on August 25, 2005
Published online before print August 25, 2005, doi: 10.1161/01.ATV.0000183888.48105.d1
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Submitted on June 10, 2005
Accepted on July 26, 2005
The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias
Mireia Junyent ;
From the Unitat de Lípids, Servei d’Endocrinologia i Nutrició (M.J., D.Z., M.V., E.R.) and Secció d’Ecografia, Institut de Diagnòstic per l’Imatge (R.G., I.N.), Institut d’Investigacions Biomèdiques August Pi i Sunyer, Hospital Clínic, Barcelona; and Unidad de Lípidos, Hospital Universitario Miguel Servet (F.C.) and Departamento de Bioquímica, Biología Celular y Molecular, Universidad de Zaragoza (M.P.), Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain.
* To whom correspondence should be addressed. E-mail: eros{at}clinic.ub.es.
Objective--Achilles tendon (AT) xanthomas, specific for familial hypercholesterolemia (FH), may be clinically undetectable. We assessed the usefulness of AT sonography in the diagnosis of FH.
Methods and Results--Sonographic AT characteristics were evaluated in 127 subjects with FH (81 genetically ascertained), 84 familial combined hyperlipidemia, 79 polygenic hypercholesterolemia, and 88 normolipidemic controls. Abnormal echostructure (sonographic xanthoma) was noted only in FH. AT thickness was higher (P<0.001) in FH men and women compared with all of the other groups and, in FH mutation carriers but not in others, correlated positively with low-density lipoprotein cholesterol (r=0.345; P<0.001) and negatively with high-density lipoprotein cholesterol (r=-0.265, P=0.015). Thickness thresholds for the diagnosis of FH with specificity >80%, as were derived from receiver operating curves, were 5.3 and 5.7 mm in men < and >45 years, and 4.8 and 4.9 mm in women < and >50 years, respectively. In FH mutation carriers, sonographic findings increased the clinical diagnosis of xanthomas from 35 (43%) to 55 (68%). Using thresholds in validation sets of 70 genetically identified FH and 54 dyslipidemic non-FH correctly classified 80% and 88%, respectively.
Conclusion--Sonographic AT characteristics are normal in non-FH dyslipidemias. Identification of suspected FH by ultrasound using sex- and age-specific AT thickness thresholds is recommended.
Key words: Achilles tendon • xanthomas • familial hypercholesterolemia • genetic dyslipidemias • ultrasonography
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