Blood Donor Screening: A Novel Method of Identifying Familial Hypercholesterolemia

Blood donor screening programs offer a unique opportunity as a public health portal and novel strategy for the early diagnosis and intervention of familial hypercholesterolemia, according to a study published in JAMA Cardiology.

Currently in the US, there is no coordinated screening system in place to detect familial hypercholesterolemia. The investigators of this cohort study sought to explore the ability of a blood donor screening program to estimate the prevalence of familial hypercholesterolemia in a large database of volunteer donors.

The study population included 1,178,102 individuals, aged 16 years and older, who donated over a total of 3,038,420 times to Carter BloodCare between January 2002 and December 2016. Nonfasting serum cholesterol levels from deidentified routine donor health screening results were extracted from the Carter BloodCare database, which serves a population of 8 million people in Texas. Along with demographic information, total cholesterol was reported for each donation.

Familial hypercholesterolemia was classified according to Make Early Diagnosis to Prevent Early Deaths (MEDPED) general population criteria using specific thresholds for nonfasting serum cholesterol: 270 mg/dL for donors <20 years of age; 290 mg/dL for donors aged 20 to 29 years; 340 mg/dL for donors aged 30 to 39 years; and 360 mg/dL for donors ≥40 years of age. The maximum observed total cholesterol was analyzed for repeated donors (n=2219).

The donor population had a median age of 32 years (interquartile range [IQR], 19 to 47 years) and a median total cholesterol of 183 mg/dL (IQR, 157 to 212 mg/dL). Of the total sample, 3473 individuals met criteria for familial hypercholesterolemia, a prevalence of 1 in every 339 donors. In the group meeting familial hypercholesterolemia criteria, the median total cholesterol level was 332 mg/dL (IQR, 297 to 377 mg/dL).

Stratified by age, individuals <30 years old had a greater prevalence of familial hypercholesterolemia compared with individuals ≥30 years old (1 in every 257 vs 1 in every 469 donors; P <.001).

Familial hypercholesterolemia was also slightly more prevalent among men compared with women (1 in every 327 vs 1 in every 351 donors; P =.03). Among repeat donors meeting criteria for familial hypercholesterolemia, 3116 of a total 10,833 donations (28.8%) met MEDPED criteria, while the majority of repeated total cholesterol values were close to normal.

A limitation of the study was that only diagnostic measures aligned with MEDPED criteria were used, due to the fact that only total cholesterol levels were available. Lack of data regarding cholesterol medication, personal or family history, health insurance status, and access to care may have limited the determination of secondary causes of hypercholesterolemia.

Using MEDPED criteria, the investigators found that a familial hypercholesterolemia prevalence of 1 in every 339 donors in the study population was similar to the general population of 1 in every 250 individuals. They suggest that blood donation is a novel strategy to identify individuals with potential familial hypercholesterolemia, especially among younger donors.

Multiple authors declare affiliations within the pharmaceutical industry. Please refer to reference for a complete list of authors’ disclosures.

Reference

Jackson CL, Keeton JZ, Eason SJ, et al. Identifying familial hypercholesterolemia using a blood donor screening program with more than 1 million volunteer donors [published online May 22, 2019]. JAMA Cardiol. doi:10.1001/jamacardio.2019.1518