Familial hypercholesterolemia (FH) is a genetic condition characterized by high cholesterol levels. Cholesterol is a type of fat. Fats play an important role helping our body work properly. Similar to how oil and water do not mix, fats like cholesterol do not mix well with blood. Proteins called lipoproteins help cholesterol travel through our blood. One type of lipoprotein is LDL, or low-density lipoprotein. LDL helps cholesterol travel through the blood. High levels of LDL can be dangerous and lead to heart disease.
Each person has two copies of every gene, one from each parent. Our genes make up the recipe for who we are. When a gene is mutated, that means that the recipe has been changed in some way. FH is inherited in an autosomal dominant pattern meaning one mutation from one parent is inherited by a child in order to cause symptoms.
Our bodies are able to re-use cholesterol, keeping cholesterol at a safe level. People with FH are not able to do this, causing high levels of LDL and cholesterol in the blood. Many people with FH do not notice symptoms until heart pain develops. Common visible symptoms are lumps of fat, called xanthomas, on the elbows, buttocks, knees, and tendons. Individuals may experience vision impairment or vision loss due to xanthomas on the eyelids or a light grey ring around the irises.
Individuals are at an increased risk of FH if there is heart disease in the family. To diagnose FH, doctors look for symptoms of the disease and use a blood test. Family history is important in making a diagnosis. FH is a treatable condition. Treatment is strongly based on making lifestyle changes like eating a healthy diet low in fats, certain meats, and dairy products and exercising regularly. There are also medications available to people with FH.
If you or a family member has been diagnosed with familial hypercholesterolemia, talk to your doctor about the most current treatment options.
Description Last Updated: Feb 25, 2018