Lysosomal acid lipase deficiency in differential diagnosis of familial hypercholesterolemia

Authors: Zuzana Urbanová 1;  Věra Malinová 2
Authors‘ workplace: Klinika dětského a dorostového lékařství, 1. LF UK a VFN v Praze 1;  Centrum preventivní kardiologie III. interní kliniky 1. LF UK a VFN v Praze 2
Published in: AtheroRev 2019; 4(1): 30-34
Category: Reviews


Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPAgene. Occurrence is worldwide estimated to be 1 : 130000 to 1 : 300000 live births. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age (Wolman disease). Children and adults typically present with some combination of dyslipidemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy – cholesterylester storage disease (CESD). Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. The lipid profile is very similar as we can see in familial hypercholesterolemia, so it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, on how to recognize individuals with this disease and, current management options are reviewed in light of the development of enzyme replacement therapy with sebelipase alfa, a recombinant human lysosomal acid lipase enzyme.


combination therapy – hepatomegaly – lysosomal acid lipase deficiency – Wolman disease

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Angiology Diabetology Internal medicine Cardiology General practitioner for adults
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