A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
The proband is a 50 year-old woman born from a consanguineous marriage. She has been
suffering from angina pectoris since the age of 38 and underwent coronary bypass surgery
for three-vessel disease at 48. The presence of low plasma levels of total cholesterol and
high density lipoprotein (HDL) cholesterol (2.4 and 0.1 mmol/l) and apo AI (< 15 mg/dl),
associated with corneal lesions and a mild splenomegaly suggested the diagnosis of
Tangier disease. However, none of the other features of Tangier disease, including …
suffering from angina pectoris since the age of 38 and underwent coronary bypass surgery
for three-vessel disease at 48. The presence of low plasma levels of total cholesterol and
high density lipoprotein (HDL) cholesterol (2.4 and 0.1 mmol/l) and apo AI (< 15 mg/dl),
associated with corneal lesions and a mild splenomegaly suggested the diagnosis of
Tangier disease. However, none of the other features of Tangier disease, including …