Familial hypercholesterolemia: Detect, treat, and ask about family

Abstract

Dr. Tang has disclosed serving as a consultant for MyoKardia and Sequana Medical.

Familial Hypercholesterolemia

“…Familial hypercholesterolemia often diagnosed using the following diagnostic criteria: UK Simon Broome System and the Dutch Lipid Clinic Network criteria [11][12][13][14][15][16][17].…”

“…The Dutch Lipid Clinic Network Criteria can be applied in adults. The items included in Dutch Lipid Clinic Network are the following: laboratory findings (LDL-C), physical examination (tendon xanthomas, arcus cornealis), molecular diagnosis (mutation LDLR, APOB or PCSK9), family history (atherosclerotic cardiovascular disease, tendon xanthomas, arcus cornealis, raised LDL-C), and patient history (coronary artery disease, cerebral or peripheral vascular disease) [11][12][13][14][15][16][17]. Dutch Lipid Clinic Network Criteria is attached in Table 3.…”

“…In the Simon Broome criteria, a positive genetic test is sufficient for a definitive diagnosis of familial hypercholesterolemia. In the Dutch Lipid Clinic Network criteria, a positive genetic test should be accompanied by an additional item (for example, elevated LDL-C levels) to fulfill the definite diagnosis criteria [11][12][13][14][15][16][17].…”

“…Once an individual is identified with familial hypercholesterolemia (index case) the cascade screening of family members of the known index case is recommend for identify new cases of familial hypercholesterolemia. Cascade screening could include LDL-C measurement, genetic testing, or both [11][12][13][14][15][16][17]30].…”

“…Furthermore, genetic testing could provide discrimination, at the molecular genetic level, between homozygous familial hypercholesterolemia and heterozygous familial hypercholesterolemia. Moreover, pre-test and post-test genetic counseling can facilitate patient's interpretation of genetic test results [11][12][13][14][15][16][17].…”