Identification of Familial Hypercholesterolemia Amongst Patients With Premature Acute Coronary Syndrome, Follow-up and Treatment

Familial hypercholesterolemia (FH) is a genetic disorder, defines as high cholesterol levels, particularly very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular events and premature death. FH is an autosomal dominant disease with a prevalence of 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent than Cystic fibrosis, mellitus diabetes or neonatal hypothyroidism. Canadian registry demonstrated FH is more common among some specific population such as French Canadian, Christian Lebanese, and Afrikaner descent. The Major causes of FH are pathogenic variant in the LDL-receptor (LDLR) gene or the Apo lipoprotein B (APOB) gene. The clinical signs of FH are high level of Cholesterol (between 350-550 mg/dL in heterozygous), Yellow deposits of cholesterol-rich fat in various places on the body such as around the eyelids (known as xanthelasma palpebrarum), the outer margin of the iris (known as arcus senilis corneae), and in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (known as a tendon xanthoma).FH is a hidden syndrome which leads to cardiovascular disease.

Acute coronary syndrome is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart.

A study in Switzerland has shown that 50% of patients with premature ACS have FH. Thus Investigators can screen FH with high probability amongst patients with acute coronary syndrome.

After introducing the statins total mortality have reduced significantly in these patients. Thus screening and identification of patients and treatment with the most effective therapies will decrease the risk of premature death.

Also, most of patients require an appropriate lipid-lowering medication. Although the genetic problem is the most important factor to expression of FH, other factors like environmental and metabolic factor can be effective in CVD and premature death.