Notice the invisible!
An invisible threat to women,
Familial Hypercholesterolaemia
Join us on this journey to learn more about Familial Hypercholesterolaemia (FH) in women, which will allow you to take effective steps to protect your loved ones. Become a promoter for health for the women in your life!
Familial Hypercholesterolaemia (FH) is the most common inherited disease that causes dangerously high cholesterol, leading to premature death.However, almost 90% of people with FH are undiagnosed and untreated.This diagnosis is even more urgent in women, as it affects their family planning decisions and, when pregnant, the health of the mother and the baby!
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Another stat1 in 10
affected90%
Undiagnosed patientsWhat is Familial
Hypercholesterolaemia?
Familial Hypercholesterolaemia (FH) is a inherited disorder characterized by the lifelong elevation of LDL-C, commonly known as the “bad” cholesterol.If left untreated, people with FH will accumulate LDL-C in their blood vessels and develop premature cardiovascular diseases, such as myocardial infarction.Thus, the disease requires permanent lipid-lowering therapy. Also, as FH is a genetic disease, it can be passed down through generations.
What should I consider if becoming a mother?
Therefore, pregnant women and women considering becoming pregnant should be closely monitored by their physician to ensure the safety and wellbeing of both the mother and the baby!
That's how it is caused
FH is most commonly caused by mutations in the gene LDLR, on chromosome 19, which codifies the low-density lipoprotein (LDL) receptor. Other genes associated with FH are apoB and PCSK9. Mutations in these genes affect the way our bodies regulate the levels of cholesterol in the blood, resulting in the accumulation of cholesterol in blood vessels.
Every person has 2 copies of the genes associated with FH, however most people with FH have a mutation in one of these copies. When there are mutations in only 1 of the copies, it’s called “heterozygous familial hypercholesterolemia” (HeFH). When both copies carry mutations, it’s called “homozygous familial hypercholesterolemia” (HoFH). As people with HoFH don’t carry a healthy copy of the affected gene, their LDL-C levels will be much higher and they will develop cardiovascular diseases often earlier than people with HeFH,: before the age of 20 years compared to 55 and 60 years in men and women,
Prevalence and Diagnosis
The prevalence of HeFH in the population is estimated to be 1 in 300. This means that over 34 million people worldwide have FH! On the other hand, HoFH is a rare disease, with a prevalence of 1 in 160.000 - 320.000. However, only a minor percentage of individuals with FH are identified and properly treated.The diagnosis of FH is based on clinical presentation and/or genetic diagnosis. There are many criteria that can be used, but the most common are the criteria from the Dutch Lipid Clinic Network.
When to suspect?
Adults
Children
Family history of any of the following
Other symptoms
FH Also Increases Risk of:
Lifestyles adjustments which can help lower the risk
Family Planning
Before becoming pregnant, all women should perform a health check up. This is particularly important for women with FH. Since FH is a genetic disease, the children of women with heterozygous FH have a 50% chance of having FH and the children of women with homozygous FH have a 100% chance of hiving heterozygous FH. In the prenatal consultation treating FH health care professionals can discuss the specificities concerning the transmission of FH and its management during pregnancy and lactaton, reducing the risks for both the mother and the child.
When considering pregnancy, you should first:
Perform a prenatal health check-up and testing with their treating FH health care professional.
Your partner should be offered cholesterol screening and, when necessary, genetic counseling and testing.
The purpose of this procedure is to assess the risk of having a child with HoFH!
Receive counseling regarding their lipid-lowering therapies and adjust them to the pregnancy and lactation period
The optimal time for determining genetic risk and discussing the availability of prenatal genetic testing is before pregnancy. This gives women a chance to discuss their reproductive options beforehand.
Receive counseling regarding transmission of FH. In some countries cord blood DNA testing is possible to assess if the baby has FH or not.
The optimal time for determining genetic risk and discussing the availability of prenatal genetic testing is before pregnancy. This gives women a chance to discuss the management during pregnancy and lactationbeforehand.
Pregnancy management:
In addition to the generally recommended lifestyle changes in pregnancy, pregnant women with FH should pay special attention to the following:
Nursing Mothers
Most, but not all, cholesterol lowering medications are contraindicated during pregnancy and may also be unsafe during breastfeeding.
