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.
Description:
Department of Laboratory Medicine, “Nicolae Testemitanu” State University of Medicine and Pharmacy,
Chisinau, Republic of Moldova
