Only 1 in every 250 people have familial hypercholesterolemia (FH) worldwide and it is widely underdiagnosed with more than 90% of people not knowing they have it.
In fact, according to Global Genes’ Rare Daily, Jonathan Kara didn’t know he had the disease until one night when, at the age of 28, he woke up with a heavy sensation in his chest, his left arm was numb, and he was nauseous.
He called his mom who called a nurse who warned that it might be a heart attack. With her recommendation, he went to the hospital where tests showed that he had, in fact, suffered a heart attack at age 28.
It was then that he received his diagnosis of familial hypercholesterolemia.
FH is a genetic disorder that inhibits a person’s body from being able to remove low-density lipoprotein (LDL) cholesterol from the blood. This can cause high cholesterol and seriously raise the risk of heart attack and heart disease.
Shortly after Kara’s heart attack, testing showed that his cholesterol was above 300 (for reference, a normal number would be about 170). His LDL was even higher at 326 (about 200 points higher than an average healthy person).
Unlike the average person in which diet and exercise are a big factor in managing cholesterol, for someone with FH diet and exercise only affects 10-15% of their cholesterol. This means diet and exercise alone will not keep a person with FH at healthy levels and they will probably have to take medication such as statins to manage their condition. Statins reduce fat levels, like cholesterol, in the blood.
After Kara’s heart attack, he recovered and got married several years later. Shortly after, the couple added baby Max to their family. Their son was only one year old when doctors noticed an orange discoloration on his wrists and declared it xanthoma-which is caused by too much cholesterol underneath the skin. Tests concluded that Max’s cholesterol level was more than 800 and it gradually kept rising to be over 1,000 before Max reached the age of two years old.
Like Father Like Son
Max has inherited FH from both of his parents. However, he and his father are engaging in treatments that can help them manage their cases of FH. Max has weekly blood cleansing treatments. He misses one day of school a week and his mom has quit her office job to take him to his treatments. The superstar straight-A student has his blood run through a machine and it removes the “bad” LDL cholesterol. Directly after the treatment, Max says he will feel light and refreshed as his LDL cholesterol drops to 35, but by the end of the week, it is back at an unhealthy 200 in time for his next treatment.
Max and his father also manage their condition by eating a simple and low-fat diet that includes foods such as cereal, bananas, fresh smoothies, humus, pita bread, baked chicken and plain pasta. They both limit their red meat intake and stay lean and active.
Both Max and his father take statins to lower their bad cholesterol but the family also has their eyes on a new drug called PCSK9 inhibitor. This new drug was approved recently for adults, but Max’s doctor is pursuing it for pediatric use as well.
The Kara family is being showcased on a new WebMD video series. The father and son will tell their story to motivate people who have trouble with their cholesterol to get checked for FH. Kara states this their goal is to prevent heart disease. It is very important to be diagnosed early and they encourage everyone who is at risk to get the simple test done today to rule out FH. Those at risk include anyone who has a cholesterol over 170 and has a history of heart disease or high cholesterol in their family.
