Pediatric patients with lysosomal acid lipase deficiency.
Rev Esp Patol
; 56(2): 113-118, 2023.
Article
en En
| MEDLINE
| ID: mdl-37061237
ABSTRACT
Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in HDL cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.
Palabras clave
Biopsia hepática; Cholesteryl ester; Cholesteryl ester storage disease; Deficiencia de lipasa ácida lisosomal; Enfermedad por almacenamiento de ésteres de colesterol; Esteatosis microvesicular; Lipasa ácida lisosomal; Liver biopsy; Lysosomal acid lipase; Lysosomal acid lipase deficiency; Microvesicular steatosis; Ésteres de colesterol
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Wolman
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Rev Esp Patol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Colombia