2018 Scientific Sessions: Familial Hypercholesterolemia in Children

Last Updated: Friday, 27-Apr-2018 23:45:00 EDT

Familial Hypercholesterolemia in Children

Child-Parent Screening for Familial Hypercholesterolemia: Earlier Detection and Prevention
David Wald, MBBS, MD
Professor of Cardiology
Consultant Cardiologist
Wolfson Institute of Preventive Medicine
Queen Mary
University of London
London, England

One in 250 children inherit familial hypercholesterolemia from their parents. Preventive treatment has proven to be effective, however, the challenge has been identifying all FH individuals in the population.

In this presentation, David Wald, MBBS, MD, discussed child-parent FH screening as a method for earlier detection and prevention. The study’s aim was to measure cholesterol and FH mutations in 10,000 children and parents of FH positive children.

Children between 1 and 2 years of age had total cholesterol measured through a capillary blood sample from a heel-stick (60-second collection, 4-minute analysis) and simultaneous with immunization. It began in March 2012 and concluded in March 2015, with 10,095 children and parents (paired cholesterol and FH mutation results) – mean age 13 months and 52% male – participating in the study.

Dr. Wald summarized that child-parent FH screen is a practical method of population screening for inherited heart disease. Eight FH positives were identified (four children and four parents) per 1,000 children screened. He concluded that earlier detection provides an opportunity for prevention before the onset of disease.

When is the Right Time to Treat Children with FH?
Julie St Pierre, MD, PhD
Associate Professor of Pediatrics
McGill University
Clinic 180
Chicoutimi, Quebec, Canada

Pediatricians are well-positioned to evaluate the cardiovascular risk factors among their young patients to make a diagnosis of familial hypercholesterolemia and to perform familial screening. Identifying FH cases early in life could represent a cornerstone to prevent fatal cardiovascular events as an adult.

Since the treatment options for FH patients are more sophisticated and more available, time has come to better evaluate the right time to start a preventive treatment in FH children. In this presentation, Julie St Pierre, MD, PhD discussed recommendations for when to begin statin therapy in children with FH and conditions of those who are considered high-risk.

Dr. St Pierre pointed to the Charon Study, which included 197 HeFH patients aged 6-17 that were prescribed 5-20mg of Rosuvastatin over two years. It significantly reduced LDL-C compared with the baseline and was well-tolerated with no adverse effects on growth or sexual maturation, as well as no clinically important changes in hepatic biochemistry.

She asserted that the Kaplan-Meier curve of cardiovascular-free survival has shown that initiation of statin therapy in childhood may be effective in the prevention of very premature cardiovascular diseases and cardiovascular mortality.

Managing Pediatric Patients as an Adult Lipidologist
Ann M. Liebeskind, MD
Founder, Complex Lipids Clinic
Mobile Health Team
Neenah & Wauwautosa, WI

Many areas of the U.S. lack access to pediatric lipidologists, leaving adult providers to fill the gaps in care. Pediatric patients also become young adult patients who seek a smooth transition of care to adult providers for long term management of their lipid diagnoses. Legal, ethical, and psychosocial issues can be avoided with proper understanding and preparation. In this presentation, Dr. Liebeskind addressed issues unique to pediatric lipid care and reviews best practices, helping to optimize the care experience for children, their families and their healthcare team. 

Primordial prevention is possible, and statins have evidence of safety and efficacy in children (with age limits) and adolescents.

In order to treat children and adolescents in a lipid practice, it is important to know the guidelines and recommendations as well as knowing the scope of practice rules for your professional liability coverage, employer/healthcare system, hospital credentialing and geographical region. It is also crucial to be mindful of COPPA (Children’s Online Privacy Protection Rule), GIN Law (Genetic Information Nondiscrimination Act of 2008) and HIPAA.