Today is Familial hypercholesterolemia, or FH, awareness day. FH is a hereditary disease that leads to early and aggressive heart-issues for the sufferer. Nearly 1 in 200-500 people in the United States have FH, but it is suspected that only 10% of cases are diagnosed. Currently, family history of early cardiac events and high-cholesterol are “enough” for a clinical diagnosis, but with so many cases undiagnosed, we can do better. Genomic testing is the only way to get a true diagnosis, and a more comprehensive genomic test can not only give an accurate diagnosis, but predict which medications will be most effective at treating the patient.
What is FH?
All of your bodies cells have the capability to produce cholesterol and/or triglycerides. These elements in the body are an essential part of how your body uses energy, but start to cause problems if they float freely in your blood. Normally, your cells package cholesterol into particles called “lipoproteins” in order to be sent to different areas in the body. These packages take different forms, and thus have different names, LDL and HDL being the most common. LDL-C particularly is recognized as “bad” cholesterol. People who have FH have mutations in their genes that causes a malfunction in their liver which prevents LDL-C from being broken down, which leads to a host of issues including narrowing of heart valves, heart attacks, and strokes.
Testing and Diagnosis
FH is a difficult disease to detect because there are usually no visible signs. The two main indications of FH are: family history of early cardiac episodes, and a high level of LDL-C in the blood stream. Rarely there are visible signs, such as when cholesterol deposits form at the knuckles, knees and elbows forming bumps called “xanthomas”. These deposits may not be visible, but are most often painful because the cholesterol gets deposited on the tendons.
Currently, LDL-C count and family history are all that’s needed for an FH diagnosis, but the method clearly isn’t catching all cases. 90% of cases are suspected to go undiagnosed in the United States. A genetic test is the only way to get a sure-fire diagnosis.
Luckily, FH is very treatable. If found early enough, there are many things one can do to delay or flat out prevent major cardiac issues. Generally leading an extremely healthy lifestyle are the best options. Not smoking, regular exercise, and a diet low in trans and saturated fats. In addition, a doctor will certainly prescribe cholesterol lowering medication. In advanced or particularly aggressive cases of FH, a simple procedure called LDL-apheresis is performed biweekly, which removes LDL-C from the blood.
“Early heart attacks” is defined as any cardiac event before age 55 in men, 65 for women. If your family has a history of such events, the American Academy of Pediatrics recommends regular blood tests for cholesterol starting as early as age 2. With that said, an FH diagnosis is important to find at any age so treatments can be put in place to start lowering risk for heart attack or stroke as soon as possible.
FH is not a rare disease, affecting over 14 million people worldwide. Without visible symptoms, many sufferers are building up cholesterol in their arteries, unaware that they are at an extremely high-risk for a heart attack as early as adolescents. This is why a comprehensive genomic test is so important. It is especially tragic when a disease like FH goes undiagnosed because effective and affordable treatment options exist. Catching the disease early is still the best chance at implementing these measures before any damage is done. A genomic test like the one provided by New Amsterdam Genomics guarantees an accurate diagnosis while the patient is still asymptomatic.
Get involved with the FH Foundation’s awareness campaign today.
(All statistics and figures from thefhfoundation.org)
If you or someone you know is concerned about your FH potential, please contact us at Inquiry@nagenomics.com to explore the possibility of testing and analysis.