondrial antibody (AMA) which is a significant serologic marker of PBC, suggested a diagnosis of OS PBC- AIH. Since urgent liver transplantation could not be performed in our country (Tunisia), the only available therapeutic option was the administration of corticosteroids. During the two years of follow up and treatment with ursodeoxycholic acid, azathioprine and a low dose of prednisolone, our patient is still asymptomatic with normal hepatic function tests. Conclusion: ALF due to AIH in a male patient is a very rare condition. The diagnosis should be considered in all patients with acute hepatitis of undetermined etiology. Corticosteroids were an effective and lifesaving therapeutic option. The association of AIH and PBC features could suggest an OS.

A Case Report on Methimazole-Induced Cholestatic Jaundice in an Elderly Man With Hyperthyroidism

Background: The early detection and diagnosis of the causes of jaundice in a hyperthyroid patient taking antithyroid medications are paramount for the appropriate management of these patients. Clinical Case: A 72 year old male is admitted due to septic shock secondary to pneumonia and funguria, acute kidney injury secondary to sepsis, type 2 diabetes mellitus, uncontrolled and Graves’ disease with thyroid nodules (Tirads 4). On physical examination, he has icteresia and generalized jaundice. Methimazole was started 12 days ago. Initial tests were consistent with a cholestatic pattern of jaundice: slightly elevated alanine aminotransferase 70 U/L (16-63), aspartate aminotransferase 84 U/L (15-37) and significantly elevated alkaline phosphatase 662 U/L (46-116), total bilirubin 12.16 mg/dl (0.20-1.0), conjugated bilirubin 11.29 mg/dl (0-0.20) and unconjugated bilirubin 0.87 mg/dl (0-0.80). He has hypoalbuminemia and normal prothrombin time. He has negative anti-Smith antibody, anti-ribonucleoprotein, anti-mitochondrial antibody, and positive anti-nuclear antibody 1:160 speckled pattern. Hepatitis Profile showed chronic hepatitis A infection. Upper Abdomen Ultrasound showed ill-defined border in the left hepatic lobe; intrahepatic ducts and common bile duct are not dilated; gallbladder is contracted with no evident intraluminal echoes. Whole Abdomen with 4-phase Dynamic Liver CT Scan showed multiple ill-defined hypoattenuating lesions in the entire liver parenchyma; intrahepatic ducts, common bile duct, and pancreatic duct are not dilated; and gallbladder is normal in size without intraluminal calculus with possible metastases at spleen, left adrenal gland and tail of pancreas. He has normal AFP and elevated CEA. Methimazole was discontinued at admission and was started on Hydrocortisone 100 mg/IV every 8 hrs. Repeat liver profile panel showed decreasing trends after 4 days of holding methimazole. Repeat fT4 after 6 days of high dose hydrocortisone showed a decrease from 3.09 ng/dl to 1.98 ng/dl (0.89-1.76). Hydrocortisone was continued and tapered accordingly. Plans for RAI discussed. Conclusion: This case emphasizes the need to be vigilant for the very rare but serious adverse events of antithyroid medications.