Top Things to Know: The Agenda for Familial Hypercholesterolemia
Published: October 28, 2015
- Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated autosomal dominant genetic disease present in all racial and ethnic groups worldwide.
- FH presents unique challenges for patients, families, and healthcare providers requiring a multidisciplinary medical team that includes physicians, nurses, genetic counselors, pharmacists, and dietitians for care.
- A genetic cause related to LDL receptor function can be identified in most people with FH.
- An ICD-10 diagnostic code is needed for FH to distinguish those with severe genetic dyslipidemia from those with dyslipidemia secondary to diet or genetic causes related to a large burden of smaller effect size genes.
- The writing group proposes a diagnostic schema that allows FH diagnosis based solely on clinical criteria or combined clinical and genetic information.
- The severity of FH is related to the degree and duration of exposure to plasma LDL-C levels.
- Cascade screening after identification of index cases should be performed to identify all affected family members. Universal screening is another potential strategy for case identification, particularly in childhood when discrimination of those with and without FH based on the combination of LDL-C levels and family history alone is most effective.
- FH treatment should follow recently published FH-specific international and national guidelines and be consistent with evidence-based guidelines for the general population.
- FH-specific outcomes research that includes assessments of safety, treatment goals, and role of subclinical atherosclerosis imaging in predicting outcomes is urgently needed.
- Country-specific models of care for FH are required to increase FH awareness and recognition.
Citation
Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW, McCrindle B, Raal F, Rader D, Santos RD, Lopes-Virella M, Watts GF, Wierzbicki AS; on behalf of the American Heart Association Atherosclerosis, Hypertension, and Obesity in the Young Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association [published online ahead of print October 28, 2015]. Circulation. doi: 10.1161/CIR.0000000000000297.