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Familial hypercholesterolemia screening in blood donations may diagnose more patients
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Testing for the prevalence of familial hypercholesterolemia in patients who donated blood was similar to the estimated prevalence in the general population, according to a study published in JAMA Cardiology.
“Familial hypercholesterolemia is an important and relatively common (1 in every 250 individuals) genetic cholesterol disorder that is way underdiagnosed and undertreated and results in a significantly higher risk of coronary heart disease,” Amit Khera, MD, MSc, director of the preventive cardiology program, professor in the department of internal medicine and program director of the cardiology fellowship at UT Southwestern Medical Center, told Cardiology Today. “This study is proof of concept that the blood donor program can be a portal for public health and can be a novel and innovative way to diagnose and treat those with familial hypercholesterolemia, and eventually to get their family members screened.”
Blood donor data
Candace L. Jackson, MD, MPH, of UT Southwestern Medical Center, and colleagues analyzed data from 3,038,420 blood donations from 1,178,102 individual patients (median age, 32 years; 53% women; median total cholesterol level, 183 mg/dL) that were collected between 2002 and 2016.
The Make Early Diagnosis to Prevent Early Death criteria were used to classify familial hypercholesterolemia (FH). The total cholesterol threshold in patients younger than 20 years was 270 mg/dL, 290 mg/dL for those aged 20 to 29 years, 340 mg/dL in patients aged 30 to 39 years and 360 mg/dL for those aged at least 40 years.
The criteria for FH was met by 3,473 patients, or 1 in every 339 patients. This group of patients had a median total cholesterol of 332 mg/dL.
“Many patients don’t see doctors or access the medical system,” Khera said in an interview. “Blood donors are more commonly healthy and may be identified for FH in this different way, which would not have been captured in clinical practice.”
The estimated prevalence of FH was higher in men vs. women (1:327 vs. 1:351; P = .03) and in those younger than 30 years vs. those older than 30 years (1:257 vs. 1:469; P < .001).
Of the 63.9% of patients who donated blood more than once, 28.8% met the criteria for FH.
“We need to connect the dots between identifying those that potentially have FH and getting them to appropriate providers and specialists as well as having their family members screened is still areas where we need to study further,” Khera told Cardiology Today. “We need to better sort out best practices and logistics to accomplish these goals, as well as the most effective ways to communicate with blood donors and prospective patients.”
Improved approaches
“It is clear that we must improve our approach to screening and treatment for familial hypercholesterolemia,” Stephen R. Daniels, MD, PhD, chairman and professor in the department of pediatrics at University of Colorado School of Medicine in Aurora, wrote in a related editorial. “Given the increasing use of electronic health data, it is possible that data from blood donations and other settings, such as health screening, could be integrated into a broadly and more useable health record that could result in improved treatment for familial hypercholesterolemia. More work will be needed to establish such a comprehensive system.” – by Darlene Dobkowski
For more information:
Amit Khera, MD, MSc, can be reached at University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390; email: amit.khera@utsouthwestern.edu; Twitter: @dramitkhera.
Disclosures: Jackson, Khera and Daniels report no relevant financial disclosures. Please see the study for all other authors’ relevant financial disclosures.
Perspective
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Seth S. Martin, MD, MHS
This is an interesting, important and impressive study. FH remains underdiagnosed and undertreated. We need additional ways to find people with FH and to find them at earlier ages. This new approach to screening blood donors is a promising complement to existing strategies to find FH, and especially showed promise at finding FH in younger individuals.
If these individuals can be connected to the health care system and started on appropriate LDL lowering therapy, this will prevent CV events and can be life changing for these people and their families.
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