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Background: IgD multiple myeloma (MM) is a rare subtype of MM and light chain deposition disease (LCDD) outside the kidney is also a rare and has scarcely been reported. We report herein the details of the first reported case of LCDD involving the kidney and liver co-occurring with IgD myeloma., Case Presentation: A 66-year-old female with IgD MM presented with rapidly progressive acute renal failure, ascites and pleural effusion. Immunofluorescent study of revealed the characteristic linear deposition of Igκ light chain along the glomerular and tubular basement membrane in kidney. Electron microscopy showed the powdery electron-dense deposits along the tubular and glomerular basement membrane consistent with the diagnosis of LCDD. Laser microdissection followed by mass spectrometry identified only Igκ light chain with more than 95% probability confirm the diagnosis of κ-LCDD but not heavy/light chain deposition disease. Liver biopsy with immunofluorescence study revealed the linear deposition of Igκ chain along the perisinusoidal space indicating the hepatic involvement of κ-LCDD. The patient was successfully treated with combination therapy with bortezomib, cyclophosphamide, dexamethasone, and daratumumab., Conclusions: This report emphasizes that prompt biopsy of affected organs and initiation of clone directed therapy led to the correct diagnosis and favorable outcome in patient with LCDD who has extrarenal involvement.

Background: Liver involvement is not considered a typical extra-articular manifestation and has rarely been studied in rheumatoid arthritis (RA). We aimed to identify the prevalence and aetiologies of liver disease in RA patients., Methods: A cross-sectional study included 150 patients with RA enrolled over 5 years (2010- 2015). The clinical and paraclinical features of RA were analyzed. The clinical and biological characteristics of liver impairment and its aetiologies were collected., Results: One hundred and fifty RA patients (124 women) with a mean age of 57.09 years and a mean RA duration of 7.52 years were included. Liver involvement was diagnosed in 66 patients (44%). The liver disease was asymptomatic in 94% of the cases, revealed by increased gammaglutamyl transferase levels in 74% of the patients. The aetiologies of liver involvement were hepatotoxicity of medications in 38 cases (57%), hepatitis B and C in 14 patients (21%), fatty liver disease in 10 cases (15%), autoimmune liver disease in 2 patients (3%), hydatid cyst in 1 case (2%), and liver angiomas in 1 case (2%). Non-steroidal anti-inflammatory drugs and methotrexate were the drugs most often involved in the genesis of hepatotoxicity (21% and 20% of the cases, respectively)., Conclusion: Liver involvement occurred in 44% of RA patients. Aetiologies were mainly hepatotoxicity and viral hepatitis B and C. Patients with RA should be systematically screened for liver disease, which is rarely symptomatic., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Hepatic abnormalities in patients with lymphoproliferative disorders are common and can occur from direct infiltration by abnormal cells, bile duct obstruction, paraneoplastic syndrome, hemophagocytic syndrome, drug-induced liver injury, opportunistic infections, and reactivation of viral hepatitis. Hepatic involvement by lymphoma is often in association with systemic disease and rarely seen as a primary hepatic lymphoma. Vanishing bile duct syndrome is a well-known complication of Hodgkin disease. Antiviral prophylaxis for hepatitis B virus (HBV) reactivation is recommended for all HBsAg +  patients undergoing chemotherapy and all resolved HBV patients undergoing rituximab therapy and stem cell transplantation., (Copyright © 2018 Elsevier Inc. All rights reserved.)

A 48 years-old-woman was admitted for anectric cholestasis. A history of recurrent personal and familial epistaxis was noted. Biologic findings revealed iron deficiency anemia and moderate cholestasis. Viral serologic tests, antimitochondrie and anti smooth muscle antibodies were negative. Abdominal tomography showed multiple arterio-venous shunts of the liver. The diagnosis of liver involvement due to Rendu Osler disease was made. Treatment with oral ferrous iron of 150 mg/day was administered and regular biological and morphologic controls of liver was decided., Competing Interests: Conflits d’intérêts Les auteurs ne déclarent aucun conflit d’intérêts.

The aim of the study was to investigate the incidence, the clinical course and outcome of liver involvement and autoimmune hepatic diseases in patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Liver function tests (LFT) (i.e. aspartate and alanine aminotransferase [AST, ALT], gamma-glutamyl transpeptidase [gamma-GT], alkaline phosphatase [ALP] and total bilirubin) were analysed at disease onset in therapy-naïve patients and during remission in patients with granulomatosis with polyangiitis (GPA, n = 67), microscopic polyangiitis (MPA, n = 28) and eosinophilic granulomatosis with polyangiitis (EGPA, n = 14). Results were correlated to the Birmingham Vasculitis Activity Score version 3 (BVAS v.3). Also, serologic tests for other autoimmune hepatic diseases were performed in these patients. During the active state, LFT abnormalities could be detected in 54 AAV patients (49.4 %). ALT, gamma-GT and ALP were significantly higher in GPA patients compared to MPA or EGPA patients at disease onset (p < 0.05). Increased values for gamma-GT in GPA patients correlated with the BVAS (p < 0.01) and were associated with pulmonary involvement, pulmonary-renal syndrome and a longer time to remission. Increased LFT in GPA patients decreased subsequently towards normal levels after initiation of therapy (p < 0.01). No case of severe liver involvement or autoimmune hepatic liver diseases was found in AAV patients. Liver involvement was mainly restricted to GPA patients, is associated with the disease activity and indicates a poorer outcome in patients with GPA. Progressive liver involvement or autoimmune hepatic diseases were not observed.

Background: α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the onset of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive lipid storage disorder, characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly and liver steatosis. Case presentation: We describe here a 5-years-old Brazilian child who presented with NCIE at birth and diffuse micro and macro-vesicular steatosis on liver biopsy since she was 2 years old. Molecular analysis of coding sequence and putative 5′ regulatory region of ABHD5 gene was performed. A homozygous novel deletion, affecting the promoter region and the exon 1, was identified, confirming the suspected diagnosis of CDS for this patient. RT-PCR analysis showed that the genomic rearrangement completely abolished the ABHD5 gene expression in the patient, while only a partial loss of expression was detected in her parents. This is the first report describing the identification of a large deletion encompassing the promoter region of ABHD5 gene. The total loss of ABHD5 expression may explain the early onset of CDS and the severe liver involvement. After molecular diagnosis, the patient started a special diet, poor in fatty acids with medium chain triglycerides (MCT), and showed hepatic and dermatologic improvement in spite of severe molecular defect. Conclusions: This case report extends the spectrum of disease-causing ABHD5 mutations in CDS providing evidence for a novel pathogenic mechanism for this rare disorder. Moreover, our preliminary data show that early diagnosis and prompt treatment of neutral lipid accumulation might be useful for CD patients. [ABSTRACT FROM AUTHOR]

Purpose: Liver involvement in syphilis has been studied in cohorts of human immunodeficiency virus (HIV)-negative individuals despite the scarcity of data on such HIV-infected patients. Th aim of this study was to assess hepatic involvement of HIV-infected patients diagnosed with syphilis. Methods: Patients with syphilis and liver involvement, including all stages of syphilis, were systematically identified in our HIV cohort between 2004 and 2008. Results: Of the 1,599 HIV-infected patients identified during the study period, 100 were diagnosed with acute syphilis, all of whom were male. Of these 100 patients, 84 % were men who have sex with men. Laboratory parameters of liver involvement were present in 19 of the 100 HIV-infected patients with syphilis; these resolved after successful antibiotic treatment. Among these 19 patients, six were diagnosed to be in the latent stage, with elevated liver enzymes and parameters of inflammation representing the only distinctive feature. Conclusions: Based on our results, syphilis should be included in the differential diagnosis of increased liver enzymes in HIV-infected patients. [ABSTRACT FROM AUTHOR]

Abstract: Aim: Familial Mediterranean fever is characterised by recurrent, febrile, inflammatory attacks of the serosal membranes. Prolonged inflammatory response is triggered secondary to cytokine stimulation due to reduced activity of pyrin. Inflammatory cytokines play major role in the pathogenesis of acute liver injury; and chronic, recurrent cytokine production may cause chronic hepatitis/cirrhosis. We aimed to analyse liver involvement in children with Familial Mediterranean fever. Patients: The study included 58 patients with Familial Mediterranean fever. Patients with liver involvement were examined in detail. Results: Liver involvement was seen in 11 of 58 patients (18.9%). Two patients (3.4%) had abnormal liver enzymes during the diagnostic evaluation, whilst 9 patients (15.5%) were admitted with the features of liver diseases, and had final diagnosis of Familial Mediterranean fever (2 had Budd–Chiari syndrome, 5 had chronic hepatitis/cirrhosis, 2 had acute hepatitis). None of the demographic factors or laboratory findings was different between the patients with or without liver involvement M694V allele was more common in patients with liver involvement but did not reach significant difference (50% vs. 33.6%, p =0.21). All the patients showed clinical and laboratory improvement after colchicine. Conclusion: Paediatric hepatologists must keep Familial Mediterranean fever in mind in the patients with cryptogenic hepatitis/cirrhosis especially in regions where hereditary inflammatory diseases are common. [Copyright &y& Elsevier]

Liver involvement in Langerhans cell histiocytosis (LCH) typically presents with hepatomegaly and other signs of liver dysfunction. We present an 11-month-old child having only minimally elevated liver enzymes as an indication of liver involvement. Using sonography as the initial diagnostic tool followed by MRI, LCH of the liver was revealed. A review of sonographic, CT, MRI and MR cholangiopancreatography findings in liver LCH is presented. We recommend that physicians consider sonography and MRI screening for liver involvement in patients with newly diagnosed LCH, as periportal involvement may be present with little or no liver function abnormality present, as in this patient. [ABSTRACT FROM AUTHOR]