Familial Hypercholesterolemia - Genetic High Cholesterol - Webinar - Ambry Genetics

Explore the world of Familial Hypercholesterolemia (FH) in this comprehensive webinar. Delve into clinical signs and symptoms, diagnostic criteria, genetics, and genetic testing for this inherited condition characterized by high cholesterol levels. Learn about treatment options, available resources, and relevant events. Gain insights into the study populations, countries affected, and the differences between homozygous and heterozygous FH. Understand the cholesterol distribution, AHA scientific statements, and the pathophysiology of FH. Discover the genes associated with FH, LDL mutations, and genetic testing guidelines. Examine the clinical and mutation overlap, public health implications, and the importance of cascade testing. Review screening recommendations for children and adults, cost-effective tools, and treatment options, including LDL cholesterol burden management and non-invasive imaging. Explore consultation with lipid specialists, medications like Kynamro and PCSK9 inhibitors, and additional resources to enhance your understanding of this genetic disorder.

Introduction
What is FH
Study
Populations
Countries
Homozygous FH
Diagnostic Criteria
Cholesterol Distribution
AHA Scientific Statement
Genetics of FH
pathophysiology of FH
genes associated with FH
LDL mutations
Genetic testing
Genetic testing guidelines
Clinical and mutation overlap
Public health lens
Cascade testing for FH
Screening recommendations for children
Screening after diagnosis
Costeffective
Tools
Treatment
LDL Cholesterol Burden
Noninvasive Imaging
Consultation with Lipid Specialist
Kynamro
Christian Jacobs
PCSK9 Inhibitors
Additional Resources
Conclusion