Genetically high cholesterol.
It's classified as a type 2 familial dyslipidemia.
FH patients are at the highest risk for the number one killer worldwide - heart disease.
There are two types, the most severe and rarer one being homozygous FH (1 in 300,000 have HoFH, inherited from both parents). Most people have heterozygous FH (1 in 250 people have HeFh, inherited from one parent).
Most people are undiagnosed.
Untreated, it can mean a 20-fold increased risk (2000% more risk) for ASCVD (atherosclerotic cardiovascular disease). This is life-threatening.
According to NICE Clinical Knowledge Summaries (CKS), untreated FH in 20–39-year-olds have a 100-fold increased risk of death from heart disease when compared to their normal peers.
- Lipid panel (cholesterol test)
- The Dutch Lipid Clinic Network (DLCN) criteria
- CT Coronary Angiogram and calcium score
- FH genetic test (and find out which specific genetic type you have)
- cascade screening for family members
- stress test
- Lp(a) test
- apolipoprotein levels; apo B & apo A1
- CRP
Most cholesterol health authorities advise maximally tolerated statin therapy as a basic/initial course of action.
Doctors may then introduce ezetimibe, aspirin, PCSK9 inhibitors, niacin etc.
LDL apheresis is usually used in severe HoFH cases.
Being a genetic condition means family history of premature heart disease (1st degree relative, under 65 years old) is a good indicator of increased health risks for FH patients.
For example, both my maternal grandparents had coronary atherosclerotic heart disease in their 50s.
Though statin therapy is relatively cheap, the best treatment can be expensive. Some people will have government subsidised PCSK9 inhibitor treatment, some will have to self-pay. See your national medical guidelines, and/or health insurance policy.
While your FH cholesterol levels are not much affected by diet and exercise, a healthy diet and active life does prolong your lifespan by decreasing your heart disease risks and improving your general health.
For people at very high risk (e.g. have FH), the ideal safe zone is <70mg/dL, as the Family Heart Foundation advocates.
For people with FH, I found one authority advocating for LDL to be below 55 mg/dL.
In Australia, people with major risk factors for ASCVD are advised to keep LDL below 1.8mmol/L.
In the US, the unit is mg/dL.
In Australia, it is mmol/L.
To change mg/dL to the SI unit of mmol/L, multiply the value by 0.02586.
To change mmol/L to mg/dL, multiply the value by 38.67.
I will admit I had depression and anxiety when I first understood my diagnosis fully. But you will get through it. You end up with an added appreciation for life.
There are many clinical trials for treating FH.
The most futuristic technologies relevant to FH treatment involves gene therapy. Look out for words like antisense therapy, gene editing, CRISPR...
Become an FH advocate, look after yourself and others, create change.