Basic Information
Facts
Cholesterol:
A waxy, fat-like (lipid) substance that the body needs for normal functioning (like making cells and hormones and for digestion), but too much leads to heart disease. It is made by the liver (the liver makes all the cholesterol you need) and is found in some animal-based foods.
FH = familial hypercholesterolemia/hypercholesterolaemia= Genetically high cholesterol.
It's classified as a type 2 familial dyslipidemia/dyslipidaemia
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.
Health Risk
Untreated, it can mean a 20-fold increased risk (2000% more risk) for ASCVD (atherosclerotic cardiovascular disease). This is life-threatening.
Why is Cholesterol dangerous?
a) high cholesterol leads to plaque build-up in arteries, or atherosclerosis b) narrowed arteries occur when plaque builds up, narrowing and hardening arteries, thus reducing blood flow c) narrowed arteries increase your risk for heart attack, stroke, vascular dementia and other heart-related problems.
The Centers for Disease Control and Prevention (CDC) designates three hereditary conditions as Tier 1 genomic applications: Lynch syndrome (LS), Hereditary Breast and Ovarian Cancer Syndrome (HBOC), and Familial Hypercholesterolemia (FH). These conditions have significant potential for public health impact due to their early detection and intervention.
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.
Tests to do
- 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
Basic Treatment
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.
Niacin is sometimes used to lower Lp(a), in patients with elevated Lp(a), which is a still little known risk factor for developing heart disease. Currently, there are no standard treatment methods for reducing Lp(a).
Family History
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.
Money
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.
Lifestyle is still important
While it is generally acknowledged your FH cholesterol levels are not much affected by diet and exercise, a healthy diet and active life combined does prolong your lifespan by decreasing your heart disease risks and improving your general health.
Scientific research has in fact found a diet low in saturated and trans fats and cholesterol and daily moderate-intensity aerobic physical activity can generally increase your good cholesterol (HDL-cholesterol) and decrease you bad cholesterol (LDL-cholesterol).
Maintaining a healthy body weight can reduce your cholesterol. A 5-10% reduction of your weight can result in significant cholesterol reduction.
Reduction of alcohol intake, eating fibre-rich food, choosing lean and mostly plant-based protein sources can all have beneficial effects.
LDL level
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 and heart disease, 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.
Cholesterol Unit conversion
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.
Mental Health
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.
New Genetic Possibilities
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...
Advocate
Become an FH advocate, look after yourself and others, create change.
The work of magnificent organisations like the Family Heart Foundation are working hard and successfully to raise awareness, both in the healthcare workforce and the general population, of this condition so that more people can quickly be diagnosed and treated and managed.
Like I have done, write and talk about your own FH experience. Join up with others and organisations to increase awareness, funding and services for FH sufferers worldwide. Go on fundraising walks, buy healthy heart merchandise, and above all make no excuses for yourself when you choose to look after yourself better, letting no one compromise your quality of life and self-care.
