Lysosomal acid lipase deficiency

Lysosomal acid lipase (DLCL) deficiency) – a rare hereditary disease that affects the liver, spleen, blood vessels and other organs. As a result of a decrease in the activity of the LKL enzyme, the metabolism of cholesterol and triglycerides is disrupted, the accumulation of cholesterol and triglyceride esters in the liver, spleen and other organs is accompanied by dyslipidemia and an increase in the level of total cholesterol and LDL in the blood serum, a decrease in the level of HDL and triglycerides.

The disease can occur in two forms: Wolman's disease (with onset at an early age, leading to infant death) and cholesterol ester accumulation disease (BNEH), developing at an older age.

BNEX-characterized by a slower progression, the main manifestations are dyslipidemia and liver damage (increased liver size, cytolytic and cholestatic syndromes in the biochemical analysis of blood, etc.)

Thus, when a combination of liver disease of unknown nature and dyslipidemia can be suspected diagnosis of DLCL.

The prognosis of the disease largely depends on the timeliness of the diagnosis and the start of therapy.

The gold standard of diagnosis is the analysis of the activity of the LKL enzyme in the patient's blood.

Recently, the MCSC has been able to diagnose this rare disease: in the department of liver diseases, if patients are suspected of DLCL, a blood test for the activity of the enzyme is performed in a specialized laboratory.

GBUZ Moscow Clinical Scientific Center named after Loginov MHD