New Research to Improve Screening for FH

New Research to Improve Screening for FH

A strategic imperative of the FH Foundation is to increase FH diagnosis and improve the rate of cascade screening. We began this work in 2013 with the establishment of the CASCADE FH Registry (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia Registry) and continue today. In addition to the progress we recently reported from the IMPACT FH study with Geisinger, we are proud to report the latest research published in the American Journal of Preventive Cardiology that highlights the potential to improve cascade screening by utilizing direct contact of relatives through the FH Foundation.

To date, the most successful cascade screening program for familial hypercholesterolemia (FH) ever conducted was in the Netherlands. During cascade screening, the relatives of an individual diagnosed with FH (called the proband) are contacted and systematically screened for FH. Rates of cascade, or family screening, are low in the U.S. with some estimating it at 10%. Most of the burden has fallen traditionally to the individual with FH outreaching and communicating with their relatives.

The FH Foundation, and our research partner, UT Southwestern, are actively exploring whether direct engagement with the probands and relatives outside usual healthcare settings will improve cascade screening and ultimately diagnosis. Together, we conducted a proof-of-concept study where the FH Foundation directly engaged with FH probands and relatives similar to the approach taken by the Dutch “Foundation for Tracing FH.”

A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model

"Cascade screening is key to identifying individuals with FH in the US, but so far few efforts have achieved any success," said Zahid Ahmad M.D., Associate Professor in the Division of Endocrinology at UT Southwestern Medical Center. “Our study, which places the FH Foundation as the central coordinator for family screening, begins to address this giant gap in the US. We plan to build on these findings with larger studies that will help establish a successful model for cascade screening in the US."

“Family screening is one of the greatest opportunities to accelerate diagnosis of familial hypercholesterolemia and other genetic lipid disorders,” added Katherine Wilemon. “Uncovering and then removing barriers to successful cascade screening in the U.S., is a critical focus of the FH Foundation. We believe our organization can play a centralized role to screen and connect family members to resources to improve care. This latest research is just one step that the FH Foundation is taking to solve this challenge.”

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