Vnitr Lek 2014, 60(11):963-969

Familial hypercholesterolemia - past and present. My experiences and findings in our group of patients with familial hypercholesterolemia

Richard Češka^*, Michal Vrablík, Tereza Altschmiedová, Martina Prusíková, Zuzana Urbanová, Josef Šobra

Centrum preventivní kardiologie III. interní kliniky 1. LF UK a VFN Praha, přednosta prof. MUDr. Štěpán Svačina, DrSc., MBA

Currently, the familial hypercholesterolemia (FH) rises the interest. The reason is that this genetic disorder is targeted by newly emerged and highly effective hypolipidemic agents, PCSK-9 inhibitors, lomitapid and mipomersen. Present paper discusses 2 patient study groups, before 50 years and nowadays. Although direct statistical analysis is impossible some changes in clinical features of FH might be found over the course of the time. In fact, the basic FH characteristic has not changed dramatically. Severe isolated hypercholesterolemia with total cholesterol 9-10 mmol/l, LDL-cholesterol 7-8 mmol/l and normal values of triglycerides dominates in laboratory analysis. Interestingly, the values of triglycerides increase and almost reach the pathological range in comparison to the values from the period 50 years ago. The values of HDL-cholesterol are normal. Manifestation of CHD in male patients over 40 years of age and in female patients over 50 years of age is not exceptional (rarely occur cases of myocardial infarction in third decade of age). Typical clinical manifestation of FH is xanthomatosis. The early detection and aggressive treatment in FH patients cause that xanthoma tendinosum, xanthelesma and arcus lipoides are less frequent as decades ago. Obesity, diabetes mellitus (DM) and hypertension do not belong to typical clinical sign of FH.

Keywords: CAD; familial hypercholesterolaemia; HDL-cholesterol; LDL-cholesterol; triglycerides; xanthoma

Received: September 30, 2014; Accepted: October 22, 2014; Published: November 1, 2014  Show citation