Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

Camarena, C.; Aldámiz‐Echevarría, Luis; Polo, Begoña; Romero, M.A. Barba; García, Inmaculada; Cebolla, Jorge J.; Ros, Emilio

doi:10.1016/j.medcle.2017.04.021

Cited by 12 publications

(20 citation statements)

References 43 publications

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“…LAL-D is a rare lipid storage disease. Its prevalence is approximately 1/40 000–1/350 000 in newborns; it is more frequent in individuals with Iranian–Jewish ancestry, with an incidence of 1: 4200 in this population [ 7 , 8 ]. Our case is the first reported from Colombia with enzymatic and molecular confirmation.…”

Section: Discussionmentioning

confidence: 99%

“…Lipid-lowering therapy with statins is considered ineffective in patients with LAL-D and does not result in improvement of the hepatic involvement [ 4 , 7 , 11 ]. However, in low-income countries such as Colombia, where administrative problems are an obstacle for using ERT, statins are the best option to reduce LDL levels, decrease the cholesterol synthesis, and decrease cardiovascular risk, despite hepatic damage progression, until initiation of ERT [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…Previously, LAL-D was divided into 2 phenotypes: the early-onset form or Wolman’s disease, and the late-onset form known as cholesteryl ester storage disease [ 6 ]. Currently, these names are not used, as it is understood that this pathology is a unique nosological entity and can present different phenotypes of presentation, ranging from the early-onset with rapid progression to the late-onset with chronic progression [ 7 ]. The early-onset form debuts in the first weeks of life, since there is absent LAL activity, generating severe infantile-onset disorder characterized by steatorrhea, emesis, chronic malnutrition, adrenal calcification, hepatosplenomegaly, failure to thrive, and multiorgan failure resulting in death typically before 1 year of age [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

et al. 2018

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Patient: Male, 14Final Diagnosis: Lysosomal acid lipase deficiency (LAL-D)Symptoms: Dyslipidemia • isolated hepatomegalyMedication: —Clinical Procedure: Genetic sequencingSpecialty: Gastroenterology and HepatologyObjective:Rare diseaseBackground:Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LIPA gene that causes an alteration of lipid metabolism, resulting in deposits of cholesterol esters and triglycerides in organs such as the liver, blood vessels, and gastrointestinal tract. Lysosomal acid lipase deficiency is predominantly caused by the mutation c.894G>A, seen in approximately 50–70% of patients. Our objective is to report the first pediatric case of lysosomal acid lipase deficiency in a pediatric patient in Colombia.Case Report:The patient is a 14-year-old boy with isolated hepatomegaly since 6 years of age without a family history of dyslipidemia. In the pediatric control, laboratory exams revealed dyslipidemia, and a hepatic biopsy was performed, revealing severe fibrosis with septation and grade 3 microvesicular steatosis (>75%). He was referred to our center and was suspected to have lysosomal acid lipase deficiency. Enzymatic activity was measured, showing absent activity. Confirmatory diagnosis with genetic sequencing showed a pathological homozygous mutation of c.894G>A.Conclusions:Lysosomal acid lipase deficiency can manifest as early- or late-onset, with variable and severe signs and symptoms. The late-onset form has a broad spectrum of manifestations with mild symptoms, leading to under-diagnosis, which increases the actual disease burden. Early diagnosis is essential to initiate enzyme replacement therapy, since the natural disease course can be changed. More studies should be conducted in Latin America to evaluate the prevalence of the disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

et al. 2018

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“…Tiene una media de edad para la primera presentación de 1 mes y, posteriormente, la muerte ocurre por lo regular alrededor de los 6 meses de vida por una falla multiorgánica y el compromiso de la función hepática secundario a la cirrosis. 9 Las primeras descripciones de la EAEC se atribuyen a Fredrickson, 10 Schiff, 11 Lageron 12 e Infante. 13 En estos, la progresión de la enfermedad es más lenta, hay una actividad residual de la LAL (1-12% de la actividad normal), lo que conduce a una cirrosis y otras complicaciones en la infancia o en etapas más avanzadas de la vida.…”

Section: Introductionunclassified

“…16 En ocasiones, esta entidad puede pasar inadvertida hasta la edad adulta, momento en el cual se puede presentar con un amplio espectro de enfermedad hepática que puede ir desde la hepatomegalia con hígado graso (en más del 90% de los casos), hasta un desarrollo silente de fibrosis que evoluciona a la cirrosis. 9,17 La esplenomegalia es más variable (74% de los pacientes), muy posiblemente secundaria a la hipertensión portal. 9,18 También es posible encontrar manifestaciones de aterosclerosis en diferentes territorios vasculares y la enfermedad cardiovascular prematura.…”

Section: Introductionunclassified

Bajos niveles de actividad de la lipasa ácida lisosomal y su relación con el desarrollo de la cirrosis de origen criptogénica/NASH: un estudio de cohorte

Rendón¹,

Tavera²,

Gutiérrez³

et al. 2021

Acta gastroenterol. latinoam.

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Introduction and objective. The deficiency of the Lysosomal acid lipase (LAL) activity has been related to cirrhosis due to non-alcoholic steatohepatitis (NASH). Many of the cirrhosis classified as cryptogenic are the evolution of liver disease due to fatty liver. The objective of the present study was to evaluate the lysosomal acid lipase (LAL) activity in the patients with liver cirrhosis of any etiology and establish whether low levels correlate with cryptogenic cirrhosis of origin cryptogenic or NASH. Methods. Was an analytical cohort study including 96 patients with cirrhosis of any etiology for which LAL activity was measured. Results. Fifty-five patients (58%) with cryptogenic cirrhosis or NASH were included and 41 with other etiologies. The fifty-three percent of the total population were women. The severity scores of liver disease were significantly higher in the patients with the cryptogenic cirrhosis or NASH: MELD (11.72 ± 7.3 vs 4,34 ± 5.7; p = 0.001) and Child-Pugh (7.26 ± 3.8 vs 7.26 ± 3.8; p = 0.004). LAL activity was significant lower (202.40 ± 98.8 vs 242.55 ± 121.9; p = 0.04) in the cirrhosis cryptogenic or NASH group. In the multivariate analysis, low LAL activity (< 150 nmol/spot/hour), was correlated with the presence of cryptogenic cirrhosis or NASH. Conclusions. The patients with cryptogenic cirrhosis or NASH have lower levels of LAL activity than those with cirrhosis of other etiologies. LAL activity below 150 nmol/spot/hour is predictive of the cryptogenic cirrhosis or NASH.

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Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier

Zhang,

Lin,

Zhang

et al. 2024

Dig Dis Sci

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Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

Cited by 12 publications

References 43 publications

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

Bajos niveles de actividad de la lipasa ácida lisosomal y su relación con el desarrollo de la cirrosis de origen criptogénica/NASH: un estudio de cohorte

Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier

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