Cholesteryl ester storage disease—a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report

Cholesteryl ester storage disease (CESD) is a rare genetic disorder caused by homozygous or compound heterozygous pathogenic variants in the lipase A (LIPA) gene encoding lysosomal acid lipase (LAL). LAL deficiency is characterized by progressive accumulation of cholesteryl esters in hepatocytes and macrophages, ultimately leading to organ damage and potentially hepatic failure.

Here we describe a girl with biochemistry similar to familial hypercholesterolaemia (FH) having a total cholesterol of 9.3 mmol/L, low-density lipoprotein cholesterol of 7.1 mmol/L, triglycerides of 2.7 mmol/L, and alanine transaminase of 354 U/L. Whole genome sequencing found her to be compound heterozygous for NM_000235.4:c.894G>A p.(Gln298=) and NM_000235.4:c.419G>A p.(Trp140*) in the LIPA gene, consistent with the diagnosis compound heterozygous CESD. The patient had no clinical signs of cholesterol deposits and no symptoms suggestive of organ damage.

This case report highlights the difficulties in diagnosing a rare subclinical disease with similarities to FH followed by discussion of current treatment options.