Everyone gets dealt their own hand of cards in the game of life. I inherited two different genetic disorders that each lead to atherosclerosis; a mutation that causes high Lipoprotein(a) and a mutation that causes high LDL Cholesterol (LDL-C) levels. This means that that from birth, high levels of fatty substances circulating constantly in my blood damage and clog the interior of my blood vessels, especially those feeding blood to my heart and my brain.
Although familial hypercholesterolemia (FH) and high Lipoprotein(a) (Lp(a)) can be easily diagnosed with a simple blood test and a family history, these life-threatening conditions are consistently missed by doctors in the United States. When someone is diagnosed it is usually after they have become ill with heart disease or suffered a stroke. That was the case for me. I had a heart attack when my oldest daughter was less than a year old. I was in my thirties, so when I called the paramedics with unbearable chest pain that literally stopped me from walking up a small flight of stairs, and told them about my life-time high cholesterol, I was patronizingly told that it was unlikely to be my heart because of my age and my gender.
However young adults - including women - who have undetected genetic conditions, do have heart attacks, strokes, and require surgery. This can even happen as early as childhood in those who have inherited FH from both parents (homozygous FH) and as young as their twenties, thirties, and forties in those who have inherited FH from one parent (heterozygous FH) or Lipoprotein(a) dysfunction.
In my case, the main artery through which blood feeds the heart (left descending artery), that selfless muscle that never stops beating so that the rest of my body can get the oxygen it needs to stay alive, had been entirely blocked. It only took 3 decades for the high Lp(a) and the high LDL-C to gunk up, inflame, and alter the function of my cardiovascular system. This isn’t new science. It has long been understood and proven that people born with these genetic conditions are as much as 20 times more likely to have a life-threatening medical event if they remain untreated or under-managed.
But, I did not know I had two genetic conditions that were damaging my cardiovascular system day after day, year after year. Over time, I had gotten used to the shortness of breath, the lethargy, and the chest pain when I hiked. I knew that some people in my family had had a stroke or a heart attack, but I had no idea how ill or in danger I was. The afternoon when the crushing chest pain began, I knew I was in trouble and so I called 911.
Before the stents and bypass to reopen the vessels were available, people either died quickly from a heart attack or slowly from heart failure (a damaged heart muscle deprived of the blood and oxygen it needs) or a life limited by the impact of a stroke. I was lucky to live in a time when a surgery could and did save my life.
The weeks following my surgery, I struggled to balance being a new mother with having heart disease. I guess, because I was young for a heart disease patient, they never sent me to cardiac rehabilitation (data show that women are also less likely to get sent to cardiac rehab). I sat for hours holding my daughter, relishing everything about her and the loveliness of the late summer light in our home in Southern California. Even though I was grateful to still be here for her, I felt vulnerable and restless without an explanation.
It took me two years to find a doctor who understood that I had inherited familial hypercholesterolemia and even longer to have my Lipoprotein(a) levels even tested. The most important part of that visit was when he told my husband and I that our daughter had a 50% chance of inheriting the same condition.
Although more people will develop disease and die from heart disease than any other illness, the general reaction to cardiovascular disease is pretty ho hum. Many doctors do not follow screening guidelines that recommend that every child, regardless of family history, should have their cholesterol tested to screen for FH between the ages of 9-11. That is one reason 8 out of 10 people with FH are never informed of their status as a high-risk individual and never treated appropriately.
When I was finally diagnosed and started receiving the right care, I was both relieved and disappointed in the medical system. My case had been very obvious, but no one recognized it. I remember having very small yellowish white bumps on my elbows and thick painful Achilles tendons that kept me from playing soccer back in high school. I now know this was because I had so much cholesterol circulating in my blood that it deposited and crystalized in my tendons. For most individuals however, the signs are hidden beneath the surface of the body in the interior of the cardiovascular system and found in the stories of their families who were lost early or had their lives change because of the disease. This is why childhood screening is so important!
I did not understand fully until years later that I actually had two different disorders – high Lipoprotein(a) and familial hypercholesterolemia. You get what you get when it comes to genetics. But I have never been one to allow the challenges I have faced to limit or define me. For the sake of my daughter and others like her, I set out to understand how this could have happened and what I might do to change it. What I discovered over the years leading up to me starting the FH Foundation, was that my story of missed diagnosis and poor care was almost everyone’s story in the United States and much of the world! 99% of people with FH in 2011 had never received a diagnosis. Most physicians were unfamiliar with the condition and thought it was rare, despite 1 in 250 people having it! In the case of Lipoprotein(a), it is hardly ever even tested, even though 1 in 5 people carry the genetic mutation!
I have dedicated almost every day since then to bring about substantive changes in how health systems identify individuals at risk, how they treat them, and how to make sure their family members get screened. We have an amazing team at the FH Foundation and a Board made up of people impacted by FH, Lp(a) or both, and leading clinicians and scientists who specialize in these inherited lipid disorders. If you want to learn more about familial hypercholesterolemia or Lipoprotein(a), visit the FH Foundation.
It is your life. Understanding your genetics and your risk for heart disease and stroke is important to living your life to the fullest and protecting your family. I hope my story is both a cautionary tale and a call to action to help you along your journey.