Dr Mirzaee says this is a very important topic because high cholesterol is one of the most important modifiable risk factors for cardiovascular disease and yet many doctors aren’t aware of the latest lipid guidelines and advancements in this field.
“There are a lot of gaps in most medical practitioners’ knowledge on this subject,” he says. “If you have high cholesterol, your doctor needs to go thru a check list of your family history straight away and see whether a hereditary element is involved. If it is, then it is recommended it is treated by statins – not just diet and exercise.”
A heart attack at a young age is a warning
Dr Mirzaee says he works with cardiologists and specialists at hospitals and they sometimes get a patient who has a heart attack at the age of 30: “In hereditary lipid disorders, fixing a heart attack by putting a stent in and providing heart protective medications and sending them home is like a Band-Aid. No-one asks any questions about why this 30-year-old man or woman has had a heart attack so early.”
Dr Mirzaee says this condition is “topical” at the moment because a new medication has come on to the market where previously there wasn’t much other treatment available. “This is perhaps one of the reasons the disease has been underdiagnosed.,” he adds.
He says, many patients who know they have a family tendency to have high cholesterol – because they may have had a family member who has died from a heart attack or stroke with a high cholesterol – are often cautious, doing a lot of exercise and eating the right diet. But he says they are still at high risk due to underlying genetic defect: “Even when they take a lot of care with their lifestyle, without pharmacotherapy, they can still sadly suffer a heart attack or early stroke. Thus, they need to have the proper treatment and often this is not happening.”
Case histories show disturbing patterns
Dr Mirzaee says he’s looked back over case histories of patients and found several examples where a heart attack might have been prevented: “Here’s an example – I looked back over the history of a 31-year-old man with FH who had a significant heart attack resulted in substantial ischemic heart failure. I saw he had been seeing his GP for two to three years and was coming up with very high cholesterol. He saw his GP once or twice a year with elevated cholesterol and was told to watch his diet, do some exercise and more physical work and come back for review.”
“He kept seeing his GP until he had a heart attack. So it’s a big shame that his FH was underdiagnosed and undertreated resulted in significant heart attack. I believe it is very optimistic if a medical practitioner assumes they can get high cholesterol of 9 or 10 mmol/Lso down to normal, just by diet and exercise. The GP has probably missed the big picture that this was a case where the high cholesterol was a genetic disease and it’s not going to get back to normal without proper medical treatment,” he adds.
Two different types of ‘high cholesterol’ in patients
Dr Mirzaee is quick to point out there are two types of ‘high cholesterol’ or ‘Hypercholesterolemia’ in patients. He says practitioners need to be able to screen their patients to find out which type they have, adding: “This is the greatest challenge in this area for general practitioners – to be able to differentiate between these two types of patients – because the treatment and prognosis is different.”
“There are those for whom their Hypercholesterolemia is caused by hereditary or familial factors and we call this Familial Hypercholesterolemia or FH. Then there are the other patients for whom it’s mainly caused by secondary causes in addition to environmental and lifestyle factors such as diet and exercise,” he says.
Dr Mirzaee, who runs a cholesterol clinic at MondashHeart in Melbourne, Victoria, says he practices evidence-based medicine in conjunction with multidisciplinary approach for screening and management of Hypercholesterolemia.
“My recommendation overall is to always test high risk cardiovascular patients to see if their cholesterol is high. Concerning FH, patients can be tested for the gene as well but this is not covered by Medicare. But as I’ve said, you can diagnose phenotypical FH by physical examination, their family history and a simple cholesterol test, so it’s not completely necessary to do the gene test,” he adds.
Diagnosing the type of Hypercholesterolemia is imperative
“To diagnose this disease with a holistic approach, you need to get a detailed family history from the patient. If they have Familial Hypercholesterolemia, they usually have a first degree relatives who’s had a heart attack or a stroke at a very young age,” he says.
“The second key information is a physical examination along with some biochemistry tests. When you put all of this together, you get a score. According to the score the patient reaches, then you can see if they have a likelihood of familial high cholesterol or it’s more from secondary causes,” he adds.
Dr Mirzaee says the diagnosis of which type of Hypercholesterolemia a patient has makes a great deal of difference: “If you have the genetic type, this means you can pass it on to the next generation. If a patient comes up with the familial type of cholesterol and they have kids, then the kids all need to be screened,” he says.
Case studies will show the different treatments
Dr Mirzaee says there is a completely different prognosis for the two types of patients: “For the patient who has high cholesterol mainly from their lifestyle and diet, as long as you identify the causes correctly and start treating them, within three to six months the patient’s cholesterol will go back to normal,” he says.
“For the patients with the familial high cholesterol or FH, they’ve already had high cholesterol for a long time, by the time you find out. They could have some atheroma formed somewhere in their arterial system and this is why this group has a different prognosis. If they’re older, they may have already had a heart attack or a stroke prior to the diagnosis. They are often the normal weight for their size – not overweight. If we can identify this group as early as possible – preferably during childhood – then we can start treatment and get their prognosis back to that of the normal population,” he adds.
Dr Mirzaee says this is the emphasis of his workshop – that these patients need treatment: “They can’t just rely on diet and exercise because they’re genetically predisposed so they should get the proper pharmacological treatment,” he adds.
Patients should go on statin tablets or combined lipid lowering therapy
He says for treatment, he starts patients with Familial Hypercholesterolemia on statin tablets and if this is not sufficient to get their cholesterol down, they move on to combined therapy including injections. He says in extreme cases where injections are not working, apheresis can be used to remove cholesterol at a dialysis centre in hospital.
You can see Dr Sam Mirzaee presenting the Pre-conference Workshop on Friday May 24th from 1.30 – 4.00pm titled: Genetic Cardiometabolic Lipid Disorders: Special Focus on Familial Hypercholesterolemia. Bookings are required for the Workshop and it’s all part of the ACNEM Conference called Evolving Landscapes of Nutrition in Medicine in Melbourne from May 24 – 26th.
Dr Sam Mirzaee is a consultant cardiologist, a clinical lipidologist and PhD research fellow at MonashHeart. He completed his basic physician training at Eastern Health in Melbourne, prior to advancing his interest in medical research by undertaking a research fellow position at Barwon Health with a concurrent postgraduate Masters at Monash University in 2012.
Dr Mirzaee completed his advanced training in cardiology at The Prince Charles Hospital in Brisbane and subsequently joined MonashHeart in 2016. He has participated in a number of international multi-centre clinical trials and presented his work at several international and national meetings.
He has a particular interest in the assessment of complex lipid disorders associated with premature cardiovascular disease and cardiac arrhythmia. He has introduced a unique model of care for the management of complex lipid disorders, integrating tertiary and primary care. As well, he leads MonashHeart’s multidisciplinary advanced lipid disorder clinic based at MonashHeart Dandenong.