Heterozygous Familial Hypercholesterolaemia
A personal health journey
A version of this story can be read on an FH organisation's website: https://fhaustralia.org.au/xis-story/
I have HeFH. Genetically high cholesterol.
Sadly, my self-conscious FH journey began late. It was only in my late twenties that my psychiatrist wanted my cholesterol tested for the first time. He was concerned about my general health. When my results came back, my Total Cholesterol was over 10 and my LDL Cholesterol was over 7. I was told to see my GP about it. My local GP looked at my results and gave me a fact sheet about a low cholesterol diet. He did not mention medication or genetics, nor did he do further tests.
I tried to become vegetarian, and though my cholesterol remained unchanged, I was not overweight, and so I promptly forgot about my high cholesterol.
My first GP retired, and years passed. It wasn’t until I was in my early thirties that I went to a new GP. He tested my cholesterol as a routine health check. I only then remembered my previous discovery of having abnormally high cholesterol. My new GP referred me to a cardiologist immediately after receiving the results, and he said, using the Dutch Lipid Clinic Network Score, I appeared to have FH. Then this GP moved on, and I got yet another new GP. My new GP put me on a moderate dose of atorvastatin, telling me if I did not medicate, I would develop heart disease in ten years’ time. My cardiologist gave me a stress test and a CT Coronary Angiogram. The only hint of how life-threatening cholesterol damage could become, was when he said he hoped my arteries were not “furred up”. He then told me I had FH. Thankfully, my stress test result was perfectly healthy, and my calcium score was zero. Because my heart was in such good health, my cardiologist told me to see him again in 5 years’ time. The cardiologist, like the GP, agreed that I was to take 20mg of atorvastatin, though I was also told to start taking 10mg of ezetimibe.
Thankfully, my GP always urged me to increase my statin dosage, saying the liver side effects were a small price to pay for the benefit of reducing my heart disease risk. Finally, her words got through to me, and after almost a year of disagreements with my GP and my own persistent research into FH, using online resources like the Family Heart Foundation, I told my GP to prescribe to me the maximum dose of 80 mg of atorvastatin. At this point in time, I was starting to direct my own treatment plan by requesting to have my statin dosage increased and self-educating myself through reputable medical resources online, from scientific journals to heart associations’ websites. Increasingly concerned about my FH status and simultaneously horrified to know of how it could shorten my lifespan, I decided to take control of my own health. I empowered myself through knowledge, then protected myself through self-advocating.
I lost weight, dieted, exercised and asked for help in cholesterol management. I shifted towards a plant-based diet, then finally aspired to be a vegan. I saw the Family Heart Foundation as a life-saving representative of people like me. The Family Heart Foundation also advised people to get their cholesterol as low as humanly possible, and to take the maximally tolerated or highest dose of lipid-lowering therapy available. It was through this foundation that I first encountered the advice that every FH sufferer should get a FH specialist or lipidologist on their personal healthcare team. And so was born my desire to be managed by someone other than my GP or cardiologist. I wrote a draft letter about my health and asked my GP to use it to write a referral for me to the RPA’s Vascular Health Clinic, which is a specialist in FH care, and I was accepted, after a waiting period, as one of their patients. At the RPA I was tested for the FH gene(s) and my Lp(a) level was tested. I am now managed by them.
On 80mg of atorvastatin and 10mg of ezetimibe, I have had my cholesterol reduced to a minimum of: Total Cholesterol 3.3 and LDL Cholesterol 1.5. My second and last calcium score was zero again, and this is in part due to my ongoing adherence to FH treatment.
On the 11th of February 2025, a leading RPA Hospital FH specialist approved my request to be treated with Incliseran (Leqvio) through the public system. I would have privately paid the full cost of going on a PCSK-9 inhibitor myself if given the chance. As it happened, my treatment will be subsided by the PBS, which means I barely pay anything out of pocket. Mostly importantly, this improvement in my treatment is the result of self-educating myself about FH online and advocating for myself to receive the best medical care from doctors at every given opportunity.
I hope this story is helpful, like the Family Heart Foundation in the USA, FH Australasia Network, and FH Australia. One day, I hope that FH will become a harmless condition through improvements in healthcare. With my story, I hope to inspire everyone to take care of themselves. Thank you.
