Familial Hypercholesterolemia, sometimes abbreviated to just “FH” is a disorder that is inherited generationally. FH leads to premature fast-developing cardiovascular disease. Genetic mutations in these patients cause the liver to be incapable of metabolizing excess LDL (Low-density lipoproteins) (sometimes referred to as ‘bad cholesterol’). This can lead to stroke, heart attack, and heart valve narrowing.

Because of the inability to metabolize LDL cholesterol early-onset cardiovascular disease occurs in nearly 1.3 million people in the USA alone. The bad news is this is only a rough estimate due to the fact that nearly 90% of them do not know about their condition yet. This is according to the American Heart Association.

The child a person who has been confirmed to have FH holds a 50% chance of having been passed down the disorder, therefore, it is essential to screen parents, siblings and children of someone diagnosed with FH and alert others who may also have inherited the gene.

Most people with FH have variants in one of three genes: APOB gene, LDLR gene, and PCSK9 gene. So far discovered there are over 2,000 known variants. the number of mutations you inherit directly affects the form of FH you may have.

1 Inherited Mutation – Heterozygous Familial Hypercholesterolemia (HeFH), one abnormal mutation is passed down to a child, usually by just one parent.

2 Inherited Mutations –  When the mutation for HeFH is passed on from both parents to their children this can result in Homozygous Familial Hypercholesterolemia (HoFH), the more rare and severe form of FH.

FH cannot be treated by diet alone. Though managing your diet can certainly help.

Knowing the signs of Familial Hypercholesterolemia can help you spot it and get treatment early on, and found early, it is treatable.

The Symptoms of FH:
LDL Cholesterol greater than 190MG/DL

Swelling in the Achilles tendons (ankles)

Yellow deposits around the eyes
May present no visible symptoms

Treatment for FH includes pharmacologic lipid-lowering therapy, lifestyle changes, and if left too long without diagnosis or treatment it can result in the need for liver transplantation.

If you suspect possible FH or you have a family history its a good idea to get tested. A simple blood test is all that is needed. Tell your doctor your suspicions and allow them to do the correct tests to confirm or set your mind at ease.

If you are in the Tampa, Florida area we invite you to schedule a consultation and screening with our office. Our number is 813-975-2800 and you may learn more about Tampa Cardiovascular Associates at www.tampacardio.com.