Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
Summary Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatos...
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Published in | Journal of hepatology Vol. 58; no. 6; pp. 1230 - 1243 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Netherlands
Elsevier B.V
01.06.2013
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Subjects | |
Online Access | Get full text |
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Abstract | Summary Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatosis leading to liver failure, accelerated atherosclerosis and premature demise. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed. Here, the findings in 135 CESD patients described in the literature are reviewed. Diagnoses were based on liver biopsies, LAL deficiency and/or LAL gene ( LIPA ) mutations. Hepatomegaly was present in 99.3% of patients; 74% also had splenomegaly. When reported, most patients had elevated serum total cholesterol, LDL-cholesterol, triglycerides, and transaminases (AST, ALT, or both), while HDL-cholesterol was decreased. All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure. Pathognomonic birefringent CE crystals or their remnant clefts were observed in hepatic cells. Extrahepatic manifestations included portal hypertension, esophageal varices, and accelerated atherosclerosis. Liver failure in 17 reported patients resulted in liver transplantation and/or death. Genotyping identified 31 LIPA mutations in 55 patients; 61% of mutations were the common exon 8 splice-junction mutation (E8SJM−1G>A ), for which 18 patients were homozygous. Genotype/phenotype correlations were limited; however, E8SJM−1G>A homozygotes typically had early-onset, slowly progressive disease. Supportive treatment included cholestyramine, statins, and, ultimately, liver transplantation. Recombinant LAL replacement was shown to be effective in animal models, and recently, a phase I/II clinical trial demonstrated its safety and indicated its potential metabolic efficacy. |
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AbstractList | Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatosis leading to liver failure, accelerated atherosclerosis and premature demise. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed. Here, the findings in 135 CESD patients described in the literature are reviewed. Diagnoses were based on liver biopsies, LAL deficiency and/or LAL gene (LIPA) mutations. Hepatomegaly was present in 99.3% of patients; 74% also had splenomegaly. When reported, most patients had elevated serum total cholesterol, LDL-cholesterol, triglycerides, and transaminases (AST, ALT, or both), while HDL-cholesterol was decreased. All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure. Pathognomonic birefringent CE crystals or their remnant clefts were observed in hepatic cells. Extrahepatic manifestations included portal hypertension, esophageal varices, and accelerated atherosclerosis. Liver failure in 17 reported patients resulted in liver transplantation and/or death. Genotyping identified 31 LIPA mutations in 55 patients; 61% of mutations were the common exon 8 splice-junction mutation (E8SJM−1G>A), for which 18 patients were homozygous. Genotype/phenotype correlations were limited; however, E8SJM−1G>A homozygotes typically had early-onset, slowly progressive disease. Supportive treatment included cholestyramine, statins, and, ultimately, liver transplantation. Recombinant LAL replacement was shown to be effective in animal models, and recently, a phase I/II clinical trial demonstrated its safety and indicated its potential metabolic efficacy. Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatosis leading to liver failure, accelerated atherosclerosis and premature demise. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed. Here, the findings in 135 CESD patients described in the literature are reviewed. Diagnoses were based on liver biopsies, LAL deficiency and/or LAL gene (LIPA) mutations. Hepatomegaly was present in 99.3% of patients; 74% also had splenomegaly. When reported, most patients had elevated serum total cholesterol, LDL-cholesterol, triglycerides, and transaminases (AST, ALT, or both), while HDL-cholesterol was decreased. All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure. Pathognomonic birefringent CE crystals or their remnant clefts were observed in hepatic cells. Extrahepatic manifestations included portal hypertension, esophageal varices, and accelerated atherosclerosis. Liver failure in 17 reported patients resulted in liver transplantation and/or death. Genotyping identified 31 LIPA mutations in 55 patients; 61% of mutations were the common exon 8 splice-junction mutation (E8SJM(-1G>A)), for which 18 patients were homozygous. Genotype/phenotype correlations were limited; however, E8SJM(-1G>A) homozygotes typically had early-onset, slowly progressive disease. Supportive treatment included cholestyramine, statins, and, ultimately, liver transplantation. Recombinant LAL replacement was shown to be effective in animal models, and recently, a phase I/II clinical trial demonstrated its safety and indicated its potential metabolic efficacy. Summary Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatosis leading to liver failure, accelerated atherosclerosis and premature demise. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed. Here, the findings in 135 CESD patients described in the literature are reviewed. Diagnoses were based on liver biopsies, LAL deficiency and/or LAL gene ( LIPA ) mutations. Hepatomegaly was present in 99.3% of patients; 74% also had splenomegaly. When reported, most patients had elevated serum total cholesterol, LDL-cholesterol, triglycerides, and transaminases (AST, ALT, or both), while HDL-cholesterol was decreased. All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure. Pathognomonic birefringent CE crystals or their remnant clefts were observed in hepatic cells. Extrahepatic manifestations included portal hypertension, esophageal varices, and accelerated atherosclerosis. Liver failure in 17 reported patients resulted in liver transplantation and/or death. Genotyping identified 31 LIPA mutations in 55 patients; 61% of mutations were the common exon 8 splice-junction mutation (E8SJM−1G>A ), for which 18 patients were homozygous. Genotype/phenotype correlations were limited; however, E8SJM−1G>A homozygotes typically had early-onset, slowly progressive disease. Supportive treatment included cholestyramine, statins, and, ultimately, liver transplantation. Recombinant LAL replacement was shown to be effective in animal models, and recently, a phase I/II clinical trial demonstrated its safety and indicated its potential metabolic efficacy. |
Author | Desnick, Robert J Bialer, Martin G Hülkova, Helena Bernstein, Donna L |
Author_xml | – sequence: 1 fullname: Bernstein, Donna L – sequence: 2 fullname: Hülkova, Helena – sequence: 3 fullname: Bialer, Martin G – sequence: 4 fullname: Desnick, Robert J |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/23485521$$D View this record in MEDLINE/PubMed |
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Keywords | Wolman disease exon 8 splice-junction mutation NAFLD non-alcoholic fatty liver disease enzyme replacement therapy LIMP E8SJM ERT Non-alcoholic fatty liver disease (NAFLD) alanine aminotransferase ALT CHO Elevated serum transaminases WD LIPA Hepatomegaly Non-alcoholic steatohepatitis ApoB ABCA1 lysosomal acid lipase AST CE lysosomal integral membrane Lysosomal acid lipase deficiency HMG-CoA Lysosomal storage disease CESD NASH Cholesteryl ester storage disease 3-hydroxy-3-methylglutaryl coenzyme A ATP binding cassette transporter 1 recombinant human LAL aspartate aminotransferase Microvesicular steatosis Micronodular cirrhosis lysosomal associated membrane protein lysosomal acid lipase gene Chinese hamster ovary LAL rhLAL LAMP apolipoprotein B cholesteryl ester Type 2b dyslipidemia |
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Two new cases diagnosed in adults publication-title: Gastroenterol Clin Biol contributor: fullname: Ekert – volume: 60 start-page: 1107 year: 2012 ident: 10.1016/j.jhep.2013.02.014_b0020 article-title: Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens publication-title: Histopathology doi: 10.1111/j.1365-2559.2011.04164.x contributor: fullname: Hulkova – volume: 54 start-page: 168 year: 2009 ident: 10.1016/j.jhep.2013.02.014_b0385 article-title: Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult publication-title: Dig Dis Sci doi: 10.1007/s10620-008-0310-2 contributor: fullname: Chatrath – volume: 5 start-page: 1611 year: 1996 ident: 10.1016/j.jhep.2013.02.014_b0620 article-title: Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease publication-title: Human Mol Genet doi: 10.1093/hmg/5.10.1611 contributor: fullname: Pagani – volume: 45 start-page: 664 year: 1970 ident: 10.1016/j.jhep.2013.02.014_b0005 article-title: Deficiency of acid esterase activity in Wolman’s disease publication-title: Arch Dis Child doi: 10.1136/adc.45.243.664 contributor: fullname: Young – volume: 77 start-page: 1061 year: 2005 ident: 10.1016/j.jhep.2013.02.014_b0215 article-title: The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy publication-title: Am J Human Genet doi: 10.1086/498652 contributor: fullname: Du – volume: 33 start-page: 29 year: 1985 ident: 10.1016/j.jhep.2013.02.014_b0350 article-title: Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease publication-title: Biochem Med doi: 10.1016/0006-2944(85)90123-1 contributor: fullname: Kelly – volume: 7 start-page: 446 year: 1988 ident: 10.1016/j.jhep.2013.02.014_b0305 article-title: Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases publication-title: J Pediatr Gastroenterol Nutr doi: 10.1097/00005176-198805000-00023 contributor: fullname: D’Agostino – volume: 118 start-page: 131 year: 1991 ident: 10.1016/j.jhep.2013.02.014_b0605 article-title: Lovastatin therapy for cholesterol ester storage disease in two sisters publication-title: J Pediatr doi: 10.1016/S0022-3476(05)81866-9 contributor: fullname: Tarantino – volume: 15 start-page: 245 year: 1993 ident: 10.1016/j.jhep.2013.02.014_b0155 article-title: In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3 publication-title: Genomics doi: 10.1006/geno.1993.1052 contributor: fullname: Anderson – volume: 15 start-page: 773 year: 1995 ident: 10.1016/j.jhep.2013.02.014_b0060 article-title: A novel variant of lysosomal acid lipase (Leu336–>Pro) associated with acid lipase deficiency and cholesterol ester storage disease publication-title: Arterioscler Thromb Vasc Biol doi: 10.1161/01.ATV.15.6.773 contributor: fullname: Seedorf – volume: 18 start-page: 620 year: 1995 ident: 10.1016/j.jhep.2013.02.014_b0280 article-title: Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease publication-title: J Inherit Metab Dis doi: 10.1007/BF02436008 contributor: fullname: Maslen – volume: 6 start-page: 7 year: 1993 ident: 10.1016/j.jhep.2013.02.014_b0725 article-title: 7years’ experience with hepatic transplantation in children publication-title: Cir Pediatr contributor: fullname: Martinez Ibanez – volume: 97 start-page: 143 year: 2009 ident: 10.1016/j.jhep.2013.02.014_b0065 article-title: Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2009.02.007 contributor: fullname: Pisciotta – volume: 94 start-page: 621 year: 1979 ident: 10.1016/j.jhep.2013.02.014_b0435 article-title: Pulmonary vascular obstruction associated with cholesteryl ester storage disease publication-title: J Pediatr doi: 10.1016/S0022-3476(79)80033-5 contributor: fullname: Michels – volume: 3 start-page: 152 year: 1989 ident: 10.1016/j.jhep.2013.02.014_b0205 article-title: Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease publication-title: FASEB J doi: 10.1096/fasebj.3.2.2644147 contributor: fullname: Poznansky – volume: 34 start-page: 98 year: 1987 ident: 10.1016/j.jhep.2013.02.014_b0485 article-title: Two cases of cholesteryl ester storage disease (CESD) acid lipase deficiency publication-title: Hepatogastroenterology contributor: fullname: Tylki-Szymanska – volume: 11 start-page: 258 year: 1981 ident: 10.1016/j.jhep.2013.02.014_b0365 article-title: Cholesteryl ester storage disease in the liver (author’s transl) publication-title: Leber Magen Darm contributor: fullname: Kuntz |
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Snippet | Summary Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE)... Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE)... |
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SubjectTerms | Cholesterol - blood Cholesterol Ester Storage Disease - complications Cholesterol Ester Storage Disease - diagnosis Cholesterol Ester Storage Disease - genetics Cholesterol Ester Storage Disease - pathology Cholesterol Ester Storage Disease - therapy Cholesteryl ester storage disease Elevated serum transaminases Enzyme Replacement Therapy Gastroenterology and Hepatology Hepatomegaly Humans Liver - pathology Liver Transplantation Lysosomal acid lipase deficiency Lysosomal storage disease Micronodular cirrhosis Microvesicular steatosis Non-alcoholic fatty liver disease (NAFLD) Non-alcoholic steatohepatitis Triglycerides - blood Type 2b dyslipidemia Wolman Disease Wolman Disease - complications |
Title | Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease |
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