Patients Waiting for a Liver Transplant. Clinical Trial
Official title:
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked
to decrease enzymatic activity of LAL, responsible for intracellular accumulation of
cholesterol esters and triglycerides.
The accumulation of lipid is in hepatocytes, Kupffer cells and macrophages leading to a
fatty liver, hepatic fibrosis that can evolve up to cirrhosis.
LAL deficiency is responsible for significant morbidity and early mortality in children,
adolescents and adults in connection with a multi visceral disease reaching the liver,
gastrointestinal tract and the vascular endothelium. The disease is caused by homozygous or
heterozygous mutations in the gene (LIPA chromosome 10q23.2-23.3) which is responsible for
the synthesis of the LAL.
The disease can be diagnosed by enzymatic analysis using few drops of blood absorbed onto
blotting paper .
Patients with this deficiency LAL, have no or reduced activity of this enzyme. Because of
its rarity, the deficit in LAL is under diagnosed or is diagnosed in patients with liver
biological disturbances and / or lipid profile disturbances, steatohepatitis-hepatitis
(NASH), the steatosis (NAFLD), the cryptogenic cirrhosis or Wilson disease.
Inclusion period of 12 to 18 months (100 patients).
n/a
Observational Model: Cohort, Time Perspective: Prospective