A high blood cholesterol level is commonly caused by ingesting food items with high-fat content. However, pure/familial hypercholesterolemia is a genetic abnormality that causes people to have high levels of cholesterol irrespective of their dietary or lifestyle choices. Only about 0.3% of the American population struggle with this condition but a majority of them (about 90%) remain undiagnosed and have no idea that their condition was caused by a genetic disorder.


Hypercholesterolemia affects the liver’s ability to produce and recycle cholesterol, leading to a buildup in the body. The condition occurs in 2 forms: homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). HoFH occurs when the condition is inherited from both parents, and HeFH when inherited from one parent. HoFH presents more severe symptoms than the latter.

Common symptoms

People suffering from pure hypercholesterolemia are born with the condition but the symptoms are never apparent until after many years. Here are some common symptoms associated with hypercholesterolemia:

  • A Small, yellowish buildup of cholesterol under the patient’s eyes or close to their eyelids.
  • Wax-like deposits of cholesterol under the skin.
  • Tiny bumps around the eyes, elbows, hands, and knees.
  • Chest pain.

Complications from hypercholesterolemia

If untreated, hypercholesterolemia increases the risk of a heart attack. Men that have the condition will likely suffer from a heart attack between the ages of 40 and 50, and 85% of them will have suffered from a heart attack before they are 60 years old. Women suffering from hypercholesterolemia are liable to have a heart attack between ages 50 and 60.

People that suffer from the extremely rare HoFH are at risk of a heart attack and death before the age of 30.

If you have been diagnosed with hypercholesterolemia, please reach out to DM Clinical Research. We are working on effective treatments for hypercholesterolemia and you stand a chance of being enrolled in a clinical trial.