Familial hypercholesterolemia – when should we consider it?

Abstract

Familial hypercholesterolemia (FH) is a hereditary condition, most often autosomal-dominant trait that is characterized by high levels of cholesterol, especially low-density lipids (LDL) that cause premature cardiovascular conditions (atherosclerosis, myocardial infarction) compared to healthy individuals. The lack of awareness among medical specialists leads to late diagnosis and treatment with cardiovascular complications mainly affecting young patients.

In the current case report we present a 46-year old male with coronary artery disease diagnosed years ago, admitted to the Interventional cardiology department of Heart and Brain hospital due to а consecutive acute myocardial infarction with ST-elevations. Despite the presence of all of the required criteria, familial hypercholesterolemia was not diagnosed for 15 years.