Familial LCAT Deficiency Report of Two Patients from a Canadian Family of Italian and Swedish Descent

Abstract

A 16-year-old male (S.F.) and his 21-year-old sister (D.H.)from a large family of Italian and Swedish descent had virtually identical lipoprotein pattern and complete absence of LCAT activity. Both had typical corneal opacities and mild anemia with target cells. S.F., but not D.H., presented with proteinuria, which has increased over three years of follow-up. His kidney biopsy revealed lipid deposits in the glomerular basement membrane. Ten relatives in 4 generations had normal LCAT activity and/or lipoprotein pattern. The patients and their relatives had haptoglobin type 2. Factors that might influence the different clinical presentation in our patients (previous renal disease, diet, abnormal lipoproteins), prognosis, and treatment (diet, enzyme replacement, cholestyramine) are discussed.

Key Words:

• LCAT deficiency
• lecithin: cholesterol acyltransferase
• inborn error of metabolism
• lipoproteins