Hepatic Lipase Deficiency

Synonyms

Hepatic triglyceride lipase deficiency; HTGL deficiency

Definition and Characteristics

Complete hepatic lipase (HL) deficiency is a rare genetic disorder, inherited as an autosomal recessive or codominant trait. The absence of HL leads to pathologic levels of circulating lipoproteins and an increased risk of premature cardiovascular disease (CVD).

Prevalence

HL deficiency is one of the rarest disorders in lipoprotein metabolism, with only seven families documented to date worldwide (17 patients) [1-4].

Genes

In humans, the gene coding for HL (LIPC) is localized on chromosome 15 (q21-q-23) and spans more than 60 kb with nine exons totalizing 1.6 kb [5].

Molecular and Systemic Pathophysiology

HL is a 476 amino acid glycoprotein lipolytic enzyme that is primarily synthesized and secreted from hepatocytes, and anchored to the liver sinusoidal surface by heparin sulfate proteoglycans. HL plays a major role in the regulation of intravascular