[Clinical and biochemical characteristics of a new case of Tangier disease in Spain].
Tangier disease (TD) is a rare autosomal recessively inherited disorder characterized by the absence or severe deficiency of high density lipoproteins (HDL) in plasma. The affected subjects have no HDL subfraction alpha-Lp A-I, which is the most important subfraction in normal HDL, and can not transform prebeta-Lp A-I subfraction in alpha-Lp A-I. In this article we describe the second homozygous patient for TD in Spain, who presented the typical clinical and biological features (hypocholesterolemia with the absence of plasmatic HDL cholesterol, hepatosplenomegaly and orange yellow tonsils) and the alterations in HDL subfractions.
Real
J T
JT
Servicio de Endocrinología y Nutríción, Hospital Clínico, Universidad de Valencia.
Ascaso
J F
JF
Sanchís
J
J
Aranda
A
A
von Eckardstein
A
A
Carmena
R
R
D008076:Cholesterol, HDL / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013030:Spain; D013631:Tangier Disease / Q000097:blood / Q000175:diagnosis / Q000235:genetics
D008076:Cholesterol, HDL