Improving Care for Inherited Cholesterol Disorders

A Genetic Disorder Requiring Early Diagnosis

Thanks to funding support from a Wisconsin Partnership Program Opportunity Grant, Dr. Peterson will lead the Wisconsin Pediatric Lipid Consortium, a partnership between UW Health, Dean Health Systems, Gundersen Health System (La Crosse), Aspirus (Wausau), Mobile Health Team (Fox Valley) and Aurora Health Care (Milwaukee).

The organizations will develop a shared database to determine the current statewide patterns for diagnosing and treating children with FH, an inherited cholesterol disorder that affects approximately 1 in 250 people.

Dr. Peterson says that parents with the genetic mutation that causes FH have a 50 percent chance of passing the disorder on to their child. From birth, children with FH have elevated LDL cholesterol levels that can’t be lowered through diet; medication is the standard treatment.

Although as many as 6,500 children in Wisconsin have FH, many providers fail to identify it. Reasons include a lack of familiarity with recent guidelines from the National Heart, Lung and Blood Institute recommending universal screening of all children for lipid disorders; conflicting recommendations from national organizations; and a general discomfort with diagnosing and treating such disorders in children.

But early diagnosis is critical: left untreated, 50 percent of men and 25 percent of women with FH will have a heart attack or stroke before age 50.

Data Supports Education, QI and Future Research

Using the data collected from each institution, the consortium will create targeted educational tools to raise providers’ awareness about lipid screening, FH diagnosis and treatment options. These may include a multimedia campaign, an informational website, in-person presentations and printed literature at medical conferences.

The consortium will also use the data for quality improvement projects that aim to increase the number of children diagnosed with FH and improve provider compliance with current treatment guidelines.

In addition, it will measure the effectiveness of cascade screening: the process by which the family members of a child with FH are also screened for the disorder.

Over the long term, Dr. Peterson hopes that WPLC data ultimately can be used in longitudinal studies evaluating whether early FH diagnosis and treatment prevents future cardiovascular events.

Raising the Standard of Care

For Dr. Peterson, this project represents an opportunity to make a lasting impact on health outcomes in Wisconsin. It promotes future research collaborations and disseminates medical best practices statewide, but most important, it aims to raise the standard of care for children with FH across Wisconsin.

“We want to work with medical organizations and providers across the state to raise awareness of familial hypercholesterolemia and other genetic cholesterol conditions, so that children are screened, can get appropriate treatment and not have premature cardiovascular disease,” she said.

Statewide Wisconsin Pediatric Lipid Consortium Partners:

  • UW Health
  • Dean Health Systems
  • Gundersen Health System
  • Aspirus
  • Mobile Health Team
  • Aurora Health Care