Stanford Center for Inherited Cardiovascular Disease

Familial Hypercholesterolemia (FH) Clinic

Familial Hypercholesterolemia (FH)

-Although you may not have heard of FH (Familial Hypercholesterolemia) it is a major health problem across the world.


-FH results from the body’s inability to clear cholesterol from the blood causing low-density lipoprotein (LDL) cholesterol to reach startlingly high levels.  Adults with FH generally have LDL cholesterol levels of 190 mg/dL and above.


-FH is a familial, or genetic, condition.  This means if one person is affected, all of the first degree relatives (parents, brothers, sisters, and children) have a 50% chance of inheriting the disease.  If one parent has FH, they have a 50% chance of passing it to each of their children.


-FH affects all races and ethnic groups and is not rare.  Approximately 1 in 500 people worldwide have FH and in some ethnic groups, the numbers can be as high as 1 in 100.  


-FH is major risk factor for heart disease.  For instance, it is responsible for 20% of all heart attacks in people 45 and younger.  If untreated, 50% of men with FH will have a heart attack by age 50 and 30% of women will have a heart attack by age 60.  The health care costs of FH are enormous.


-It is estimated that there are over 600,000 people in the U.S. alone that have this condition with only 10% of them having been properly diagnosed.  The diagnosis is made through a combination of laboratory values, physical exam findings and family history. 


-The CDC has recognized that FH is a huge health problem and has classified it as a "Tier 1" disease, meaning it has huge health implications with already existing, highly effective therapies.  In other words a "winnable" battle.  

-The good news is that FH is often treatable. With early diagnosis in addition to a proper diet and medication regimen, those with FH are able to live longer, healthier lives.

-Several new drugs to treat FH patients have recently been approved.

-It’s crucial for families that have been tragically affected by the heart attack of a young relative to be aware of FH and be screened for it by their physician.

-To learn more about familial hypercholesterolemia (FH) visit the FH Foundation website.

Leading Experts and Advocates Unite for First Summit on Familial Hypercholesterolemia


The Familial Hypercholesterolemia (FH) Summit, hosted by The FH Foundation,
will leverage shared resources to bridge the gaps in FH awareness and education.

ANNAPOLIS, MD — The inaugural U.S. Familial Hypercholesterolemia (FH) Summit, hosted by The FH Foundation, will take place September 18-19, 2013, with the goal of identifying innovative, patient-centric global solutions for this severely underdiagnosed and undertreated disease.
The Summit will bring together over 110 international FH experts from six continents, as well as public health officials, scientists, interested companies and individuals with FH to create impactful diagnostic criteria, enhance FH screening efforts, and track and measure outcomes through the use of patient registries.
“People with a history of heart disease in their families may have inherited FH,” said Katherine Wilemon, president of The FH Foundation. “More than 500,000 people in the United States are at twentyfold risk for an early heart attack and are not getting the care they need.”
Recently, the Centers for Disease Control designated FH as a national health priority, underlining the need for an urgent and systematic approach to addressing this genetic cause of the number one killer in the U.S. — heart disease.
“FH is more common than Type 1 diabetes and cystic fibrosis; however many health professionals, policy makers and the public lack awareness of FH, its diagnostic features and consequences,” said Dr. Laurence Sperling from Emory Healthcare in Atlanta, Ga. “The Summit is intended to break through this knowledge barrier and develop actionable recommendations for bringing FH to the forefront of clinical awareness.”
FH is a hereditary genetic condition that affects the body's ability to remove harmful cholesterol from the bloodstream. Individuals with FH experience extremely high levels of cholesterol and without proper treatment can suffer from early heart attacks and strokes. FH can be diagnosed through an examination of the family history and a simple blood test; however, in the U.S., it is estimated less than 10 percent of people with FH have been diagnosed.
“I finally have an understanding of the disease I am battling,” said Scott Radabaugh from Danville, Calif., who was diagnosed with FH after undergoing emergency quadruple bypass surgery. “My hope is my children and others with FH can experience an early diagnosis and receive aggressive treatment, so they can avoid the problems associated with prolonged exposure to high cholesterol levels.”
The FH Foundation will publish the proceedings and action items generated at the Summit.


About The FH Foundation
The FH Foundation is a patient-centered nonprofit organization dedicated to raising awareness of familial hypercholesterolemia (FH) through education, advocacy, and research. Our goal is to save lives by increasing the rate of early diagnosis and encouraging proactive management of FH. The Foundation provides a distinct community offering expert advice, resources, support, advocacy and empowerment. For more information, please visit www.thefhfoundation.org.

 

The Stanford Familial Hypercholesterolemia Clinic is a special focus within the Preventive Cardiology Clinic, where we provide comprehensive, compassionate care to individual patients with FH, early-onset coronary disease or strong risk factors for coronary disease, as well as their family members who may also be at increased risk. It is one of the key components of the Stanford Center for Inherited Cardiovascular Disease.

Approximately half of men and a third of women in the US will develop coronary disease during their lifetime and coronary disease remains the single largest killer of men and women in the US.

FH is Familial:

Some individuals and their families are particularly prone to developing aggressive forms of coronary disease that lead to premature disease and death. In particular, we have a particular interest in inherited conditions such as Familial Hypercholesterolemia (FH). See box on FH for more detail.

Our Approach:

One of the missions of the clinic is a ‘personalized’ approach to medical care. We have a team-based approach, including Cardiologists as well as highly experienced dieticians and nurse specialists with expertise in exercise, weight loss, risk factor reduction, and diabetes prevention and treatment.

Genetic Testing:

Our team also includes physicians and genetic counselors with experience in studying familial inheritance and interpreting genetic information. In some cases we may recommend genetic testing for FH.  Patients should also feel comfortable in bringing results of prior laboratory and genetic testing. We look forward to using our knowledge to helping patients bring ‘common sense’ to understanding their genetic test results, their risk for disease, and medical and lifestyle approaches to prevent disease for patients and their families.

Learn more about coronary artery disease

Watch a video from Joshua Knowles, MD, PhD on Familial Hypercholesterolemia below:

 

Watch a video on Genetic Screening for Familial Hypercholesterolemia below:

 

 

Stanford Medicine Resources:

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