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https://www.readbyqxmd.com/read/29655841/lysosomal-acid-lipase-deficiency-allograft-recurrence-and-liver-failure-clinical-outcomes-of-18-liver-transplantation-patients
#1
REVIEW
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, Helen Remotti, Thomas Schiano, Maria Isabel Fiel, Manisha Balwani
Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation were unsuccessful at preventing multi-systemic disease progression, and were associated with significant morbidity and mortality. We report two sisters, diagnosed in infancy, who succumbed to LAL-D with accelerated disease progression following splenectomy and liver transplantation...
March 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29628368/sebelipase-alfa-improves-atherogenic-biomarkers-in-adults-and-children-with-lysosomal-acid-lipase-deficiency
#2
Don P Wilson, Mark Friedman, Sachin Marulkar, Tyler Hamby, Eric Bruckert
BACKGROUND: Measures of atherogenic cholesterol, with and without concomitant use of lipid-lowering medications (LLMs), are reported with up to 52 weeks of sebelipase alfa treatment in children and adults with lysosomal acid lipase deficiency (LAL-D) participating in the phase 3 Acid Lipase Replacement Investigating Safety and Efficacy study (NCT01757184). OBJECTIVE: To examine the effects of sebelipase alfa on levels of atherogenic biomarkers in the Acid Lipase Replacement Investigating Safety and Efficacy study...
March 9, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29535442/benefit-of-treatment-with-sebelipase-alfa-in-a-63-year-old-patient-with-advanced-liver-and-atherosclerotic-disease-due-to-lysosomal-acid-lipase-deficiency-lal-d
#3
Elmar Aigner, Alexandra Feldman, Daniel Neureiter, Christian Datz, Vlad Ratziu, Bernhard Paulweber
No abstract text is available yet for this article.
March 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29365870/late-onset-lysosomal-acid-lipase-deficiency-lal-d-successful-outcome-of-five-pregnancies-from-four-homozygous-women-in-greece
#4
Euridiki Drogari, George Pappas, Eleftherios Iliadis, Nina Manolaki
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29365862/characterisation-of-plasma-lipoprotein-particles-in-spanish-patients-with-lysosomal-acid-lipase-deficiency-lal-d
#5
Enrique Rodríguez-García, Miriam Gil-Serret, María Concepción García-Jiménez, María Luisa González-Diéguez, Pablo Del Valle Loarte, Miguel Angel Barba-Romero, David Gil-Ortega, Rosa Bernal-López, Nuria Amigó, Raquel Yahyaoui
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29365427/molecular-analysis-of-15-homozygous-lal-d-patients-from-greece-using-dbs-screening
#6
Elena Kamenet, Vasiliki Mollaki, John Hamilton, Ekaterina Zakharova, Euridiki Drogari
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#7
REVIEW
Ornella Guardamagna, Federica Guaraldi
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of the age of onset, severity and the type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29287906/mexican-consensus-on-lysosomal-acid-lipase-deficiency-diagnosis
#8
R Vázquez-Frias, J E García-Ortiz, P F Valencia-Mayoral, G E Castro-Narro, P G Medina-Bravo, Y Santillán-Hernández, J Flores-Calderón, R Mehta, C A Arellano-Valdés, L Carbajal-Rodríguez, J I Navarrete-Martínez, M L Urbán-Reyes, M T Valadez-Reyes, F Zárate-Mondragón, A Consuelo-Sánchez
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can be given. The aim of the present review was to offer a guide for physicians in understanding the fundamental diagnostic aspects of LAL-D, to successfully aid in its identification...
January 2018: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#9
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28881270/molecular-and-clinical-characterization-of-a-series-of-patients-with-childhood-onset-lysosomal-acid-lipase-deficiency-retrospective-investigations-follow-up-and-detection-of-two-novel-lipa-pathogenic-variants
#10
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Giuseppe Indolfi, Francesco Papadia, Maja Di Rocco, Lorenzo D'Antiga, Patricia Crock, Komal Vora, Scott Nightingale, Helen Michelakakis, Anastasia Garoufi, Lilia Lykopoulou, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine and cardiovascular system. The aim of this study was the clinical and molecular characterization of 14 (13 unrelated) previously unreported patients with childhood-onset LAL-D...
October 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28612634/lysosomal-acid-lipase-deficiency-a-form-of-non-obese-fatty-liver-disease-nofld
#11
Hassan H A-Kader
With the growing obesity epidemic, nonalcoholic fatty liver disease (NAFLD) is rapidly becoming one of the leading causes of liver disease worldwide. Although obesity is a main risk factor for the development of NAFLD, it can also develop in lean subjects and can be encountered in different clinical setting and in association with an array of genetic, metabolic, nutritional, infectious and drug-induced disorders. Areas covered: This article discusses causes of fatty liver in non-obese subjects focusing on Lysosomal acid lipase deficiency (LAL-D), a commonly overlooked disorder reviewing its prevalence, genetics, pathogenesis, clinical features, diagnosis and treatment...
October 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28532785/best-practice-in-the-measurement-and-interpretation-of-lysosomal-acid-lipase-in-dried-blood-spots-using-the-inhibitor-lalistat-2
#12
Zoltan Lukacs, Marianne Barr, John Hamilton
Lysosomal acid lipase deficiency (LAL-D) is an inherited, autosomal recessive lysosomal storage disorder characterized by progressive damage in multiple organ systems. Diagnosis is especially important in infants, in whom the course of disease is rapidly lethal without treatment. The recent regulatory approval of recombinant human lysosomal acid lipase (LAL), sebelipase alfa, merits rapid diagnosis in clinical routine, particularly in infants. A method for measuring LAL activity in dried blood spot (DBS) samples using the highly specific LAL inhibitor Lalistat 2 is available...
May 19, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28504497/liver-disease-and-dyslipidemia-as-a-manifestation-of-lysosomal-acid-lipase-deficiency-lal-d-clinical-and-diagnostic-aspects-and-a-new-treatment-an-update
#13
Luisa Bay, Cristina Canero Velasco, Mirta Ciocca, Andrea Cotti, Miriam Cuarterolo, Alejandro Fainboim, Eduardo Fassio, Marcela Galoppo, Federico Pinero, Paula Rozenfeld
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502515/lysosomal-acid-lipase-deficiency-in-all-siblings-of-the-same-parents
#14
James J Maciejko, Premchand Anne, Saleem Raza, Hernando J Lyons
We present 4 normal-weight sibling children with lysosomal acid lipase deficiency (LAL-D). LAL-D was considered in the differential diagnosis based on the absence of secondary causes and primary inherited traits for their marked hyperlipidemia, together with unexplained hepatic transaminase elevation. Residual lysosomal acid lipase activity confirmed the diagnosis. DNA sequencing of LIPA indicated that the siblings were compound heterozygotes (c.894G>A and c.428+1G>A). This case describes the unusual occurrence of all offspring from the same nonconsanguineous mother and father inheriting compound heterozygosity of a recessive trait and the identification of an apparently unique LIPA mutation (c...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28320214/progression-of-liver-disease-in-children-and-adults-with-lysosomal-acid-lipase-deficiency
#15
Barbara K Burton, Nancy Silliman, Sachin Marulkar
BACKGROUND AND OBJECTIVE: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first clinical manifestation to first documentation of hepatic fibrosis, cirrhosis, or liver transplantation from an observational study of pediatric and adult patients with LAL-D (clinical trial registration: NCT01528917). METHODS: Data were analyzed from 31 patients with available biopsy data and 1 patient without biopsy data who had undergone liver transplantation...
July 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28255033/mri-based-texture-analysis-to-differentiate-sinonasal-squamous-cell-carcinoma-from-inverted-papilloma
#16
S Ramkumar, S Ranjbar, S Ning, D Lal, C M Zwart, C P Wood, S M Weindling, T Wu, J R Mitchell, J Li, J M Hoxworth
BACKGROUND AND PURPOSE: Because sinonasal inverted papilloma can harbor squamous cell carcinoma, differentiating these tumors is relevant. The objectives of this study were to determine whether MR imaging-based texture analysis can accurately classify cases of noncoexistent squamous cell carcinoma and inverted papilloma and to compare this classification performance with neuroradiologists' review. MATERIALS AND METHODS: Adult patients who had inverted papilloma or squamous cell carcinoma resected were eligible (coexistent inverted papilloma and squamous cell carcinoma were excluded)...
May 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#17
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
June 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27941191/diagnostic-and-therapeutic-management-of-children-with-lysosomal-acid-lipase-deficiency-lal-d-review-of-the-literature-and-own-experience
#18
REVIEW
Aldona Wierzbicka-Rucińska, Wojciech Jańczyk, Agnieszka Ługowska, Dariusz Lebensztejn, Piotr Socha
Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#19
REVIEW
James E Frampton
Sebelipase alfa (Kanuma®, Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease. In an ongoing study in nine infants presenting with early-onset LAL-D (Wolman disease), open-label treatment with sebelipase alfa significantly improved 1-year survival compared with historical controls...
December 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#20
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
January 2017: Molecular Genetics and Metabolism
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