Familial Hypercholesterolemia Cascade: On the Road to Universal Screening

Abstract

Background/Synopsis

The Atlantic Medical Group Lipid Workgroup at Atlantic Health System is composed of both adult and pediatric cardiologists, internists, endocrinologists and nephrologists. The goal of the workgroup is to address the need for optimal cardiometabolic diagnosis and treatment. Because familial hypercholesterolemia (FH) is dominantly inherited, cascade screening of family members can be highly effective.

Objective/Purpose

To highlight the benefits of collaboration of adult and pediatric specialties for the diagnosis and treatment of FH.

Methods

38-year-old female with a strong family history of early CAD, very high cholesterol levels and xanthelasmas presented to us to establish care. Her two children were diagnosed genetically with FH at age 3 and 6 with cholesterol levels of 269 mg/dL and > 400 mg/dL, respectively. She was initiated on treatment with a statin. Her twin sister was also evaluated and found to have high cholesterol levels and xanthelasmas. This sister's children were also suspected of having FH and were referred to a pediatric cardiologist for diagnosis and treatment.

Results

The children of the index patient were found to be heterozygous for deletion (exon17-18) LDLR gene, pathologic for FH.

Conclusions

The collaborative efforts of adult and pediatric specialists make the Atlantic Medical Group Lipid workgroup unique. Through this program, cascade and reverse cascade screening is utilized to identify and diagnose individuals at risk for familial hypercholesterolemia. Identification of an index patient with FH with effective screening of relatives combines the benefits of universal and cascade screening and has the potential of detecting all living cases of FH. Basseling et al found that although capable of identifying asymptomatic individuals with hypercholesterolemia, the cost effectiveness of universal screening has not yet been determined and cascade screening has proven to be more cost effective than any other screening strategy currently available thus far.