Ashkenazic link to high LDL levels

Doctors are calling on Ashkenazi Jews to take precautions and be aware of a health issue with a genetic link that affects one in 60 Ashkenazi Jews as compared to one in 500 in the general population.

Familial hypercholesterolemia (FH) is a genetic disorder that causes high levels of LDL (low density lipoprotein or “bad”) cholesterol. The genetic defect that can manifest with only one gene passed down from one parent, makes it difficult for the body to remove the LDL cholesterol from the blood.

People should be concerned when they have levels of about 190 LDL in adults and 160 in children, said Dr. James A. Underberg, Clinical Assistant Professor of Medicine in the Division of General Internal Medicine at NYU Medical School. He is also director of the Lipid Clinic at Bellevue Hospital. Those with FH commonly range in the mid 200s. There are 1600 known genetic mutations that can cause FH, he said, but “when you have it, it looks the same; there are subtleties in levels of cholesterol. Most have elevated cholesterol; some have depositions of cholesterol around the eyes, on the Achilles tendon, called zanthomas.” He said that many have it and think it’s a sports injury, since in appears as a lump. “They have severely elevated cholesterol levels” and thus a “significantly elevated risk of dying from heart attack or stroke.” The overall average over the course of a lifetime is a 20 times greater risk of heart attack or stroke for someone with FH than someone without FH.

“It’s not fatal at birth,” he said, and it does “not impact someone’s decision to have kids,” but “later on in life you might want to do more about it.”

Current recommendations, as of the end of 2011, from the NHLBI (National Heart, Lung and Blood Institute) and the National Lipid Association, call for all children between ages 9 and 11 to be screened for cholesterol. Underberg said that two year olds should be screened for cholesterol if a parent has FH or if there is a strong history of early (premature) cardiovascular disease such as “dad died in his forties from a heart attack, to be aware of the condition and promote a heart healthy lifestyle.”

Underberg pointed out that FH was first described by physicians in the 1930s and in the 1970s Dr. Michael Brown and Dr. Joseph Goldstein discovered the LDL receptor that controls cholesterol levels in the blood and cells and noted that mutations in this receptor cause FH. Their research paved the way for statins, drugs that prevent the creation of cholesterol, that make more receptors for LDL, lowers cholesterol in the blood and prevents heart attacks. Over 20 million people around the world use statins. Brown and Goldstein received the Nobel Prize for Medicine or Physiology for their work. “They are kind of like rock stars in my business,” said Underberg.

There is a push now to increase awareness of FH because of two new organizations, the FH Foundation, begun this past year and the National Lipid Association begun two years ago, said Underberg. The first national awareness day for FH will be on September 20th. “As they develop more treatments, there are more reasons to be aware of it because they have a host of available therapies and other new ones on the horizon to change how these people live. It’s very exciting.” He also stressed an “international awareness highlighting guidelines for managing this” and that in the next few months the U.S. government with also be releasing new guidelines and they are “hoping that attention will be paid to FH in the new guidelines. All this is contributing to increased awareness.” He said that although genetic screening is better than it was ten years ago it is still expensive but will hopefully be less expensive in the future enabling more people to be screened and aware of FH. But now, stressed Underberg, “we need to promote awareness in doctors and in populations at greater risk—they should know that they are at risk. They should screen all first degree family members of documented cases with cholesterol screening. Genetic screening is too expensive for this. I don’t think that all members of a high risk group have to be screened, just if a relative” has it.

Dr. Mitchell Weiler, a pediatrician in Cedarhurst, said he tests children for cholesterol between ages 9 and 12 and has seen many patients with FH. The one or two very young patients that inherited the gene from both parents manifesting the most difficult form with very high levels of cholesterol at a very young age he referred to a specialist. He said high cholesterol is “common,” genetic and may be controlled by diet.

Treatment for FH begins with diet, reducing saturated fat and cholesterol intake, increasing exercise, refraining from smoking, and controlling weight. “If I had a child with FH, I would want them to lead a very heart healthy lifestyle,” emphasized Underberg. He also noted that those of Lithuanian Jewish descent have an even greater risk. He noted that patients with FH have to be diagnosed and that they have to be told it’s treatable because if it’s not treated “for many people their first heart attack is their last heart attack.” Some may not tolerate statins but there are other medications and other treatments and new therapies on the horizon, he said. Some of these include Zetia, bile acid sequestrants, niacin, LDL apheresis, new injectable medications that target RNA, or block the protein that breaks down the LDL receptor, or an oral drug that blocks the assembly of the precursor to LDL.

“You shouldn’t just ignore it till you’re older,” warned Underberg. “If you wait, you will have heart disease at an early age. If you have the condition in your twenties, why wait till you are in your forties, by then the cat’s out of the bag. If a young person is told that they have it they may go and do treatment and then be around when their kid grows up.”

For more information go to

www.learnyourlipids.com,

or www.theFHfoundation.com.