Familial hypercholesterolemia (LDLR-related)

People with familial hypercholesterolemia (LDLR-related) (FH) can experience very high levels of cholesterol, particularly LDL-C cholesterol, which can cause fatty substances to build up in the blood from a young age. If left untreated, this can cause problems such as coronary heart disease (CHD).

People with FH can benefit from medications and lifestyle changes to help lower their cholesterol levels and improve their quality of life.

Quick facts about familial hypercholesterolemia (LDLR-related)
Genes: LDLR
Relevant resources for familial hypercholesterolemia (LDLR-related)

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

Learn more about genetics

How is familial hypercholesterolemia (LDLR-related) inherited?

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes familial hypercholesterolemia (LDLR-related), but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

Learn more about carrier screening

Should parents screen for familial hypercholesterolemia (LDLR-related) before or early in pregnancy?

The biggest benefit of screening for familial hypercholesterolemia (LDLR-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Wondering if this test is right for you?

Take a two minute quiz to find out.