Learn about Pediatric Lipid Disorders

For specific information on lipid disorders in children and adolescents in a printable version, click on the links below.

Familial Hypercholesterolemia Homozygous Familial Hypercholesterolemia Pediatric Hypertriglyceridemia Lipodystrophy

Familial Hypercholesterolemia

What is Familial Hypercholesterolemia?

Familial Hypercholesterolemia, or FH, is a genetic condition where people have very high levels of a type of cholesterol in their blood called low-density lipoprotein cholesterol (LDL-C), which is sometimes called the “bad” cholesterol. People who have this condition are at higher risk of early heart disease (heart attack or stroke) if their high cholesterol is not treated. FH is caused by changes in a gene that lowers the body’s ability to remove the LDL-C from the blood which makes the levels of LDL-C in the blood very high. Cholesterol builds up in the walls of arteries forming hard structures called plaques. Over time, these plaques can block the arteries and cause heart attacks or strokes.

FH is usually passed from parent to child, and in most cases, a parent with FH has a 50% chance of passing the gene that causes FH to their child. If a person is diagnosed with FH, their parents, siblings, and children should all have their cholesterol checked.

FH is more common than many people realize. Worldwide, about 1 in 300 people have FH. FH is usually a “silent disease”, meaning people don’t feel different or unwell. Most people (about 90%) with FH do not even know they have the condition.
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Criteria for Diagnosis of FH in Children and Adolescents

FH can be diagnosed by measuring blood cholesterol levels and asking about heart disease in relatives, or it can be diagnosed through genetic testing.

While there are some differences in guidelines, The following criteria can be used to diagnose FH in children, adolescents, and young adults (less than 20 years old):

  1. The person has LDL-C ≥ 160 mg/dL on at least two cholesterol panels after diet and after other causes of high LDL-C have been looked for and family history of early heart disease (heart attack, stroke, coronary stent, coronary artery bypass graft, or peripheral vascular disease) in a parent, grandparent, aunt, or uncle (≤ 55 years old for male relatives and ≤ 65 years old for female relatives), or one close relative with FH.
  2. Genetic testing shows the person has a pathogenic or likely pathogenic mutation associated with FH.




What Does a Diagnosis of FH Mean for My Child?

Children with FH have high blood levels of LDL-C that will raise their risk for a heart attack or a stroke if they are not properly treated. For many people, high cholesterol can be the result of a lifestyle that includes a diet high in saturated or trans-fat, not getting enough exercise, having an unhealthy weight, or having another medical condition like a low thyroid level or diabetes. However, children with FH can be a healthy weight, have a healthy diet, get plenty of exercise, and still have high LDL-C.

For all people with FH, a healthy lifestyle is very important but most people with FH will also need medications to lower their cholesterol level. The sooner that one’s cholesterol levels are brought down, the lower their risk of having a heart attack or stroke becomes. Children can be tested for FH with a blood cholesterol test as young as 2 years old.

Usually, FH specialists recommend that a child with FH start a cholesterol-lowering medication sometime between 8 and 10 years old. You should expect that your child will need some sort of cholesterol-lowering medication for their entire life. If people stop the medication, their cholesterol levels go back up again.

It can be very scary to think that your child needs to take medication to prevent an early heart attack, but it can also be an important way for your child and your family to take control of your health. Important healthy life skills like remembering to take medication as prescribed, getting regular activity, and eating healthy foods are easier to learn when people are young and are best learned by example! 

Children with FH can go to school, play sports, and lead normal lives. FH does not affect their ability to have a child when they are older, although they should talk to their doctor about their cholesterol-lowering medications prior to becoming pregnant.

Treatment Options for Children with FH

Guidelines recommend that children with a diagnosis of FH start taking medication to lower their LDL-C starting sometime between 8 and 10 years of age. The first choice in most cases is a type of medication called a statin. Occasionally, other medications are needed, either as an alternative first choice or as a second medication when a statin does not lower LDL-C enough on its own, but most children with FH take a statin as their only cholesterol-lowering medication. Listed below are some of the medication options to treat pediatric FH.

Statins

Statins are medications that lower cholesterol and have been widely used across the world for many years. Examples of statins include simvastatin, rosuvastatin, atorvastatin, pitavastatin, and pravastatin. By preventing the storage and production of cholesterol in the liver, statins reduce the number of cholesterol particles in the blood that can otherwise build up and lead to heart attacks and strokes. All statins are FDA approved for use in children, some as young as 8 years old, others at age 10 and older. Statins are pills that are taken by mouth, once daily, either with or without food. Statins can usually be taken with other medications. Some people can experience muscle aches with statins; however, they are usually well tolerated, and muscle aches are very rare in children. If this occurs, please talk to your Healthcare Team to decide if any new aches are related to the statin medications or related to activities like playing or exercising. These medications have been found to lower LDL-C by about 20% to more than 50% depending on the dose.

Ezetimibe

Ezetimibe may be used in addition to a statin or on its own based on the individual child’s needs and tolerance to other medications. Ezetimibe is a commonly prescribed medication that is well-tolerated. Ezetimibe works by modifying how much cholesterol is absorbed from food in the gut to the bloodstream. Ezetimibe is FDA-approved for use in children 10 years of age or older. Ezetimibe is a pill that can be taken once daily, with or without food. Ezetimibe has few side effects but may include abdominal pain, flatulence, or diarrhea. These medications have been found to lower LDL-C by an additional 20% beyond statin therapy.

Bile Acid Sequestrants

Bile acid sequestrants are used less commonly; however, they may serve as a beneficial addition to a child’s regimen to further lower cholesterol. Examples of these medications include cholestyramine and colesevelam. Bile acids are natural chemicals in the body that break down cholesterol from food in the gut to absorb cholesterol in the blood. Bile acid sequestrants are medications that bind with these substances in the gut to help prevent the absorption of cholesterol from food. This medication is commonly a powder that can be measured at the dose provided by your Healthcare Team and mixed into juice, water, or semi-solid food with a high liquid content, like applesauce. It is also available in pill form although the pills are large, and several are needed per dose. Given that these medications stay in the gut and block absorption to the bloodstream, it is advised that these medications be taken one hour before or four to six hours after other medications to ensure that the doses of other medications are properly absorbed. These medications are not absorbed and stay in the gut, which can lead to some side effects such as upset stomach, constipation, or heartburn. Typical LDL-C reduction is about 20%. The effect is additive with statins.

PCSK-9 Inhibitors

PCSK-9 inhibitors are medications typically used in addition to statin therapy but may be used on their own based on the child’s needs. One of the PCSK-9 inhibitors, evolocumab, is approved by the FDA for use in children 10 years or older. These medications are an injection that can be administered into an area of fat tissue, such as the abdomen, at home by a family member and given to a child every 2 weeks or every 4 weeks depending on the dose prescribed by the Healthcare Team. PCSK-9 inhibitors are generally well tolerated but can cause irritation, redness, or itchiness when injected. These medications have been found to lower LDL-C by about 45% to 60% beyond statin therapy.

For all of these medications, it is important to talk to your Healthcare Team prior to starting any new medications or supplements to ensure that they are safe to take with the prescribed medications. Following the start of new medications, dose adjustments, or discontinuation of certain cholesterol-lowering medications, your Healthcare Team will request repeat laboratory tests to check the impact of the medication on cholesterol levels which can serve as a marker for risk of heart disease. Additional monitoring tests, such as liver tests, may be needed on a less frequent basis. As always, if you have any concerns with medications, please discuss them with members of your Healthcare Team.

Lifestyle Recommendations for Children with FH

Lifestyle recommendations for children with FH are very similar to lifestyle recommendations for all people. Eating a wide variety of foods with plenty of fruits and vegetables, lean proteins (chicken, turkey, tofu, and shrimp are a few examples), and whole grains are key to keeping LDL-C levels as low as possible and may be able to help minimize the amount of medication someone needs.

Reducing the amount of saturated fat, cholesterol, and trans-fat in the diet can also help lower LDL-C. Cholesterol and saturated fats are from animal sources, like full-fat dairy, pork, and beef, and are also present in processed foods or fried foods. Coconut oil and palm oil should also be limited as they are high in saturated fat. Hydrogenated oils are the main source of trans fat in the diet. Some foods naturally contain small amounts, but most are added by manufacturers to processed foods. Try to avoid eating hydrogenated oils whenever possible. (You can read the ingredient list on the food label to find “hydrogenated” or “partially hydrogenated”). Some common sources of hydrogenated oils include:

  1. Commercially baked goods like cakes, cookies, and pies
  2. Refrigerated dough, like for ready-to-bake biscuits or rolls
  3. Shortening and stick margarine
  4. Some types of microwave popcorn
  5. Some types of hot chocolate mix
  6. Non-dairy coffee creamer

More heart-healthy sources of fat are fats called mono-unsaturated or poly-unsaturated fats. Common sources include olive, peanut, canola, soybean, and avocado oils. 

Regular physical activity is also very important! Encourage your child to try different activities to find something they like. Ideally, they will want to continue an active lifestyle on their own.

Finding a Pediatric FH Specialist in Your Area

Pediatric lipidology, or the treatment of high cholesterol in children, is a small but growing field in medicine. Some pediatric FH specialists are pediatric cardiologists, some are pediatric endocrinologists, some are pediatricians, and some are adult lipidologists with an interest in caring for children with high cholesterol. 

It can be challenging to find a pediatric FH specialist. Your child’s primary care provider may know the pediatric FH specialists in your area. On the website for your health care system, review providers in pediatric cardiology and pediatric endocrinology and look for key interests like “lipid clinic”, “cholesterol”, or “preventive cardiology”, or search those terms under medical conditions the system treats. We recommend that if you are interested in additional patient educational materials you visit The Family Heart Foundation at www.familyheart.org.

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Homozygous Familial Hypercholesterolemia

What is Homozygous Familial Hypercholesterolemia?

Homozygous Familial Hypercholesterolemia, or HoFH, is a rare genetic condition where people have very, very high levels of a type of cholesterol in their blood called low-density lipoprotein cholesterol (LDL-C). People who have this condition are at very high risk of early heart disease (heart attack or stroke)

 if their high cholesterol is not treated. FH is caused by changes in a gene that lowers the body’s ability to remove the LDL-C from the blood, which makes the levels of LDL-C in the blood very high. Cholesterol builds up in the walls of arteries forming hard structures called plaques. Over time, these plaques can block the arteries and cause heart attacks or strokes.

Most people with Familial Hypercholesterolemia have the more common form, heterozygous familial hypercholesterolemia, sometimes shortened to HeFH or to FH. However, if you or your child have an LDL-C > 400mg/dL, a diagnosis of HoFH should be considered.

FH is usually passed from parent to child, and in most cases, both parents of a child with HoFH have the more common form of FH. If a person is diagnosed with either type of FH, their parents, siblings, and children should all have their cholesterol checked.

HoFH is a rare disease. Worldwide, about 1 in 150,000 to 1 in 400,000 people have HoFH. 

Criteria for Diagnosis of HoFH in Children and Adolescents:

HoFH can be diagnosed by measuring blood cholesterol levels and asking about heart disease in relatives, or it can be diagnosed through genetic testing. 

While there are some differences in guidelines, the following criteria can be used to diagnose FH in children, adolescents, and young adults (less than 20 years old): 

  1. The person has LDL-C ≥ 400 mg/dL after other causes of high LDL-C have been looked for, and one or both parents have clinically diagnosed FH (link to pediatric and adult FH pages).
  2. Genetic testing shows the person has a pathogenic or likely pathogenic mutation in two copies of a gene associated with FH. They can have two copies of the exact same mutation, or they can have a different mutation in the same or different genes.

Genetic testing for people with suspected HoFH is very strongly recommended because it will help decide which medications will be the most effective for treatment.

What Does a Diagnosis of HoFH Mean for My Child?

Children with HoFH have very high blood levels of LDL-C that will significantly raise their risk for a heart attack or a stroke if they are not properly treated. These heart attacks and strokes can happen in children as young as 4 years old, so early diagnosis and treatment are very important. They also are at high risk of developing narrowing in their aortic valve (called aortic stenosis) and can have bumps on their skin called xanthomas that are due to cholesterol build up under the skin’s surface.

For many people, high cholesterol can be the result of a lifestyle that includes a diet high in saturated or trans-fat, not getting enough exercise, having an unhealthy weight, or having another medical condition like a low thyroid level or diabetes. However, children with FH can be a healthy weight, have a healthy diet, get plenty of exercise, and still have high LDL-C.

For all people with FH, a healthy lifestyle is very important but people with HoFH will require medications, usually more than one medication, to help lower their LDL-C level. Sometimes other types of treatment are needed to help reduce LDL-C levels in the blood. All people with HoFH should be in the care of a lipid specialist. They usually need monitoring tests including echocardiograms, CT scans, and sometimes cardiac catheterizations.

Treatment Options for Children with HoFH

Guidelines recommend that children with a diagnosis of HoFH start taking medication to lower their LDL-C starting as soon as they are diagnosed. The first choice in most cases is a type of medication called a statin but usually more than one medication is needed. Listed below are some of the medication options to treat pediatric FH:

Statins

Statins are medications that lower cholesterol and have been widely used across the world for many years. Examples of statins include simvastatin, rosuvastatin, atorvastatin, pitavastatin, and pravastatin. By preventing the storage and production of cholesterol in the liver, statins reduce the number of cholesterol particles in the blood that can otherwise build up and lead to heart attacks and strokes. All statins are FDA approved for use in children, some as young as 8 years old, others at age 10 and older. Statins are pills that are taken by mouth, once daily, either with or without food. Statins can usually be taken with other medications. Some people can experience muscle aches with statins; however, they are usually well tolerated, and muscle aches are very rare in children. If this occurs, please talk to your Healthcare Team to decide if any new aches are related to the statin medications or related to activities like playing or exercising. Among patients without HoFH, these medications have been found to lower LDL-C by about 20% to more than 50% depending on the dose; however, patients with HoFH may have variable responses based upon their specific gene mutation.

Ezetimibe

Ezetimibe may be used in addition to a statin or on its own based on the individual child’s needs and tolerance to other medications. Ezetimibe is a commonly prescribed medication that is well-tolerated. Ezetimibe works by modifying how much cholesterol is absorbed from food in the gut to the bloodstream. Ezetimibe is FDA-approved for use in children 10 years of age or older. Ezetimibe is a pill that can be taken once daily, with or without food. Ezetimibe has few side effects but may include abdominal pain, flatulence, or diarrhea. These medications have been found to lower LDL-C by an additional 20% beyond statin therapy.

PCSK9 Inhibitors

PCSK-9 inhibitors are medications typically used in addition to statin therapy but may be used on their own based on the child’s needs. One of the PCSK-9 inhibitors, evolocumab, is approved by the FDA for use in children 10 years or older. These medications are an injection that can be administered into an area of fat tissue, such as the abdomen, at home by a family member and given to a child every 2 weeks or every 4 weeks depending on the dose prescribed by the Healthcare Team. PCSK-9 inhibitors are generally well tolerated but can cause irritation, redness, or itchiness when injected. These medications have been found to lower LDL-C by about 45% to 60% beyond statin therapy.

Evinacumab

Evinacumab is used specifically in children with HoFH who are 5 years of age and older in addition to other cholesterol-lowering therapies to lower LDL-C. Patients prescribed evinacumab may also be undergoing lipid apheresis (see below). Evanicumab works in the body by helping to increase the activity of molecules that break down cholesterol. This medication is dosed based upon a patient’s body weight and administered by a healthcare professional through an intravenous (IV) infusion directly into the bloodstream every 4 weeks. This medication is generally well tolerated and side effects mainly consist of flu-like symptoms. These medications have been found to lower LDL-C by over 50% beyond other cholesterol-lowering therapies.

Inclisiran

Inclisiran is a part of a new class of medications used in addition to statin therapy to significantly decrease LDL-C. Although currently not specifically indicated for use in children, including adolescent patients, with HoFH, ongoing trials aim to demonstrate safety and efficacy in this population. Despite this, some providers may recommend the use of this medication if other therapies are not effective and benefits outweigh risks. Inclisiran works by modifying how effectively the liver removes LDL-C from the blood. This medication needs to be administered by a healthcare professional and is injected into an area of fat tissue; however, it is only administered every three to six months. Inclisiran is generally well tolerated with the most common side effects being redness or irritation at the injection site and less commonly, joint pain or cold-like symptoms. These medications have been found to lower LDL-C by more than 50% beyond statin therapy.

Bile acid sequestrants

Bile acid sequestrants are used less commonly; however, they may serve as a beneficial addition to a child’s regimen to further lower cholesterol. Examples of these medications include cholestyramine and colesevelam. Bile acids are natural chemicals in the body that break down cholesterol from food in the gut to absorb cholesterol in the blood. Bile acid sequestrants are medications that bind with these substances in the gut to help prevent the absorption of cholesterol from food. This medication is commonly a powder that can be measured at the dose provided by your Healthcare Team and mixed into juice, water, or semi-solid food with a high liquid content, like applesauce. It is also available in pill form although the pills are large, and several are needed per dose. Given that these medications stay in the gut and block absorption to the bloodstream, it is advised that these medications be taken one hour before or four to six hours after other medications to ensure that the doses of other medications are properly absorbed. These medications are not absorbed and stay in the gut, which can lead to some side effects such as upset stomach, constipation, or heartburn. Typical LDL-C reduction is about 20%. The effect is additive with statins.

Lipid Apheresis

LDL apheresis is a medical therapy for patients who are not able to meet their LDL cholesterol goal with medicines and lifestyle changes. This procedure physically removes LDL cholesterol from the blood. Blood is removed from one arm and goes through a special filtering machine that removes LDL cholesterol. The newly filtered blood, with a much lower LDL level, is then returned to the other arm. Medical professionals monitor patients during the procedure, which takes 2 to 3 hours and is generally performed once every other week.

Liver transplant or heart/liver transplant

LDL-C is removed from the blood by the liver. Liver transplantation can be done to help restore the ability to clear LDL-C in children with HoFH. If a person with HoFH also has abnormal heart function due to plaque buildup and/or previous heart attacks, a heart transplant is sometimes performed at the same time as a liver transplant. This treatment is not used very often and is only done in specialized medical centers.

For all of these medications, it is important to talk to your Healthcare Team prior to starting any new medications or supplements to ensure that they are safe to take with the prescribed medications. Following the start of new medications, dose adjustments, or discontinuation of certain cholesterol-lowering medications, your Healthcare Team will request repeat laboratory tests to check the impact of the medication on cholesterol levels, which can serve as a marker for risk of heart disease. Additional monitoring tests, such as liver tests, may be needed on a less frequent basis. As always, if you have any concerns with medications, please discuss them with members of your Healthcare Team.

Lifestyle Recommendations for Children with HoFH

Lifestyle recommendations for children with HoFH are very similar to lifestyle recommendations for all people. Eating a wide variety of foods with plenty of fruits and vegetables, lean proteins (chicken, turkey, tofu, and fish are a few examples), and whole grains are key to keeping LDL-C levels as low as possible. Reducing the amount of saturated fat, cholesterol, and trans-fat in the diet can also help lower LDL-C. 

Regular physical activity is also very important! Encourage your child to try different activities to find something they like. Ideally, they will want to continue an active lifestyle on their own. 

Finding a Pediatric Lipid Specialist in Your Area

Pediatric lipidology, or the treatment of high cholesterol in children, is a small but growing field in medicine. Some pediatric HoFH specialists are pediatric cardiologists, some are pediatric endocrinologists, some are pediatricians, and some are adult lipidologists with an interest in caring for children with high cholesterol. 

It can be challenging to find a pediatric HoFH specialist. Your child’s primary care provider may know the pediatric lipid specialists in your area. On the website for your health care system, review providers in pediatric cardiology and pediatric endocrinology and look for key interests like “lipid clinic”, “cholesterol”, or “preventive cardiology”, or search those terms under medical conditions the system treats. We recommend that if you are interested in additional patient educational materials, you visit The Family Heart Foundation at www.familyheart.org, or to find a provider in your area you can use our Find a Clinician Tool.

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Pediatric Hypertriglyceridemia

What is Pediatric Hypertriglyceridemia?

Triglycerides are a type of fat that circulates throughout the bloodstream. Hypertriglyceridemia means an increased blood level of triglycerides. When this occurs in a person under the age of 18 years old it is called pediatric hypertriglyceridemia. While triglycerides are useful in normal amounts, levels that are too high can cause health problems in the short term and long term. Pediatric hypertriglyceridemia rarely shows presentable symptoms and can only be identified by doing a lab screening, which is recommended for ages 10 and 18 years old when a history of high-risk conditions or a family history of related issues is present.

Pediatric hypertriglyceridemia usually occurs due to an unhealthy diet in persons predisposed to high triglycerides for reasons we do not yet fully understand. Often, people with a diet high in saturated or trans fats or high in carbohydrates for long periods of time can also become overweight or obese. So, while many with pediatric hypertriglyceridemia also have overweight or obesity, roughly 40% have normal weight. We know that pediatric hypertriglyceridemia is very common, affecting 20% or more of all kids 8 to 17 years old. In rare cases, the levels are extremely high, usually due to an identifiable genetic cause or other medical condition, or as a side effect of medication. 
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Criteria for Diagnosis of Hypertriglyceridemia

Hypertriglyceridemia is diagnosed by a blood test done after no food or drink (except water) is consumed for several hours; this is called a fasting cholesterol or lipid panel. On a fasting cholesterol panel, normal triglyceride levels depend on age. Hypertriglyceridemia is defined in children 10 years or older as at or above 130 mg/dL. In children 9 years old or younger, hypertriglyceridemia is defined as at or above 100 mg/dL Often, low levels of HDL (high-density lipoprotein cholesterol) are also present, defined as below 40 mg/dL. We begin to suspect a genetic cause if the triglyceride level is over 1,000 mg/dL.

What Does a Diagnosis of Pediatric Hypertriglyceridemia Mean for My Child?

Higher triglycerides in childhood are associated with heart disease in adulthood, like heart attack, stroke, and heart failure. However, high triglycerides do not commonly cause heart diseases in childhood. Modifying the triglyceride levels during childhood appears to improve early signs of heart disease like fatty build-up in the blood vessels. Therefore, identifying silent high triglycerides with fasting cholesterol panel may be helpful to prevent heart disease in the future.

Severely high triglycerides above 1,000 mg/dL are a different and complicated issue. When triglycerides are very high, the major concern is the occurrence of acute pancreatitis, which can happen at any time. The pancreas is an organ with many functions including the production of enzymes that break down food in our intestines. It is not known exactly how extremely high triglycerides cause pancreatitis. However, it is thought that there can be local release of enzymes, which should be used to break down protein and fat in food, causing damage to the pancreas. Pancreatitis can cause severe abdominal pain, nausea, vomiting, and a variety of other complications within hours to days. If untreated, pancreatitis can be life-threatening; and therefore, patients and families caring for them must be vigilant for this possibility and connect with members of the Healthcare Team if pancreatitis is suspected. Preventing this complication is difficult so early attention and treatment are warranted.

Lifestyle Recommendations for Children with Pediatric Hypertriglyceridemia

Guidelines recommend children with hypertriglyceridemia make dietary changes, preferably under the guidance of a registered dietitian. Key changes include the reduction of simple carbohydrates and sugars especially those in drinks with sugar (whether natural or added sugar) and from refined starches including breads, noodles, rice, and potatoes. Instead, substitutions can include:

  • Sugar-free drinks
  • Whole grain breads
  • Whole wheat noodles
  • Brown rice
  • Quinoa

Lean proteins should be emphasized like fish, chicken, or turkey without the skin, nuts and nut butters, low-fat dairy like soft cheeses (mozzarella, ricotta, and cottage cheese are examples), Greek yogurts, and eggs. Equally important is maximizing the intake of high-fiber and non-starchy vegetables like carrots, cucumbers, cauliflower, broccoli, spinach, etc. Starchy vegetables like potatoes, corn, or peas are less helpful. Avoiding too much saturated and trans-fat is good for overall health but focusing on low carbohydrates is essential to lower triglycerides. A lower carbohydrate approach may be associated with a roughly 27% reduction in triglycerides on average in a few months, although results vary. Achieving five hours of sweat-producing activity weekly also helps. If obesity is present, working towards a healthy weight is helpful to continue lowering triglycerides, but the above dietary changes are helpful even without weight loss.

For those with severe hypertriglyceridemia due to genetic mutations, reducing carbohydrates and sugar could be slightly helpful, but these rare conditions are treated with a very low-fat diet, usually less than 20 grams of fat per day. This diet is very restrictive, and consultation with a registered dietician who has expertise in lipid disorders is needed to avoid nutrition deficiencies. If your child has genetically driven severe hypertriglyceridemia, you should speak with your child’s Healthcare Team about an appropriate dietary plan.

Treatment Options for Children with Pediatric Hypertriglyceridemia

After six months of the above changes, if levels are still high, medications can be considered with discussions about the benefits and limitations of medications. The first step is increasing omega-3 fatty acids through capsules containing these fats. If ineffective, a next step would be medicines such as fibrates or in, rarer situations, niacin. Medications like statins generally have very modest benefits for triglycerides. While there are no specific medications that are approved by the FDA to reduce triglycerides in children, experts often support the use of medications that can be used in adults with this condition. A detailed discussion of the risks and benefits of using medications to lower triglyceridemia

Omega-3 fatty acids (“fish oils”)

Omega-3 fatty acids are medications that are widely available over the counter, meaning without a prescription, or with a prescription from a member of your Healthcare Team. These include two specific omega-3 fatty acids, known as EPA and DHA, that specifically help to lower triglycerides, Given the variability of concentrations of EPA and DHA and lack of demonstrated benefit from fish oils available without a prescription, it is recommended that for the treatment of hypertriglyceridemia in children, prescription fish oils be used. Prescription omega-3 oils are often gel-like capsules that contain liquid omega-3 oil and can be given once or twice daily, depending on the prescribed dose. They should be given with a meal and should not be broken or crushed before swallowing. These medications are typically well tolerated but can lead to some upset stomach and fishy-smelling burps while rarer side effects include variable heart rates or increased risk of bleeding. Fish oil medications should not be used in patients with a seafood allergy, and a child’s Healthcare Team should be consulted if there is a concern for bleeding, such as dark stools or easy bruising.

Fibrates

Fibrates are a class of medication that reduces triglycerides by reducing the creation of triglycerides and the breakdown triglycerides in the body. Examples of these medications include fenofibrate or gemfibrozil. Fenofibrate is the most used medication in this class and can be given at variable doses, mostly once daily, with or without food, in a capsule or tablet formulation. These medications may cause a risk of muscle aches when used with statin medications. Monitor for these muscle aches when the cause is not known and discuss with the Healthcare Team if this occurs. Patients with a history of gallbladder issues or kidney disease may need to avoid these medications; however, for individuals without these conditions, they are typically well tolerated.

Statins

Although used less commonly for hypertriglyceridemia, statins are medications that lower cholesterol and have been widely across the world for many years. Examples of statins include simvastatin, rosuvastatin, atorvastatin, pitavastatin, and pravastatin. By preventing the storage and production of cholesterol in the liver, statins reduce the number of cholesterol particles in the blood that can lead to heart attacks and strokes. All statins are FDA approved for use in children, some as young as 8 years old, others at age 10 and older. Statins are pills that are taken by mouth, once daily, either with or without food. Statins can usually be taken with other medications. Some people can experience muscle aches with statins; however, they are usually well tolerated and are very rare in children. If this occurs, please talk to your Healthcare Team to decide if any new aches are related to the statin medications or related to activities like playing or exercising. 

Niacin

Niacin, a medication used rarely in children, is a medication to lower triglycerides that works by preventing the production of triglycerides in the liver. Niacin comes in many different doses in a pill form that is often given once daily at bedtime with a low-fat snack. Most forms of niacin should not be crushed. A common side effect of niacin may be flushing of the skin which can occur shortly after a dose is given. If a child is an adolescent (e.g., over 16 years old), some clinicians may recommend giving aspirin before niacin to prevent the flushing; however, this should not be done without first speaking to the Healthcare Team as aspirin should not be used in young children. Niacin can also cause stomach and liver problems and should only be used with careful supervision by the Healthcare team. 

For all of these medications, it is important to talk to your Healthcare Team prior to starting any new medications or supplements to ensure that they are safe to take with prescribed medications. Following the start of new medications, dose adjustments, or discontinuation of certain cholesterol-lowering medications, your Healthcare Team will request repeat laboratory tests to check the impact of the medication on cholesterol levels which can serve as a marker for risk of heart disease. Additional monitoring tests, such as liver tests, may be needed on a less frequent basis. As always, if you have any concerns with medications, please discuss them with members of your Healthcare Team.

Finding a Pediatric Cholesterol/Lipid Specialist in Your Area


The treatment of high cholesterol in children is a small but growing field in medicine. Some pediatric lipid specialists are pediatric cardiologists, some are pediatric endocrinologists, some are pediatricians, and some are adult lipidologists with an interest in caring for children with high cholesterol. 

Your child’s primary care provider is your key medical home base to find lipid or cholesterol specialists in your area. On the website for your health care system, review providers in pediatric cardiology and pediatric endocrinology and look for key interests like “lipid clinic”, “cholesterol”, or preventive cardiology”, or search those terms under medical conditions the system treats.

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Lipodystrophy

What is Lipodystrophy?

Lipodystrophies are a group of rare diseases involving the unexpected loss of body fat from various places of the body. They are frequently associated with conditions like high blood sugar, diabetes, high triglycerides in the blood, and an abnormal amount of fat in the liver. The fat loss can vary from very small areas on one part of the body to almost no fat in the entire body. Lipodystrophy can be inherited (genetic) or caused by other illnesses or drugs (acquired).

Genetic lipodystrophies: These are caused by gene changes and can show up soon after birth or later in life depending on type of gene change. Congenital generalized lipodystrophy and familial partial lipodystrophy are the two main types of inherited lipodystrophy; the other types are extremely rare.

Acquired lipodystrophies: These usually occur during childhood, adolescence or adulthood and can be caused by medications such as medications to treat HIV, from autoimmune disorders, or due to unknown reasons (this is called “idiopathic”). Common types of acquired lipodystrophy include acquired generalized lipodystrophy (Lawrence syndrome) and acquired partial lipodystrophy (Barraquer-Simons syndrome).
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Criteria for Diagnosis of Lipodystrophy

Diagnosis of lipodystrophy is based on a detailed medical history and a thorough clinical exam to evaluate body fat loss. Tools used to help measure the loss of body fat including skin fold measurements, dual-energy X-ray absorptiometry (DEXA), and whole-body MRI. A variety of other tests including genetic testing can be helpful for the patient and family members who may be at risk for genetic lipodystrophies. In patients with acquired lipodystrophy, there are special lab tests that can be ordered, including serum complement levels and autoantibodies. These tests help can help with the diagnosis of four major types of lipodystrophies:

  • Congenital generalized lipodystrophy
  • Acquired generalized lipodystrophy
  • Familial partial lipodystrophy
  • Acquired partial lipodystrophy 

What Does a Diagnosis of Lipodystrophy Mean for My Child or Adolescent?

Patients with suspected lipodystrophy typically need specialized testing and they should be referred to a lipid specialist. Some patients with lipodystrophies can develop health problems related to lipodystrophy. Some examples include diabetes requiring very high insulin doses, very high levels of triglycerides (extreme hypertriglyceridemia), abnormal fat storage in the liver, heart problems, and potentially life- threatening inflammation of the pancreas (acute pancreatitis). Once the diagnosis of lipodystrophy is made, clinicians should find out if the lipodystrophy is generalized, partial, or localized. In generalized forms, total or near-total loss of fat underneath the skin can be observed over the entire body. In partial forms, fat loss affects large areas, particularly the arms, and legs, but fatty tissue may build up in areas such as the abdomen, face, and neck. Localized forms of lipodystrophy are limited to small body areas.

A child or adult with lipodystrophy lacks fat under the skin either in some places or all over. People with lipodystrophy can have very muscular appearing arms and legs even if they are not strong or athletic. Sometimes there is fat in unusual places such as the neck. These features can lead to embarrassment and body shaming as well as to health problems.

Lifestyle Recommendations for Children with Lipodystrophy

One size does not fit all for lipodystrophy. Families should work closely with their child’s medical team to determine what works best for their unique type of lipodystrophy. In general, simple sugars should be avoided and high-fiber complex carbohydrates are preferred. If triglycerides are very elevated, it is important to follow very low fat (<20 grams) diet. Individual needs differ, and seeing a registered dietitian nutritionist with experience in this area can be very helpful. Below are just a sample of ideas:

Breakfast Ideas

  • Nonfat fruit and yogurt parfait
  •  1 cup nonfat Greek yogurt (plain or vanilla with minimal added sugar or sweetened with non-nutritive sweetener)
  • ½ cup berries
  • ½ cup original Cheerios (or can use Multigrain cheerios)
  •  Scrambled egg (1 whole egg + 2 egg whites) with 1 slice whole wheat toast and 8oz glass nonfat milk
  • Breakfast sandwich (egg whites + reduced fat slice of cheese + whole wheat English muffin)
  • 1 cup original Cheerios + ¼- ½ cup blueberries + nonfat milk or unsweetened milk alternative
  • Smoothie made with nonfat plain Greek yogurt, 1 cup fruit of choice, 1 tsp chia seeds or ground flaxseed

Lunch Ideas

  • Sandwich (whole wheat bread, uncured deli turkey meat, reduced fat or fat-free cheese, lettuce/tomato), 1 small apple, carrot sticks with nonfat Ranch dressing
  • Salad with grilled chicken, tomatoes, cucumbers, carrots, baked croutons, and reduced-fat salad dressing.
  • ½ whole wheat pita filled with grilled chicken, lettuce, cucumbers, and 1-2 Tbsp hummus: pair with baked chips

Snack Ideas

  • 3 cups air-popped popcorn
  • 1 cup fruit
  • ½ cup fruit with 1 reduced-fat cheese stick

Dinner Ideas

  • Homemade air-fried fish sticks (made with white fish), roasted broccoli and cauliflower, corn.
  • Turkey tacos (ground turkey for protein, reduced fat cheese, lettuce, tomato, salsa) with 1-2 whole wheat tortillas.
  • Spaghetti made with ground turkey breast, marinara sauce, and chickpea pasta or whole wheat pasta. Serve with a side salad.
  • Grilled or baked chicken with roasted sweet potato and carrots

Treatment Options for Children with Lipodystrophy

Metreleptin therapy with a diet described above should be considered for generalized lipodystrophy. Metformin and insulin therapy are usually needed for patients with diabetes. Triglyceride-lowering therapies like fibrates and fish oil are needed for patients with hypertriglyceridemia.

Metreleptin

Metreleptin is an injected medication that acts like a naturally occurring substance called leptin. Leptin is a protein that helps to regulate fat stores in the body and also how the brain perceives satiety the feeling of being full after eating).  It is used by patients with lipodystrophy who may not be producing fat tissue appropriately. This medication should be diluted in sterile water and injected into a fatty area of the skin such as the abdomen once daily around the same time each day. The specific dose of the medication depends on the weight of the child and should be decided by the Healthcare Team. It can be taken with or without eating. There can be risks with this medication, including changes in blood sugar and a risk of some cancers; however, it can still play a crucial role in patients’ management of this condition in collaboration with the child’s Healthcare Team.

Fish Oils

Fish oils are medications that are widely available over the counter, meaning without a prescription, or with a prescription from a member of your Healthcare Team. Fish oils are contain two omega-3 fatty acids, known as EPA and DHA, that help to lower triglycerides, Fish oils that are available without a prescription contain differing amounts of EPA and DHA and may not work well. Prescription omega-3 fish oil should be used for treating hypertriglyceridemia in children. Prescription fish oils are gel-like capsules that contain liquid omega-3 fish oil and can be given once or twice daily, depending on the prescribed dose. They should be taken with a meal and should not be broken or crushed before swallowing. These medications are usually well tolerated but can lead to some upset stomach and fishy-smelling burping. Very rare side effects include variable heart rates or increased risk of bleeding. Fish oil medications should not be used in patients with a seafood allergy, and a child’s Healthcare Team should be consulted if there is a concern for increased bleeding, such as dark stools or easy bruising.

Fibrates

Fibrates are a class of medication that reduces triglycerides by reducing the creation of triglycerides and the breakdown triglycerides in the body. Examples of these medications include fenofibrate or gemfibrozil. Fenofibrate is the most used medication in this class and can be given at variable doses, mostly once daily, with or without food, in a capsule or tablet formulation. These medications may cause a risk of muscle aches when used with statin medications. Monitor for these muscle aches when the cause is not known and discuss with the Healthcare Team if this occurs. Patients with a history of gallbladder issues or kidney disease may need to avoid these medications; however, for individuals without these conditions, they are typically well tolerated.

For all of these medications, it is important to talk to your Healthcare Team prior to starting any new medications or supplements to ensure that they are safe to take with prescribed medications. Following the start of new medications, dose adjustments, or discontinuation of certain cholesterol-lowering medications, your Healthcare Team will request repeat laboratory tests to check the impact of the medication on cholesterol levels, which can serve as a marker for risk of heart disease. Additional monitoring tests, such as liver tests, may be needed on a less frequent basis. As always, if you have any concerns with medications, please discuss them with members of your Healthcare Team.

Finding a Pediatric Lipid Specialist in Your Area

Pediatric lipidology, or the treatment of high cholesterol in children, is a small but growing field in medicine. Some pediatric lipid specialists are pediatric cardiologists, some are pediatric endocrinologists, some are pediatricians, and some are adult lipidologists with an interest in caring for children with high cholesterol. 

It can be challenging to find a pediatrician that specializes in lipodystrophy. Your child’s primary care provider may know the pediatric lipid specialists in your area. On the website for your health care system, review providers in pediatric cardiology and pediatric endocrinology and look for key interests like “lipid clinic”, “cholesterol”, or “preventive cardiology”, or search those terms under medical conditions the system treats.

Lipodystrophies are rare disorders. So many people with lipodystrophy do not know anyone else who has this problem. Patient groups like Lipodystrophy United can connect patients with lipodystrophy with other people with the same disorder.

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The Foundation would like to thank Regeneron for their charitable contribution to create this resource.