Hypercholesterolemia is a condition which causes high levels of cholesterol in the blood. According to the Familial Hypercholesterolemia Foundation, it is estimated that 1 in 250 people worldwide have hypercholesterolemia.
Cholesterol is a wax-like substance that is produced in the body and is present in foods like poultry, fish, dairy products, and egg yolks. The body requires cholesterol to build cell membranes, produces certain hormones and compounds. However, excess cholesterol is harmful to the body and can lead to heart disease and stroke .
Causes Of Hypercholesterolemia
Familial hypercholesterolemia is passed on by parents due to a genetic mutation in one of the three possible genes. One of the genes produces a protein called LDL receptor (LDLR), which eliminates low-density lipoprotein (LDL) or bad cholesterol from the blood.
In familial hypercholesterolemia, transformation occurs in this gene that prevents them from producing LDLR, resulting in an increase in bad cholesterol that builds up in the bloodstream and gets deposited in the blood vessels.
Another reason for the rise in bad cholesterol levels is when the APOB and PCSK9 genes are altered.
Usually, the liver works in making good cholesterol, however, in familial hypercholesterolemia, the liver is unable to recycle cholesterol or regulate cholesterol levels, resulting in high cholesterol levels.
There are two types of familial hypercholesterolemia:
ALSO READ: Fournier Gangrene: Causes, Symptoms, Risk factors, Treatment, And PreventionSymptoms Of Hypercholesterolemia
The symptoms rarely occur and are not visible when it is in its early stages. However, some people may experience the following symptoms:
Diagnosis is done by inquiring about the person's symptoms and asking about any family history of the condition. The doctor may also check for the cholesterol deposits that have built up in the body. In children, if it is higher than 250 mg/dl, and in adults, higher than 300 mg/dl, then it is a cause of concern.
Blood tests are done to check a person's total cholesterol levels. Genetic testing can also detect the genetic mutation by identifying the changes in genes, proteins or chromosomes. Several methods are used for genetic testing like molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests.
ALSO READ: Diabetes Drug Can Cause Flesh-Eating Genital Infection, New Study RevealsTreatment Of Familial Hypercholesterolemia
The treatment depends on the severity of the symptoms and how high cholesterol levels are. Prescription medications are recommended to lower their overall cholesterol levels.
People with high cholesterol levels may also need to go through a procedure called LDL apheresis, a process involving the removal of excess cholesterol from the bloodstream.
The most common medication for familial hypercholesterolemia is atorvastatin, which keeps cholesterol levels in check. Other medications include bile acid sequestrant resins, fenofibrate, ezetimibe, nicotinic acid, or niacin and gemfibrozil.How To Manage Familial Hypercholesterolemia
Implementing certain lifestyle changes can keep your cholesterol levels in moderation. These include:
ALSO READ: Achondroplasia: Causes, Symptoms, Diagnosis And Treatment