One More Reason To Donate Blood: Can Detect Life-threatening Genetic Cholesterol Condition

Now, there is one more reason to donate blood as it can help detect life-threatening genetic cholesterol condition. The researchers have found that blood donation programs give an opportunity to public health portals to screen for diseases such as familial hypercholesterolemia (FH).

Familial hypercholesterolemia is a genetic condition that causes extremely high levels of cholesterol at an early age. When one person is diagnosed, other family members can be identified. However, only an estimated 10 per cent of those with FH are diagnosed, leaving many others at risk.

"For someone with FH, the risk of heart disease is higher because their clock started early. They've been bathed in high cholesterol since birth. At the same time, they may not know their kids are at risk. Sometimes by identifying one patient with FH, we find as many as eight or 10 more family members who are at risk," said preventive cardiologist Dr Amit Khera, Principal Investigator for the study.

"The blood donor screening program could be a novel strategy to detect and notify people with potential FH, particularly younger people in whom early detection and treatment is especially impactful, as well as to guide screening of family members," said Dr Khera.

According to the study published in JAMA Cardiology, if children are suspected to have the disease FH based upon their family history, then testing for FH begins at age 2. The standard treatment is diet and exercise, followed by the addition of statins in later childhood.

People who are at risk must first be identified in order to receive treatment. Dr Khera decided to try examining blood donation records to find people who appear to have FH but are less likely to see a doctor or receive statins.

"Blood donors are young, healthy, and may have less necessity to see doctors regularly," Dr Khera added.

Dr Khera's team worked closely with Carter BloodCare in Dallas to review 1,178,102 individual blood donation records. They found 3,473 people who met criteria for FH based on their cholesterol levels, similar to the estimated prevalence in the general population. It was more common in blood donors under the age of 30, and for men versus women. There was no significant difference by race except for Asian donors who had a slightly higher prevalence.

Anyone with a cholesterol level higher than 200 should see a physician for review of their family history, a full cholesterol panel (blood test), and a physical exam. The exam can identify the disease through visible signs such as cholesterol deposits in tendons, called xanthomas.