Bastos_2024_Int.J.Mol.Sci_25_8648

Reference

Title : Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency - Bastos_2024_Int.J.Mol.Sci_25_8648
Author(s) : Bastos KLM , Stephan BO , Linnenkamp BDW , Costa LA , Lima FR , Carvalho LML , Honjo RS , Tannuri U , Tannuri ACA , Kim CA
Ref : Int J Mol Sci , 25 : , 2024
Abstract :

Lysosomal acid lipase deficiency (LALD) varies from a severe infantile-onset form (Wolman disease) to a late-onset form known as cholesteryl ester storage disease (CESD), both of which are autosomal recessive disorders caused by biallelic LIPA pathogenic variants. We evaluated seventy-three patients enlisted for liver transplant (LT) at Instituto da Criana (HCFMUSP-Brazil) who were subjected to LAL activity measurement and LIPA Sanger sequencing analysis, resulting in a positive LALD diagnosis for only one of these individuals. This LALD patient presented recurrent diarrhea, failure to thrive, hepatomegaly, and dyslipidemia at the age of 4 months and liver failure by the age of 13 years. The LALD diagnosis confirmation was conducted at 24 years old due to low levels of LAL enzyme activity. The causal homozygous variant LIPA(NM_000235.4):c.266T>C(p.Leu89Pro) was identified, but the patient had already undergone his first LT at 18 years with several rejection episodes. Despite beginning treatment with sebelipase alfa at 26 years old (total of five infusions), this patient died at 28 years from complications after his second liver transplant. LALD is an important differential diagnosis in cases presenting with hepatomegaly, elevated liver enzymes, and dyslipidemia. Detecting low/absent LAL activity and identifying the LIPA causal variant are essential for diagnosis and specific treatment, as well as for appropriate genetic counseling. Early diagnosis, along with sebelipase alfa therapy, may improve the prognosis of affected patients.

PubMedSearch : Bastos_2024_Int.J.Mol.Sci_25_8648
PubMedID: 39201333
Gene_locus related to this paper: human-LIPA

Citations formats

Bastos KLM, Stephan BO, Linnenkamp BDW, Costa LA, Lima FR, Carvalho LML, Honjo RS, Tannuri U, Tannuri ACA, Kim CA (2024)
Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency
Int J Mol Sci 25 :

Bastos KLM, Stephan BO, Linnenkamp BDW, Costa LA, Lima FR, Carvalho LML, Honjo RS, Tannuri U, Tannuri ACA, Kim CA (2024)
Int J Mol Sci 25 :