Women with FH & Pregnancy
Cholesterol increases significantly during pregnancy by about 25-50%. Women with FH experience the same increase, but since they are starting out at a much higher baseline, they can get extremely high cholesterol during pregnancy.
If you become pregnant, stop your statin medications immediately. Other cholesterol lowering medications, including Niacin and ezetimibe (Zetia©), should also be stopped. Fibrates such as feno-brate and gem-brozil are typically not used in patients with FH. These are primarily triglyceride-lowering medications, but if you are on one of these medications, it too should be stopped. In terms of the risk associated with taking cholesterol lowering medications during pregnancy, there are conflicting reports in the literature. In animal studies, some statins have been found to cause skeletal defects. Ezetimibe, niacin, and fibrates have all been associated with birth defects, too. Since we don’t recommend these agents during pregnancy, the human data comes from women who have unplanned pregnancies. In most cases the cholesterol-lowering medications were stopped in the first trimester, and although most babies were perfectly normal, there have been some rare reports of structural birth defects. Should you inadvertently take a statin or other cholesterol-lowering medication during pregnancy we recommend seeing an obstetrician for an immediate assessment.
With the exception of the bile acid sequestrants (BAS) such as Welchol©, cholesterol-lowering medications should be stopped prior to pregnancy to avoid extremely high cholesterol. The BAS are not absorbed into your blood stream so they pose no risk to you or your baby. The guidelines on when to stop cholesterol-lowering medications vary. The National Lipid Association (NLA) recommends discontinuation of cholesterol-lowering medications 4 weeks prior to attempting to become pregnant. The National Institute of Clinical Excellence (NICE) guidelines, on the other hand, recommend stopping cholesterol-lowering medications 3 months before attempting to conceive. Both the NLA and NICE guidelines caution women not to take cholesterol medications during pregnancy or while nursing. Some women with FH might be off their cholesterol-lowering medications for a prolonged period of time in order to become pregnant. The longer you are off your cholesterol-lowering medications, the greater the possibility that you will have plaque build-up in your heart arteries and potentially accumulate extremely high cholesterol as well.
Women with FH must come off their cholesterol lowering medications (except bile acid sequestrants – BAS) during pregnancy – this increases your cholesterol immediately. Then, just like everyone else, between the 18-36th week of pregnancy cholesterol can increase by as much as 50%. Eating a low fat, low cholesterol diet during pregnancy is extremely important, and if you have not been on a BAS such as Welchol© in the past it is important to begin. Welchol© is not absorbed into your blood stream so is safe during pregnancy. Some people notice some gastrointestinal disturbances (gas) with Welchol© but this agent does lower the LDL-Cholesterol by about 15%, so it seems worth the effort. Again, it is important to emphasize the benefits of diet. We encourage you to work with a registered dietitian who has experience in either a lipid, cardiology, or endocrinology clinic.
Each time you have a baby, you have a 50/50 chance of passing on the abnormal gene.
If you have HeFH (heterozygous FH), then your baby has a 50% chance of having FH. In the same way that you inherited a gene for LDL cholesterol removal from each of your parents, your baby will inherit one gene for LDL cholesterol removal from you and one from your partner. Because you have one normal gene and one abnormal gene, each time you have a baby you have a 50/50 chance of passing on the abnormal gene. If you have HoFH or your partner also has HeFH, then the stakes are much higher and we recommend you see a lipid specialist or genetic counselor. FH is a genetic disorder characterized by very high LDL-cholesterol. FH is an autosomal dominant disorder, which means if you inherit a single gene for FH from one of your parents, you will have FH. Other disorders are autosomal recessive disorders in which you must inherit a gene from each parent in order to display the disease. Although we still have much more to learn about the genetics of FH, we know that most people with FH have a defect in the gene for the LDL receptor. This is a receptor that sits on your liver cells and allows you to remove LDL cholesterol from your blood stream. Having one defective LDL receptor leads to about a doubling of the normal LDL cholesterol level in the blood. There are other less common genetic defects that can lead to similar LDL levels. These include a defect in apolipoprotein B, which is the protein on LDL cholesterol that allows the LDL receptor to recognize and remove LDL-Cholesterol from the blood. Still an even rarer defect is a “Gain of Function” mutation in PCSK9. PCSK9 is a protein that is responsible for destroying LDL receptors. If your PCSK9 works too well it will destroy more LDL receptors and you will be left with an elevated LDL cholesterol. There are probably other genetic defects leading to FH that we have not yet discovered for predicting and regulating extremely high cholesterol.
This is a personal choice and something you need to discuss with your partner and your health care team. It is important to know that if your cholesterol rises dramatically during pregnancy, there are some options. One such option is LDL-apheresis. This is a dialysis-like procedure that physically removes LDL-cholesterol from the blood stream on a weekly or bi-weekly basis. This 3-hour procedure involves removing blood from one arm and passing it through a special column designed to extract the LDL cholesterol, then returning the blood to the other arm. LDL-apheresis has been successfully performed during pregnancy on many young women with very high cholesterol levels. Other women are successfully managed with diet and bile acid sequestrants. Finally, there are many ways to create a family. Some people choose to adopt and others create a family with the help of a gestational surrogate.
Although everyone must decide what is best for their family, most lipid specialists would advise limiting breast feeding to 6 months, at which point you can resume your cholesterol lowering medications. For more information on breast feeding go to www.womenshealth.gov.
Many infertility medications increase cholesterol dramatically. If you are contemplating infertility treatments, it is crucial for you to have a cholesterol specialist, also known as a lipidologist. Your lipidologist should work closely with your infertility physician. You should monitor your cholesterol very closely during these treatments and have a plan for limiting the number of cycles you go through.
Women with FH face many treatment decisions and care options when planning for pregnancy. Watch the webinar below to hear from our expert, Dr. Gina Lundberg, Clinical Director of the Emory Women’s Heart Center, on considerations surrounding pregnancy, including treatment options, cholesterol questions, and pre- and post-natal care.
In addition, up-to-date, evidence based information on FH and its treatments during pregnancy and while breastfeeding, can be found on the MothertoBaby website. Although medications are often used during pregnancy, information on how safe these medications are during pregnancy is often lacking. Through observational pregnancy research (also called pregnancy registries), you can help find answers to how FH and its treatments could affect pregnancy. To view a list of research opportunities near you, visit our clinical research database.