2018 Scientific Sessions: Update on Familial Hypercholesterolemia from a Global Perspective

Last Updated: Monday, 30-Apr-2018 13:45:00 EDT

Update on Familial Hypercholesterolemia from a Global Perspective

South America Perspectives on Familial Hypercholesterolemia
Alberto J. Lorenzatti, MD
Co-Director, Medical Institute DAMIC
Rusculleda Foundation
Córdoba, Argentina

In this presentation, Alberto Lorenzatti, MD, gave the audience a look at familial hypercholestolemia from the South American perspective.

With South American countries sharing common gaps in FH diagnosis and care, the big challenge is to increase the identification and treatment of affected individuals to reduce the cardiovascular disease burden caused by FH in the region. Molecular testing in uncommon and only performed in reference centers, and no standardized genetic testing procedures exist.

Standard lipid-lowering medications such as statins are widely available, but access is not universal. New therapies, including PCSK9 inhibitors, are now marketed in most countries, but the access for the majority of affected individuals is not an option due to their cost.

There has recently been an increased effort from scientific societies and disease networks to promote knowledge, education and awareness about FH, thereby making the early identification and treatment of FH in affected individuals in the region an increasingly real possibility.


Familial Hypercholesterolemia: The European Experience              
Anthony S. Wierzbicki, DM, DPhil, FRCPath
Department of Metabolic Medicine
Chemical Pathology
Guy’s and St. Thomas’ Hospital
London, United Kingdom

In this presentation, Anthony Wierzbicki, DM, DPhil, FRCPath, gave an update on current identification and treatment of familial hypercholesterolemia in Europe.

Currently, epidemiology of FH has been well established, and there are successful screening programs. Genetic diagnosis has been established, and there is good treatment availability, as well as strong patient organizations.

In the future, it is expected the use of imaging will increase and there will be a roll-out of successful strategies across other countries. There is also expected to be a devolution of care from specialist centers. The new approaches to design of care may simplify FH management.

Update from North America on Familial Hypercholesterolemia
Christie M. Ballantyne, MD, FNLA
Professor of Medicine
Chief, Section of Cardiovascular Research
Director, Center for Cardiovascular Disease Prevention
Baylor College of Medicine
Houston, TX

Familial hypercholesterolemia in the United States is a common disorder with frequency of 1 in 250. In this presentation, Christie Ballantyne, MD, FNLA, shared FH diagnostic criteria recommended by the AHA, the current status of treatment, gaps in therapy and practical steps to help patients.

Dr. Ballantyne shared that although diagnosis and therapy is improving, even in specialized lipid clinics, there are major gaps – treatment is begun later in life and achieved LDL-C remains high, especially in women and minorities.

He also asserted that genetic testing is useful, especially for cascade screening, but diagnosis can be made with very simple clinical criteria based upon family history and lipid levels.

The take home messages from the presentation included:

  • Document the diagnosis, which can be done simply by family history and an LDL-C level, and use the ICD10 codes (E78.01: Familial hypercholesterolemia; Z83.42: Family history of familial hypercholesterolemia)
  • Make sure that family members are screened when you identify a patient with FH
  • Start treatment early in life; do not wait until “adult” years

Combination therapy is  usually needed in older adults, and patients need education and help in making choices and dealing with prior authorization process