Monogenic hyperlipidemias

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Geraldo Krasi
Vilma Bushati
Vincenza Precone
Bernardo Cortese
Francesca Agostini
Silvia Tezzele
Mirko Baglivo
Stefano Cecchin
Barbara Aquilanti
Valeria Velluti
Giuseppina Matera
Lucilla Gagliardi
Giacinto Abele Donato Miggiano
Matteo Bertelli

Keywords

Hyperlipidemia, cholesterol, triglycerides, LDL, HDL

Abstract

Monogenic hyperlipidemias are a group of inherited disorders characterized by elevated plasma concentrations of lipids and lipoproteins. High plasma concentrations of lipids are the most frequent risk factor for cardiovascular disease. Monogenic hyperlipidemias are a minor cause with respect to multifactorial hyperlipidemias. Diagnosis is based on clinical findings and lipid panel measurements. Genetic testing is useful for confirming diagnosis and for differential diagnosis, recurrence risk calculation and prenatal diagnosis in families with a known mutation. Monogenic hyperlipidemias can have either autosomal dominant or recessive inheritance.

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