Diagnosis of family hypercholesterolemia - LDL receptor deficiency

Abstract

Introduction Family hypercholesterolemia (FH) is an autosomal dominant genetic desease. Despite the scientific progress made in recent years, FH tends to remain a challenge in terms of obtaining a clear diagnosis, a complete and lasting response to treatment. Purpose We studied the role of the gene involved and the consequences of its mutations. Material and methods The information was analyzed using the PubMed, Medscape and MEDLINE search engines. Results One of the causative mutations is located in the LDLcholesterol receptor gene. Affected subjects, have high values of total serum cholesterol (> 7.8 mmol / L) and LDLcholesterol (> 4.94 mmol /L). FH is present from childhood, being asymptomatic, but if left untreated, 50% of men will suffer a heart attack by the age of 50 and women by the age of 60. The gold standard for FH patients would be Real time PCR genotyping, using TaqMan probes or new generation sequencing. Diagnosis of early mutation is paramount because FH is associated with an increased risk for premature coronary heart disease. Conclusions Although difficult, the molecular diagnosis of FH has a positive impact leading to an increase in the proportion of patients who start or intensify cholesterol lowering therapy, thus preventing and slowing the progression of atherosclerosis.