High cholesterol is one of the biggest risk factors when it comes to heart disease, but you need to take into account that not all of its forms are going to be the same. One particular condition that is often underdiagnosed is the familial hypercholesterolemia which is a genetic condition that can cause your cholesterol levels to go up even when you are young.
Based on a research that was just presented at the ESC Congress 2019 with the World Congress of Cardiology, genetic high cholesterol is often underdiagnosed and even undertreated. It is possible that doing a screening can help patients as well as their family members who have this condition so that they will be able to do some lifestyle changes to prevent stroke and even heart attack from happening.
What is Heterozygous Familial Hypercholesterolaemia?
Familial Hypercholesterolaemia (FH) is a dangerous genetic condition that is associated with high risk of premature onset of cardiovascular disease which includes stroke and heart attack. FH is actually one of the most fatal family disorders. Those who have this condition usually have high levels of LDL or low-density lipoprotein which is linked to a mutation in the genes that clear the cholesterol from the body. Particles of LDL often accumulate in the blood which can build up the arterial walls. Children of those individuals who have this condition may have a 50% chance of acquiring this disorder.
What the Research Says
Based on the preliminary research that was presented at the American Heart Association’s Vascular Discovery conference that was held in Boston, it showed additional clues with regards to the genetic roots of the condition. The researchers at the National Heart, Lung, and Blood Institute screened 19,114 genes and were able to identify transgelin (TAGLN) as a type of gene that is interesting since previous research determined its association with LDL metabolism. When this gene was disabled in the cells, internalization of the LDL was reduced up to 27%.
According to Diego Lucero, the lead author of the study as well as a postdoctoral fellow at the Dr. Alan Remaley’s Lab at the NHLBI, the cells try to create more cholesterol as it is needed for the cells to thrive. He further stated that understanding its importance may cause a huge impact with regards to the clinical presentation of this disease.
Those who are diagnosed with FH usually exhibit high levels of LDL even at an early age which puts them at risk for having premature heart disease up to 20 times higher compared to other individuals who don’t have this condition. In the long run, this can lead to atherosclerosis where it causes a buildup of plaque including the narrowing of the arterial wall as well. What this means is that signs and symptoms of heart disease may show up earlier in those who are diagnosed with FH.
How to Diagnose FH
Diagnosing genetic high cholesterol can be done with a simple blood test if you have a family history of cardiovascular disease. Doctors will be looking at LDL levels that go beyond 190 in adults and more than 160 in children. Other markers that they will be checking for can include the onset of symptoms of heart disease before the age of 50 in women and before 60 in men. When doctors determine this, genetic testing can be done for additional confirmation.
Why Detecting Genetic High Cholesterol is Important
Why the need for detecting genetic high cholesterol? Just like with any other diseases, being able to detect genetic high cholesterol can make it easier to fight it with the aid of medications including changing one’s lifestyle too to reduce one’s risk of premature heart attacks as well as stroke.
With the recent study presented as well as further studies on identifying the genes that are linked to the development of FH may help health care professionals come up with better diagnosis as well as discover the appropriate treatment too.
Regarding treatments used for lowering lipid levels, chronic statin treatment was given to 48% of patients with FH as well as ezetimibe in 8%. Researchers learned that the drug treatments for reducing cholesterol levels were completely underused. About half of the patients did not receive any chronic treatment prior to having a heart attack that landed them in the hospital. What this means is that around half of the patients with genetic high cholesterol were not really aware that they had this condition as well as the risk it poses to them especially to their family members too.
However, with systematic screening for FH at the time a patient is hospitalized due to a heart attack may help determine whether they will be considered as high-risk patients because of their genetic predisposition. Like it was mentioned before, screening can be done using a blood test combined with a review of the patient’s family history to determine what their heart health is. By detecting the condition earlier, it may help prevent it from worsening or even triggered by taking steps such as altering one’s lifestyle to promote better heart health