The FH Foundation announced today the launch of the FIND HoFH (homozygous familial hypercholesterolemia) program to improve diagnosis for the condition by identifying people at risk.
HoFH is more severe than FH and can cause heart disease, heart attacks, and aortic valve disease in kids and adults. The disease impacts 1 in 300,000 Americans who inherit two mutations in FH genes. The disease can be diagnosed using clinical assessments and through genetic testing.
Individuals identified as needing HoFH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from the telegenetics firm Genome Medical.