Pure hypercholesterolemia, also called familial hypercholesterolemia, is an inherited condition that might raise unhealthy cholesterol levels. Molecular studies identified two genes that prevent the body from metabolizing low density lipids (LDL) efficiently. Offspring of a parent who carries a defective gene might develop higher risks of heart disease linked to pure hypercholesterolemia. Risks increase if both parents carry one or more mutated genes.
Symptoms of this condition might include skin tags called xanthomas appearing on the knees and elbows. Some patients also develop these fatty deposits in the cornea, on eyelids, or on the buttocks. Signs of heart disease caused by pure hypercholesterolemia might include chest pain that begins in a relatively young patient.
Cholesterol consists of non-soluble forms of fat called lipids, which are present in all animals and humans. The body stores these essential fats to use as energy and uses lipids to produce vitamin D in the skin. Lipids also create sex hormones and helps repair cells. Most of the cholesterol in the human body is made in the liver. About one-third comes from eating animal and dairy products.
LDL cholesterol, often called bad cholesterol, might lead to atherosclerosis, a disorder causing accumulation of fatty deposits called plaque in heart arteries that could block blood flow. Patients diagnosed with pure hypercholesterolemia typically show high levels of LDL and lower levels of high-density lipids (HDL), considered healthy cholesterol. These abnormal levels might appear in young children or adults if they inherit defective genes.
Physicians typically order blood tests to determine total cholesterol levels and levels of HDL and LDL. When pure hypercholesterolemia is suspected, genetic testing might help with a diagnosis. Doctors might explore whether parents test high for LDL and if a family history of early heart attack exists. Other medical tests might reveal how the body handles LDL.
Statin drugs and lifestyle changes represent the two most common ways to treat pure hypercholesterolemia. Reducing the amount of saturated fats in the diet from meat and dairy products, and adding healthy omega-3 fatty acids, might lower LDL levels. Eating more fruit, vegetables, nuts, and grains also might help. Some patients find exercise and weight loss beneficial.