Guide To Metabolic Disorders

Familial Hypercholesterolemia

Familial hypercholesterolemia is an inherited condition that causes an individual to have high cholesterol. Mutations in the FH genes located on different chromosomes are what causes an individual to have familial hypercholesterolemia. There are no symptoms in an individual who has high cholesterol until damage has been done to the blood vessels. Symptoms that occur in familial hypercholesterolemia precipitated tissue damage include chest pain with exertion, fatty deposits on multiple parts of the body, cholesterol deposits around the eyelids, and gray-white cholesterol deposits around the patient's corneas. Blood tests are used to diagnose familial hypercholesterolemia in patients that measure levels of total cholesterol and low-density lipoprotein (LDL) cholesterol. Individuals are diagnosed by meeting criteria with total cholesterol levels over 260 milligrams per deciliter in children and 290 milligrams per deciliter in adults. Levels of LDL cholesterol in patients are over 155 milligrams per deciliter in children and 190 milligrams per deciliter in adults. Genetic testing may also be conducted to diagnose familial hypercholesterolemia. Treatment involves taking cholesterol-lowering medications and adhering to a strict diet.

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