Could This Revised Genetic Test Improve Diagnostic Rates for Familial Hypercholesterolemia?

According to a story from Healio, a recent study suggests that the addition of four more genes to the conventional genetic test used to diagnosed familial hypercholesterolemia could allow more patients to be diagnosed. The change could be especially beneficial to African-Americans, whose condition may often be overlooked by the traditional screening method. Familial hypercholesterolemia is typically diagnosed using either clinical scoring systems or through genetic testing, but both of these systems have weaknesses that leave many patients living undiagnosed.

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 family hypercholesterolemia remains unknown. To learn more about familial hypercholesterolemia, click here.

The researchers looked at data from 100 patients, 97 percent of whom were black. These patients had not been diagnosed with the condition, but all had an LDL level of at least 190. The regular methods used for diagnosis are not well suited to this population because they were developed using data from patients that were mostly white. Black Americans are also less likely to know their family history, which can be critical diagnostic information. In addition, access to genetic testing is often limited due to concerns about cost and a deep level of distrust of the black community towards the health system.

Following a genetic test that screened for seven different genetic markers associated with the condition, a total of 12 patients tested positive for any one of them. This suggests that a number of patients would not have been diagnosed at all if a standard genetic test had been the primary method. Patients who tested positive were generally younger and had higher LDL levels.

The findings highlight a weakness of the health system that results from the lack of representation of black people and other historically marginalized ethnic groups in medical research. Clearly more research must be conducted with these groups to determine the best method for diagnosing familial hypercholesterolemia and other diseases in these populations.


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