2019, Número 3
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Gac Med Mex 2019; 155 (3)
Deficiencia de lipasa ácida lisosomal, una patología infrecuente
Gómez-Duarte C, García V, Botero V, Aristizabal A, Echeverri G, Pachajoa H
Idioma: Español
Referencias bibliográficas: 51
Paginas: 291-297
Archivo PDF: 386.97 Kb.
RESUMEN
El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos.
Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo.
La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas
o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante,
la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es
imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la
morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca
de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.
REFERENCIAS (EN ESTE ARTÍCULO)
Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics. 1996; 33:85-93.
Rader DJ. Lysosomal acid lipase deficiency: a new therapy for a genetic lipid disease. N Engl J Med. 2015;373:1071-1073.
Frampton JE. Sebelipase alfa: a review in lysosomal acid lipase deficiency. Am J Cardiovasc Drugs. 2016;16:461-468.
Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, et al. Lysosomal acid lipase deficiency: an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235:21-30.
Wierzbicka-Rucińska A, Jańczyk W, Ługowska A, Lebensztejn D, Socha P. Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience. Dev Period Med. 2016;20:212-215.
Su K, Donaldson E, Sharma R. Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa. Appl Clin Genet. 2016;9:157-167.
Grabowski G. Therapy for lysosomal acid lipase deficiency: replacing a missing link. Hepatology. 2013;58(3):850-852.
Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, et al. Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab. 2012;105(3):450-456.
Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2015;18:425-428.
Ramírez CM, López AM, Turley SD. Lysosomal acid lipase activity: a tool for the detection and management of fatty liver disease? EBioMedicine. 2015;2:638-639.
Camarena C, Aldamiz-Echevarría LJ, Polo B, Barba-Romero MA, García I, Cebolla JJ, et al. Actualización en deficiencia de lipasa ácida lisosomal: diagnóstico, tratamiento y seguimiento de los pacientes. Med Clin. 2017;148:429.e1-429 e10.
Bay L, Cañero-Velasco C, Ciocca M, Cotti A, Cuarterolo M, Fainboim A, et al. Enfermedad hepática y dislipemia como manifestación de deficiencia de lipasa acida lisosomal (LAL-D). Aspectos clínicos, diagnósticos y nuevo tratamiento. Actualización. Arch Argent Pediatr. 2017;115:287-293.
Reynolds T. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. J Clin Pathol. 2013;66:918-923.
Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatolology. 2013;58:958-965.
Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33:2909-2914.
Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Seedorf U, Schulte H, et al. Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol. 2007;27:1866-1868.
The Human Gene Mutation Database [sitio web]. HGMD gene result. Gales, Reino Unido: Institute of Medical Genetics in Cardiff; 2017.
Tanaka A. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. Nihon Rinsho. 1995;53:3004-3008.
Reference GH [sitio web]. Lysosomal acid lipase deficiency. EE. UU.: Genetics Home Reference; 2017.
Santillán-Hernández Y, Almanza-Miranda E, Xin WW, Goss K, Vera- Loaiza A, Gorráez-De la Mora MT, et al. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. World J Gastroenterol. 2015;21:1001-1008.
Asociación Española Déficit de Lipasa Ácida Lisosomal [sitio web]. Prevalencia. Déficit de lipasa ácida lisosomal. España: Asociación Española Déficit de Lipasa Ácida Lisosomal; 2019.
Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, et al. Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. Genet Test Mol Biomarkers. 2011;15:395-398.
Vespasiani-Gentilucci U, Gallo P, Piemonte F, Riva E, Porcari A, Vorini F, et al. Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology. PloS One. 2016; 11:e0156113.
Mendoza-Durán M, Pastor-Rosado J, Fajardo-Giménez M, Vázquez-Pigueiras I, Canals-Candela F, Abad-Linares J. Enfermedad de depósito de ésteres de colesterol. Actualización del diagnóstico y el tratamiento. Acta Pediatr Esp. 2015;73:e31-40.
Saito S, Ohno K, Suzuki T, Sakuraba H. Structural bases of Wolman disease and cholesteryl ester storage disease. Mol Genet Metab. 2012 Feb;105:244-248.
Xanthomatosis G, Calcified W. Glands Early Finding. Reported Pic; 2015.
Drebber U, Andersen M, Kasper HU, Lohse P, Stolte M, Dienes HP. Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. World J Gastroenterol. 2005;11:2364-2366.
Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013;56:682-685.
Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, et al. Clinical features of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2015;61:619-625.
Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-1243.
Morris GE, Braund PS, Moore JS, Samani NJ, Codd V, Webb TR. Coronary artery disease–associated LIPA coding variant rs1051338 reduces lysosomal acid lipase levels and activity in lysosomes. Arterioscler Thromb Vasc Biol. 2017;37:1050-1057.
Hůlková H, Elleder M. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology. 2012;60:1107-1113.
Ivashkin V, Zharkova M. Cholesteryl ester crystals in lysosomal acid lipase deficiency. N Engl J Med. 2017;376:e14.
Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, et al. Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab. 2009;97:143-148.
Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413:1207-1210.
Sreekantam S, Nicklaus-Wollenteit I, Orr J, Sharif K, Vijay S, McKiernan PJ, et al. Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency. Pediatr Transplant. 2016;20:851-854.
Iverson S, Cairns S, Ward C, Fensom A. Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin. Ann Clin Biochem. 1997;34:433-436.
Riva S, Spada M, Sciveres M, Minervini M, Cintorino D, Maggiore G, et al. Hepatocarcinoma in a child with cholesterol ester storage disease. Dig Liver Dis. 2008;40:784.
Jones S, Bernstein D, Bialer M, Dhawan A, Hendriksz C, Whitley CB, et al. Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency. Mol Genet Metab. 2014; 111:S57-S58.
Block RC, Razani B. Options to consider when treating lysosomal acid lipase deficiency. J Clin Lipidol. 2016;10:1280-1281.
Balwani M, Breen C, Enns GM, Deegan PB, Honzík T, Jones S, et al. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology. 2013;58:950-957.
Boletín mensual de la Agencia Española de Medicamentos y Productos Sanitarios junio de 2015. España: AEMPS; 2015.
European Medicines Agency. Assessment report. Reino Unido: European Medicines Agency/Committee for Medicinal Products for Human Use; 2015.
Rutkowski JV, Burt AD, Leavitt MC, Hu W, Canty D, Quinn AG. Co-localization of macrophage aggregation and fibrosis in a rat model of lysosomal acid lipase (LAL) deficiency and the effects of enzyme replacement with SBC-102. Mol Genet Metab. 2013;108:S80-S81.
Rutkowski J, Burt AD, Leavitt M, Hu W, Canty D, Quinn AG. Recombinant human lysosomal acid lipase decreases hepatic macrophage aggregates and colocalized fibrosis in a rat model of lysosomal acid lipase deficiency. hepatology. Hepatology. 2012;56:858A.
Thelwall PE, Smith FE, Leavitt MC, Canty D, Hu W, Hollingsworth KG, et al. Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance. J Hepatol. 2013;59 543-549.
Shirley M. Sebelipase alfa: first global approval. Drugs. 2015;75:1935-1940.
Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61:1135-1142.
Hoffman EP, Barr ML, Giovanni MA, Murray MF. Lysosomal acid lipase deficiency. En: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al. , editores. GeneReviews [sitio web]. EE. UU. University of Washington; 1993.
Himes RW, Barlow SE, Bove K, Quintanilla NM, Sheridan R, Kohli R. Lysosomal acid lipase deficiency unmasked in two children with nonalcoholic fatty liver disease. Pediatrics. 2016;138 pii.
Botero V, García VH, Gómez-Duarte C, Aristizabal AM, Arrunategui AM, Echeverri GJ, et al. Lysosomal acid lipase deficiency, a rare pathology: the first pediatric patient reported in Colombia. Am J Case Rep. 2018;19:669-672.