Vnitr Lek 2020, 66(7):443-446 | DOI: 10.36290/vnl.2020.125

Tangier disease in family with the phenotype of familial hypercholesterolemia

Robin Urbánek¹, Lukáš Tichý², Tomáš Freiberger³

¹ Lipidová a obezitologická ambulance, Zlín

² Interní hematoonkologická klinika, Centrum molekulární biologie a genové terapie, FN Brno

³ Centrum kardiovaskulární a transplantační chirurgie. Genetická laboratoř, FN u sv. Anny Brno

Within the project MedPed (Make Early Diagnosis to Prevent Deaths) we have examined patient with familial hypercholesterolemia in our lipid ambulance. During the following investigation of the patient's family we found out that her sister has on the contrary very low levels of total and LDL-cholesterol. Concentration of HDL-cholesterol was extreamly low (almost immeasurable). Differential diagnosis uttered a suspicion of rare form of familial hypoalfalipoproteinemia so-called Tangier disease. This suspicion was then confirmed by molecular genetic examination. Tangier disease is a rare lipoprotein metabolism disorder characterized biochemically by almost complete absence of plasmatic HDL- cholesterol, extremely low level of apolipoprotein A-I and accumulation of cholesterol esters in macrophages. The first case was recorded on the Tangier island in 1961. In our research we describe the first case of a patient with homozygous form of Tangier disease in the history of the Czech Republic.

Keywords: familial hypercholesterolemia, low ApoA‑I, low HDL‑cholesterol, primary hypoalfalipoproteinemia, project MEDPED, Tangier disease.

Published: November 3, 2020  Show citation