Familial High Cholesterol & Pregnancy

According to the Familial Hypercholesterolemia (FH) Foundation, FH is a common — 1 in 250 — genetic disorder that causes people with it to have high levels of low-density lipoprotein (LDL) or “bad” cholesterol. This leads to more cholesterol in the bloodstream. And that leads to atherosclerosis (hardening of the arteries). Patients with FH develop atherosclerosis prematurely, and this can lead to heart attacks and strokes occurring in young adults.

We wondered if FH causes problems for women who are pregnant or are trying to conceive. We spoke with an expert on the subjects of FH and pregnancy, Maria Sophocles, the founding OB/GYN at Women’s Healthcare of Princeton in Princeton, New Jersey, and a clinical assistant professor at University of Pennsylvania. She is also an FH patient herself and a mother of four children, one of whom also has FH.

Sophocles was first diagnosed with FH when her 48-year-old grandmother had a massive heart attack. Doctors found high cholesterol in her grandmother as well as all three of her children. This included Sophocles’ mother, who was 27 at the time. “My mother already had begun to develop heart disease as a woman in her twenties, and my cholesterol at age 7 was 362 mg/dL,” Sophocles said. “So, I’ve grown up with FH as a diagnosis.”

Pregnancy? Not a problem, unless. . .

Dr. Sophocles and her family on a trip to Cuba in January, 2019

Sophocles was emphatic about the impact of FH on conceiving and pregnancy: “None. There is no decrease in fertility with FH. There is no decrease in length of pregnancy,” she said. “FH mothers can breastfeed. So, no different from any other woman.”

That is true for healthy women with FH. But one of the troubles of FH can be early onset of heart disease — as with Sophocles’ grandmother and mother. If a woman with heart disease gets pregnant, then there are risks of certain complications in pregnancy. “As an example, a homozygous FH patient with very advanced heart disease, who’s already required stents and perhaps has had a heart attack, or has aortic stenosis,” Sophocles said. “She is at increased risk of having certain complications of pregnancy which occur more commonly in women with heart disease.” Homozygous FH (HoFH) is a more serious form and can result in earlier and more severe disease. Heterozygous FH (HeFH) is less severe.

Whether HeFH or HoFH makes no difference in a woman’s ability to get or stay pregnant. However, a woman with HoFH is more likely to have advanced heart disease when she becomes pregnant. This makes it more likely to have cardiac pregnancy complications. She may also need lipid apheresis to treat her extremely high cholesterol; it’s a process similar to kidney dialysis that removes “bad” cholesterol from the blood plasma. A woman with HeFH can simply stop her statin medication and resume it after she finishes breastfeeding, since statins are contraindicated in pregnancy.

Who knew?

It is not unusual for women with FH to be unaware that they have it. The FH Foundation estimates that 90% of those with FH are undiagnosed. And there is nothing about pregnancy that would cause them to get tested. However, there are things that might lead a doctor to investigate further.

“If a woman has gestational diabetes or preeclampsia, which is hypertension in pregnancy, or if she has a premature baby or a very small, poorly grown baby, those are things that make us wonder and worry about cardiovascular disease,” Sophocles said.

But this kind of “backwards diagnosis” is rare because most OB/GYNs just treat the problem in pregnancy and then aren’t involved with the patient’s cardiology issues postpartum. “Unfortunately, a lot of FH probably goes undiagnosed because the OB/GYNs think of the pregnancy as a nine-month project,” she said. “They get the baby delivered, and they’re done. But all that would be required is a postpartum cholesterol test. The test has to be postpartum. We never check lipids during pregnancy because lipids increase during pregnancy. We expect them to be abnormal.”


“If the patient is on statins, she needs to stop a month or two prior to trying to conceive,” Sophocles said. “If a woman conceives while on statin, she should have a fetal ultrasound as soon as possible. That’s because in animals, statins can negatively affect the development of the fetus.” An examination of findings from six studies of pregnant women prescribed statins found that there was an increased risk of miscarriage compared to those without statin treatment. Non-statins such as ezetimibe, niacin and fibrates have also been associated with birth defects and are therefore not indicated during pregnancy. PCSK9 inhibitors have not been tested for safety during pregnancy and are not currently approved during pregnancy.

Statins are the best and most common treatment for FH and are sometimes needed in high doses. So, what should a pregnant woman do? For starters, her pregnancy should be co-managed by an obstetrician and a cardiologist or lipid specialist.

“What most obstetricians do is take the woman off statins for the term,” Sophocles said. “FH is a lifelong issue, whereas pregnancy lasts nine to 10 months. I think most preventative cardiologists are fine with this plan. After they’re finished breastfeeding, they go back on their statins. For patients whose preventative cardiologist wants them to be treated during pregnancy, they should be put on a bile acid sequestrant such as Welchol (colesevelam). But it can be constipating, and pregnancy can also be constipating. But if a patient’s clinician wants her treated during pregnancy, then she can be put on bile acid resins and continue to control her cholesterol during pregnancy.”

Other considerations

Most women with FH don’t need any extra monitoring during pregnancy as long as they don’t have heart disease — “If the pregnant FH patient has no pre-existing heart disease, she requires absolutely nothing different during the pregnancy,” she said.

Sophocles had two other concerns for women with FH — one preconception, one postpartum. Preconception, the woman should consider the FH status of the father. When both parents have FH, the risk of HoFH, the more severe form, is higher. Does the father have a family history to suggest FH? Has he had his lipids tested? “I think every partner to every woman with FH should have a lipid screen. And if the cholesterol is elevated, that patient should have a thorough discussion with their physician,” Sophocles said. “If there is family history that suggests FH, then that patient should have genetic screening. Remember, FH is common — 1 in 250 — that’s as common as juvenile diabetes. You can’t assume the father does not have FH.” A family history that includes high cholesterol and family members who had a heart attack or a heart disease diagnosis before their 60s (for men) or 70s (for women) means FH is a possibility that should be checked out.

Sophocles suggests that parents who discover postconception that both have FH may want to consider prenatal genetic testing of their fetus.

Postpartum, FH mothers should have their child tested for FH by age 2. “I can tell you from personal experience, it is a good thing to know,” Sophocles said. “However, we don’t treat infants or toddlers with FH.” American Heart Association guidelines say that children as young as 10 can be treated with statins. According to Sophocles, “It’s certainly reasonable at one of their pediatric preventative care visits to bring it up. But I don’t think anyone has to rush their child out of the hospital nursery to get FH testing. If there is a risk that the child could be homozygous (both parents have FH), that child should be tested as early as possible.”

Sophocles had her own children between ages 31 and 38. She admits to not having her husband tested for FH before they were married: “I took his word for it, but he is not a clinician, and it did give me pause when I thought about the possibility that he was wrong,” she said. “So, he did get tested before we had our first child and he doesn’t have high cholesterol. One of our four children tested positive for the FH gene mutation and three are negative.

“The only time the FH came into play was when I was breastfeeding my last child. I was very good friends with my cardiologist, and he called me out of the blue right after the baby was born and said, ‘Look, I know you believe in breastfeeding and I know it’s good for babies, but my goal is to keep you alive for these babies as long as we possibly can, so breastfeed for a few months, give the baby the nutrition from breast milk, and then stop as soon as you feel comfortable. Because the sooner I can get you back on a statin, the sooner I’ll feel that your arteries are not accumulating plaques, and the sooner we’ll get your lipids under control.’ He really pressed me to take the FH seriously and to consider the fact that being off the statin for all those months was actually harmful to the arteries.”

Her advice to pregnant women with HeFH, the less severe form, is simple: “Enjoy your pregnancy! Take care of yourself. Do not worry about medications. By all means, breastfeed, it’s the best thing you can do for your newborn. But when you’re finished breastfeeding, please immediately get back on the medications that you’ve been prescribed for FH. For women who want to get pregnant, you will have no problems getting pregnant due to FH. Just make sure that your partner in pregnancy is not a carrier of the FH genetic mutation.”

And she added this warning for women who have complications such as preeclampsia, a growth-restricted baby, a pre-term delivery, placental problems or gestational diabetes: “Those five or six things are like a sneak peek at their future cardiac health,” she said. “It tends to predict future heart disease risk in that woman. If you have or had those complications during pregnancy, then you should have regular monitoring of your blood pressure and your cholesterol. You should not be someone who says, ‘I’ll skip it and just go to my primary care doctor if I get sick.’ No, you should consider yourself at risk for future heart disease and have regular blood pressure and cholesterol monitoring.

“And if you have high cholesterol when you’re not pregnant, or if you have a family history suggestive of early heart disease, or both of those things, you absolutely should think about FH. And you absolutely should visit the FH Foundation website. I can’t stress that enough. For women with FH, the FH Foundation is a great source for guidance, support and hope.”

Gwynne Walker’s Story

Gwynne Walker and her children Julie and Ben

Gwynne Walker and her children Julie and Ben

Gwynne Walker of Pennsylvania has known she has FH since she was diagnosed at 10 years old. Her sister was diagnosed, too. They were checked because her family history is riddled with heart disease. “So, at age 12, I was put on a cholesterol lowering medication called Questran®,” she said. “Mixed in water, this resin was so gritty that I gagged almost every time I took it. Because of this, I eventually became non-compliant and stopped taking it. However, I did continue to eat healthy and exercise throughout college and my childbearing years.”

After having her second child at age 32, she had her cholesterol checked. Of course, it was high. She went to her GP, who followed the American College of Cardiology/ American Heart Association treatment guidelines for high cholesterol and put her on a statin.

Then one of her good friends, a physician’s assistant who also has FH, suggested that she see a cardiologist who specializes in FH. “Thank God I did! The cardiologist ordered a CT scan to measure the calcium in my arteries,” she said. “My score was incredibly high which means that I have extensive atherosclerosis in my coronary arteries. Because of that score, the cardiologist has gotten more aggressive with my medication by prescribing pills that are so much easier to take than Questran®. Crestor® and Zetia® have significantly lowered my LDL.”

In 2015 she had her children tested for FH. “The good news is that my 14-year-old daughter does not carry the gene,” she said. “Unfortunately, my 12-year-old son has the genetic mutation which means that he definitely has FH.” He started taking a statin in August 2017. Her two nieces who are 17 and 15 also have FH and are on statins, as well.

Her advice for women with FH who want to get pregnant? “Don’t marry someone with FH! Or at least know what you are getting into if you do. The possibility of homozygous FH is very scary! If your child has FH, it is not scary as long as they learn to live with it, eat healthy, and take their medication. I feel that it’s important to start the medication at a young age to prevent calcification of the arteries. Calcification cannot be removed; it can only be prevented.”

image of a podcast logoListen to our Women and Familial Hypercholesterolemia podcast with Dr. Maria Sophocles and Dr. Laurence Sperling and check out our entire Familial Hypercholesterolemia podcast series.

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