Familial Hypercholesterolemia

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At UT Southwestern Medical Center, our doctors are dedicated to exceptional care for people with heart disease. Our familial hypercholesterolemia (FH) team offers the most advanced diagnostic and treatment options to manage FH, a genetic condition that can lead to early heart attacks. 

Advanced Care for Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited (passed from parent to child) genetic disorder that causes high levels of low-density lipoprotein (LDL, or bad) cholesterol. People with FH have a higher risk of heart disease and heart attacks, but the condition can be successfully treated.  It is not a rare condition – it affects as many as one in every 250 people – but most don’t know they have it. 

Our FH specialists have advanced training and specialized expertise in diagnosing and treating people with FH, and our research has been instrumental in developing treatments for high cholesterol.

All in the family: A genetic link for critically high cholesterol

She hasn’t even reached double digits in age, but her cholesterol has soared to 400. Genetic testing confirms 9-year-old Zoe Allen has familial hypercholesterolemia – a condition stretching at least three generations back in her family. Over the years, UT Southwestern has helped great-grandmother, grandmother, mother, and daughter all cut their cholesterol in half. 

UT Southwestern molecular genetics professors Drs. Michael Brown and Joseph Goldstein led research in the 1980s seeking answers to how people develop high cholesterol. They identified the basic mechanism of cholesterol metabolism, which led to the 1985 Nobel Prize in Physiology or Medicine.

Pioneering research by Dr. Helen Hobbs – Director of the Eugene McDermott Center for Human Growth and Development and a Howard Hughes Medical Institute Investigator – and her colleague, Dr. Jonathan Cohen, has provided novel insights into the genetic basis of cholesterol metabolism. Together with the work of other investigators, their research led to the development of a new class of agents to treat hypercholesterolemia, approved by the FDA in 2015.

Most recently, research by Dr. Zahid Ahmad and Dr. Amit Khera, the two doctors in FH clinic, has shown that patients with FH often do not get appropriate treatment. Dr. Ahmad and Dr. Khera are investigating new ways to identify and improve care for these individuals. Their work also includes clinical trials of new drugs for the most severe form of FH – homozygous familial hypercholesterolemia. 

Combining compassionate care with advanced clinical resources and the latest research, we help patients achieve their best possible health.

Causes of Familial Hypercholesterolemia

FH most commonly results from a gene defect on chromosome 19, which people can inherit from one or both parents. The genetic defect prevents the body from effectively removing LDL cholesterol from the bloodstream, causing LDL to build up in the blood.

High levels of LDL increase the risk of atherosclerosis, or narrowing of the arteries. Atherosclerosis occurs when plaque (made up of cholesterol and other fatty substances in the blood) builds up in the arteries, causing blockages. Atherosclerosis can lead to heart attacks at an early age.

Image courtesy of FH Foundation

Symptoms of Familial Hypercholesterolemia

In the early stages, people with FH might not experience any symptoms. When signs and symptoms do appear, they can include:

  • Chest pain (angina)
  • Cholesterol deposits in the eyelids, called xanthelasmas
  • Cholesterol deposits, called xanthomas, on the skin, especially on the hands, elbows, knees, and ankles (Achilles tendon)
  • Cramps in the calves while walking
  • High levels of LDL cholesterol, seen in a blood test
  • Nonhealing sores on the toes
  • Stroke-like symptoms that appear suddenly, such as difficulty speaking, one side of the face droops, and weakness on one side of the body

Diagnosing Familial Hypercholesterolemia

Our FH specialists have extensive experience diagnosing FH and ruling out other conditions with similar symptoms. We begin with a thorough evaluation that includes a:

  • Physical exam, which can reveal xanthomas and xanthelasmas
  • Review of personal and family medical history, especially high cholesterol or early heart attacks in parents or other family members
  • Discussion of symptoms

To confirm a diagnosis, we usually recommend additional tests, such as:

  • Blood tests: To check levels of LDL cholesterol, other types of cholesterol, total cholesterol, and triglycerides
  • Genetic testing: Tests a patient’s DNA sample to check for the genetic defect associated with FH

If a patient’s test results show the person has FH, we help their first-degree family members – parents, siblings, and children – get tested for the genetic defect.

Treatment for Familial Hypercholesterolemia

Proper treatment can successfully lower LDL cholesterol levels and reduce the risk of atherosclerosis, heart disease, and heart attacks. Our FH specialists work closely with patients to create treatment plans that are customized to each patient’s individual needs.

We treat FH with lifestyle changes and medications to control blood levels of LDL cholesterol and to lower risks of heart attacks and strokes. Our recommendations for healthy habits include:

  • Heart healthy diet with less saturated fat, less cholesterol, and more fiber
  • Physical activity
  • Weight loss, for people who have excess body weight

All patients with FH will need medications to reduce LDL levels. Diet and exercise alone will not be enough to lower the LDL to good levels with this genetic condition. Options for medications include:

  • Statins to reduce the liver’s production of cholesterol and help remove cholesterol from the blood
  • Cholesterol absorption inhibitors that reduce the amount of dietary cholesterol absorbed by the small intestine into the bloodstream
  • Bile-acid-sequestering resins that bind to bile acids, stimulating the liver to use excess cholesterol to produce more bile acids needed for digestion
  • Injections of cholesterol-lowering medications referred to as PCSK9 inhibitors

For people who have extremely high blood levels of LDL cholesterol, UT Southwestern is one of the few centers in the country that offers LDL apheresis. In this procedure, small amounts of blood or plasma are removed from the body, processed through special filters to remove extra LDL cholesterol, and returned to the body.

Family screening is critical since up to half of close family members, including children of patients with FH, will also have FH. Family screening includes:

  • Checking cholesterol levels in close relatives
  • Doing genetic testing in families to confirm diagnosis (cascade testing)
  • Connecting to our pediatric partners specialists who treat FH when children are diagnosed

Support Services

UT Southwestern offers specialized services to support patients with heart disease and their families. Learn more about our heart support services.

Clinical Trials

Our FH specialists continue to be active in research to improve treatment. We are involved in an ongoing trial for homozygous FH. We are also a site for the national CASCADE FH registry, in which patients can get access to the latest care options and information.

Dr. Joshi in the News

Dr. Parag Joshi recently appeared on the 'Today' show alongside three generations of patients who have been treated for FH at UT Southwestern.