Lecithin cholesterol acyltransferase (LCAT) deficiency is a rare genetic lipoprotein metabolism disorder. To date, a mere 30 families have been reported in literature and the prevalence of the disease is less than 1/1,000,000.
LCAT deficiency is characterized by a mutation in the gene located on chromosome 16 (16q22.1), which encodes the LCAT enzyme whose role is to catalyze the formation of cholesterol esters in lipoproteins. This mutation causes either a complete or partial deficiency of enzyme activity, which leads to an accumulation of fat deposits in body tissues such as the cornea, red blood cells and kidneys.
The complete form of LCAT deficiency is called familial LCAT deficiency (FLD), whereas the partial form is called fish-eye disease (FED). In general, there are two types of LCAT activity: alpha and beta. In the case of FLD, both alpha and beta activities are deficient, whereas only alpha activity is deficient in patients with FED.
FLD and FED are also different in terms of symptoms. They are both characterized by a reduction in HDL levels and corneal opacities that can develop during childhood, but patients with FLD also display an increase in triglyceride levels, anemia and renal failure.
The association was founded in November 2014 by Dr. Jean-Claude Tardif, Director of the Montreal Heart Institute Research Centre and a full professor of medicine at Université de Montréal.
His goal is to:
To reach the International Familial LCAT Deficiency Association : firstname.lastname@example.org