Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Journal of Clinical Lipidology
Joana Rita ChoraMafalda Bourbon

Abstract

Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258). This study led to the identification of LALD in 4 children referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis; however, a diagnosis of LALD was not considered. No adults at the time of referral have been identified with LALD. LALD is a life-threatening disorder, and early identification is crucial for the implementation of specific treatment to avoid premature mortality. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the ...Continue Reading

Citations

Jun 30, 2018·Journal of Pediatric Gastroenterology and Nutrition·Patryk LipińskiAnna Tylki-Szymańska
Jan 22, 2019·Current Opinion in Lipidology·Michael A IacoccaRobert A Hegele
Mar 8, 2019·Current Opinion in Lipidology·Ana C AlvesMafalda Bourbon
Sep 15, 2018·Frontiers in Cardiovascular Medicine·Leo UngarAilin Barseghian
Sep 11, 2019·European Heart Journal·François MachUNKNOWN ESC Scientific Document Group
May 21, 2020·World Journal of Clinical Cases·Elias Badal RashuLise L Gluud
May 21, 2018·Current Atherosclerosis Reports·Amanda J HooperGerald F Watts
Dec 5, 2019·Biomolecules·Svetlana MikhailovaElena Shakhtshneider
Jul 6, 2018·Nature Reviews. Cardiology·Amanda J Berberich, Robert A Hegele
Oct 9, 2019·Atherosclerosis·UNKNOWN Authors/Task Force MembersUNKNOWN ESC National Cardiac Societies
Dec 29, 2019·European Journal of Medical Genetics·Maria Donata Di TarantoGiuliana Fortunato
Feb 2, 2021·BMJ Nutrition, Prevention & Health·Lucia AronicaDominic P D'agostino
Jan 19, 2021·ACG Case Reports Journal·Michelle Saad, Sabeen Syed

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