Although many of us recognize the dangers of high cholesterol, most people are unaware that elevated levels of LDL-C could be a sign of possible familial hypercholesterolemia. FH is usually caused by a loss-of-function mutation in the LDL receptor gene, a mutation in the gene responsible for apolipoprotein B (APOB), or by a gain-of-function mutation in the PCSK9 gene (proprotein convertase subtilisin/kexin type 9). These mutations make it hard for our bodies to remove excess LDL-C from the blood.
FH comes in two forms: homozygous and heterozygous. Patients diagnosed with homozygous FH carry two copies of the defective gene, and their symptoms are more severe and appear as early as childhood. However, patients with heterozygous FH still have a significantly high risk of developing coronary heart disease within the fourth or fifth decade of life without proper treatment.
Detecting possible familial hypercholesterolemia early on can be crucial for preventing or delaying the onset of heart disease. Here are three reasons why this condition needs more attention.
1- Children of FH patients have a high risk of developing atherosclerotic cardiovascular disease at a young age.
FH can be detected from early childhood. People with FH have inherited the gene from one or both of their parents and they are born with high cholesterol. As a result, screening for the disorder can begin as soon as age 2 or 3. The American Academy of Pediatrics recommends cholesterol screening for all children between the ages of 9 and 11.
The severity of FH is greatly impacted by LDL-C levels. While mutations of LDL receptors play a major role in the development of the disorder, environmental factors could also be considered. Nevertheless, detecting possible familial hypercholesterolemia during childhood enables doctors to keep a close eye on patients and treat high cholesterol levels more effectively.
Most importantly, diagnosing FH early on makes it easier for physicians to encourage young patients to stay away from risky behaviors and adopt healthy lifestyles instead. Furthermore, taking preventive measures may help kids persuade other relatives to have their cholesterol levels measured.
Children of FH patients aren’t the only family members who may be susceptible to developing FH. Relatives are also encouraged to monitor their cholesterol levels. The likelihood of being diagnosed with FH increases for first-degree relatives of patients with the disorder. As a result, screening standards will be different based on the degree of relationship between the FH patient and a relative. Detecting possible familial hypercholesterolemia can be accomplished by analyzing a family’s history of high cholesterol throughout childhood.
3- Many FH patients remain at high risk for coronary heart disease or even death in the fourth or fifth decade of life if FH is left untreated.While statins have proven to be helpful in treating FH, patients must also adopt a healthy diet which restricts foods high in saturated fats and cholesterol to help lower LDL-C. The FH Foundation is committed to raising awareness about familial hypercholesterolemia. For more information on how to get involved, contact the FH Foundation today.