Publications by authors named "Robin Urbanek"
Article Synopsis
- The MedPed project investigated familial hypercholesterolemia cases and discovered a patient with extremely low levels of total and LDL-cholesterol in her sister, suggesting a rare condition.
- This led to a suspicion of Tangier disease, a genetic disorder that results in nearly absent HDL-cholesterol and low apolipoprotein A-I, confirmed by genetic testing.
- The study highlights the first documented case of homozygous Tangier disease in the Czech Republic, originally identified in 1961 on Tangier Island.
Background And Aims: Despite the high prevalence of familial hypercholesterolemia (FH) and available effective lipid-lowering therapy, most of the individuals with this disorder remain undiagnosed and undertreated. The aim of the PLANET registry was to assess the real-life attainment of low-density lipoprotein cholesterol (LDL-C) therapeutic target level in patients with heterozygous FH, to characterize prescribed lipid-lowering therapy with assessment of its efficiency according to the attainment of the target LDL-C level, and to characterize cardiovascular events observed in this patient population again in relation to LDL-C target level attainment.
Methods: PLANET registry was designed as a non-interventional, retrospective, cross-sectional, multicentre disease registry for adult patients with heterozygous FH in the Czech Republic and Slovakia.