Characteristics of the Czech cohort of patients with familial dysbetalipoproteinemia and evaluation of the applicability of diagnostic algorithms in clinical practice
Abstract
Familial dysbetalipoproteinemia (FD) is not only a very atherogenic dyslipidemia (DLP) that leads to premature atherosclerosis (both coronary and peripheral), but may also be a potential risk factor for development of acute pancreatitis (in patient with very high triglyceride levels). In the Czech Republic, up to 10,000 patients with this diagnosis can be expected, unfortunately their detection is very low.
FD must always be considered in patients with heavier mixed DLP (total cholesterol (T-C) > 5 mmol/L, TG > 3 mmol/L), in whom the T-C/TG ratio is approximately 2(1) : 1. Patients suitable for further, especially genetic, testing can be selected using a number of diagnostic algorithms; according to our results, the ratio of nonHDL-cholesterol/apolipoprotein B (nonHDL-C/apoB) > 5 mmol/g seems to be the most suitable.
Definitive diagnosis can be made by apolipoprotein E genotyping, more rarely by lipoprotein ultracentrifugation or polyacrylamide gradient electrophoresis. Treatment is based on consistent regimen measures; the pharmacotherapy of choice is the combination of a statin plus fibrate.
The aim of our work is to characterize the Czech cohort of patients with FD, describing their laboratory findings, the occurrence of comorbidities or treatment regimens, and then to evaluate the usability of literature-described diagnostic algorithms in patients with FD.