Children with FH
Will My Child Have FH?
By: Mary P. McGowan, MD, FNLA
My child has FH – what should I do?
First, take a deep breath and remind yourself that even if you passed the gene for FH on to your child, you cannot change your genetic make-up. This is not your fault. You probably have also passed on many wonderful traits to your child. And HAPPILY, you are living at a time when having FH no longer means you (or your child) are doomed to early heart disease. You have knowledge and knowledge is power. I recommend that you develop a healthy eating plan for your entire family and that you make a commitment as a family to lifelong exercise.
In addition to a heart-healthy diet, many experts also recommend specific cholesterol lowering dietary adjuncts, including both plant stanols and water soluble _fiber. These adjuncts have the potential to lower the LDL cholesterol by about 10%. If you are a smoker, quit. I know, this is easier said than done. Quitting smoking is a gift to you and your children. Children model their parent’s behaviors. One of the best ways to ensure that your children remain life-long non-smokers is to be a non-smoker yourself.
Many people with FH, which is one of the causes of high cholesterol in children, benefit from consulting a registered dietitian for help in developing a livable low fat diet. In my book “Heart Fitness for Life” I share many delicious recipes. The American Heart Association has many good cookbooks. And Cooking Light is one of my favorite magazine resources for great low fat recipes.
Unfortunately, although diet, exercise, maintaining an ideal body weight, and not smoking are important for everyone, these are not sufficient to correct the cholesterol profile of children or adults who have FH. For children with FH the NLA recommends aiming for either a >50% reduction in LDL cholesterol or achieving an LDL of less than 130 mg/dL. To achieve this degree of LDL reduction medications are typically necessary. Many parents, with children who develop high cholesterol at a young age, are very reluctant to begin medications in their children. As a parent, I can totally understand this. Medications can have side effects and parents worry about the consequences of taking a medication long term.
When I discuss beginning cholesterol medications with parents, I often ask what they would do if their child had type 1 diabetes, Would they agree to the use of insulin? Universally they say “of course” – without insulin a child with type 1 diabetes will die so the answer is literally a “no brainer.” Having very high cholesterol is a little different – it can be silent for many decades. But with FH, high cholesterol is the only risk factor needed for a heart attack in early adulthood. Children with FH start laying down cholesterol in their arteries (fatty streaks) as toddlers and by the time children reach the age of 12 many will already have measurable atherosclerosis. Treatment with cholesterol lowering medications can dramatically reduce the risk associated with FH. Observational studies from Europe have found that long-term cholesterol-lowering therapy with statins removes excess lifetime heart disease risk associated with FH.
At what age should my child begin cholesterol-lowering medication and which medication should he/she take?
Current recommendations from both the NLA and AAP recommend beginning cholesterol lowering medications at around the age of 8 for children with FH. Statins are the drugs of first choice. By the age of 8, a child should be able to swallow pills. At least one drug company has experimented with a chewable flavored statin, but this is not yet on the market. Six statins: rosuvastatin (Crestor®), atorvastatin (Lipitor®), simvastatin (Zocor®), pravastatin (Pravachol®), lovastatin (Mevacor®), fluvastatin (Lescol®) are FDA-approved for children 10 years of age and older (age 8 years and older for pravastatin). Depending on which statin is used and at what dose, reductions in LDL of 50% or more can be achieved with the two most potent statins rosuvastatin (Crestor®), atorvastatin (Lipitor®)]. And thankfully, Lipitor® has recently become available as a generic.
NLA and AAP guidelines: Children with FH begin medications around 8 years of age
If your child fails to achieve an LDL of < 130 mg/dL or an LDL reduction from baseline of at least a 50%, consideration should be given to adding an additional medication. In this situation your child’s health care provider might suggest a bile acid sequestrant (BAS) such as [colesevelam (Welchol®), cholestyramine (Questran®), or colestipol (Colestid®). These medications work in the intestines and are not absorbed into the blood stream. Although these medications can lower cholesterol by 10-20% and appear to be very safe, only one, colesevelam (Welchol®), has been approved for use in the pediatric population. Unfortunately, many children complain of gas while on a BAS.Finally, ezetimibe (Zetia®) is a medication that inhibits the absorption of cholesterol from the intestines. It can lower the LDL by about 20% and has been studied in children and found to be well tolerated. It is now approved by the FDA for use in children over the age of 10.
If your child is not able to achieve his/her goal cholesterol with a single cholesterol lowering medication, it is often appropriate to ask for a referral to a cholesterol (lipid) specialist. Many parents see a cholesterol specialist for the initiation of cholesterol-lowering medications but follow-up with their pediatrician, family doctor or nurse practitioner once their child’s levels are under control.
Once my child begins medication, how often should he/she be seen?
I typically see a child back 6 weeks after I start a medication. Subsequent visits might occur every 3 to 6 months. To assess liver function, blood should be drawn prior to starting therapy. The need for follow-up liver function tests is generally determined by your child’s health care provider. Repeat cholesterol profiles are usually drawn at least twice a year.
What are some of the side effects of cholesterol lowering medications?
I have already noted that the BASs can cause gas. The statins are typically very well tolerated but in some cases they can cause muscle and joint aches and can rarely cause liver function and muscle function abnormalities. Thankfully, in almost all situations, these side effects can be reversed with either stopping the drug or reducing the dose. And although Zetia® tends also to be very well tolerated, it too can occasionally cause abdominal pain and diarrhea. When Zetia is taken in conjunction with a statin, rare cases of muscle and liver function abnormalities have occurred.
After my child’s cholesterol level normalizes, can he/she come off the medication?
Unfortunately, because FH is caused by a defective gene, there is currently no cure. Medications can help normalize the cholesterol in a person with FH but if they are discontinued, the genetic disorder is again revealed. Cholesterol-lowering medications only work while you are taking them.
Cholesterol-lowering medications only work while you are taking them.
My teen has an awful diet. What should I do?
This is a very common situation that I have encountered countless times in my practice (and in my own family). Teens with FH are like any other teen, but obviously the stakes are higher for children with FH. It is very frustrating to see your son or daughter’s eating habits deteriorate. Speaking as a mother of 3 (ages 21, 18, and 12), I share your concern. Our 21-year-old went through a period of dreadful food choices. I continued to serve only healthy foods at home and over time he has come around. True, the stakes are high for children with FH, but you cannot be a police officer – it will wear you out. My best advice is to set a good example; make the foods you serve at home as healthy as possible.
My child hates to take his/her medications. What can I do?
Stick with it. The medications are crucial – there is strong evidence that statins reduce the risk of heart attack, stroke and total mortality. And heart disease is what kills young adults with FH. Your child is not at risk of a heart attack right now (unless your child has homozygous FH – more on this below), but he/she is at risk in the future. Just when people with FH should be enjoying their own children (and you, your grandchildren), a heart attack can strike – sometimes these heart attacks can be fatal. I am not trying to scare you, but I cannot stress enough the importance of getting your child into the habit of taking his/her medicines. Make it a family affair – take your medications together.
When I was in my medical training, my mentor at Johns Hopkins (Dr. Peter Kwiterovich) said to me that one of the most important reasons for starting a child with FH on statins at 8 or 9 or 10 years old is that by the time that child reaches 13 or 14 and rebels against everything you want them to do, taking medication will be so ingrained that he/she won’t think to rebel against it. Or at least you hope so! Dr. Kwiterovich imparted this little nugget of wisdom when I had only one child – a perfect 6 month old. I did not appreciate how right he was until about 13 years later. I hope this story saves you a battle!
My Child has homozygous FH (HoFH) – what do I need to know?
Many couples learn that they both have heterozygous FH (HeFH) when they have a baby who has homozygous FH (HoFH). When two people with HeFH have a child, they have a 1 in 4 (25%) chance that their child will have a completely normal cholesterol profile, a 2 in 4 (50%) chance that their child will have HeFH, in which case the child will have an LDL level similar to his/her parents, and finally a 1 in 4 (25%) chance that the child will have inherited a gene for FH from each parent, in which case the child will have a cholesterol level far exceeding either parent’s level. These children are often diagnosed at around the age of 2 when they develop xanthomas (orange cholesterol deposits on the elbows, buttocks, legs, ankles, on the tendons of the fingers and between the fingers). These physical findings prompt a cholesterol profile. In children with HoFH, the LDL cholesterol is often over 500 and can be as high as 1000 mg/dL.
Children with HoFH must see a lipidologist for immediate cholesterol lowering therapies
If your child has HoFH, he or she will require immediate cholesterol lowering medications. Your child’s response to the medications depends on their particular genetic mutation. Some children will respond quite well to high dose statins combined with ezetimibe (Zetia®) and a bile acid sequestrant. Other children will require more heroic measures such as LDL-apheresis. This is a procedure in which LDL cholesterol is physically removed from the blood every week. In the past, liver transplant was often considered in HoFH patients, but it is rarely necessary today. Children with HoFH require close follow-up with a cholesterol specialist.
Children with untreated HoFH develop very early atherosclerosis, often experiencing heart attacks in their teens. It is therefore crucial to treat children with HoFH early and aggressively. Because the aortic valve (all the blood in the heart passes through this valve on its way to the body) can develop cholesterol plaque in HoFH, children with this diagnosis often undergo much more involved heart evaluations than do children with HeFH. This can include heart catheterizations and echocardiograms. The future is bright for children with HoFH – there are many new treatments being studied which have the potential to lower their LDL level profoundly.