According to a story from brightsurf.com, familial hypercholesterolemia, a genetic condition that causes elevated levels of LDL cholesterol to appear at a young age, often goes undiagnosed. In fact, some studies estimate that only about ten percent of people with the condition have ever been diagnosed. However, there is a chance that records from blood donations could help improve the rate of diagnosis.
About Familial Hypercholesterolemia (FH)
Familial hypercholesterolemia is a condition of elevated, abnormally high levels of LDL cholesterol that is caused by a hereditary genetic mutation. The mutation that causes the condition affects the LDLR gene which normally codes for a protein that removes LDL from the bloodstream. The primary symptoms are elevated LDL cholesterol, deposits of cholesterol in certain areas of the body (eyelids, iris, and tendons of the arms and legs), and early onset cardiovascular issues, such as coronary artery disease, strokes, heart attack, and atherosclerosis. While once considered rare, it is likely that many people with the condition live undiagnosed. Treatment may include statins or other medications, liver transplant, or other surgical operations. The true prevalence of familial hypercholesterolemia remains unknown. To learn more about familial hypercholesterolemia, click here.
Using Blood Donations to Identify Patients
As a heritable condition, one diagnosis within a family can often lead to string of diagnoses. A recent study suggests that blood donation programs in the US present a unique opportunity to screen for familial hypercholesterolemia. The researchers combed through blood donation records in an attempt to identify possible patients that otherwise may have been overlooked. As the condition is present from birth, many younger donors may not be symptomatic and as a result do not visit a doctor on a regular basis.
After looking through more than a million records, the scientists were able to identify over 3,000 people that displayed characteristics that suggested familial hypercholesterolemia. The research team plans to reach out to the patients that they identified. A diagnosis was more common in donors under 30.
With these findings, the researchers concluded that data from blood donors could be a valuable approach to reaching familial hypercholesterolemia patients that otherwise may go for many years undiagnosed. Early treatment can be of significant benefit to this group of patients.
Check out the original study here.
