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Few Doctors Check for Common, Deadly Genetic Heart Condition

Thursday Sep 14, 2017

Many doctors don't assess their patients for familial hypercholesterolemia (FH), a common and treatable genetic condition that puts people at 20 times greater risk for early and aggressive heart disease, suggests a survey being presented at the National Society of Genetic Counselors (NSGC) 36th Annual Conference. 

The survey reflects a knowledge gap among primary care providers about FH and who is at risk, and underscores the benefit of a multidisciplinary team approach to care that includes genetic counselors. 

FH affects 1.2 million Americans, although fewer than 1 percent have been identified. The National Heart, Blood and Lung Institute and other groups recommend everyone is screened starting in childhood, which includes blood testing for cholesterol levels and asking about family history of heart disease.

According to results of a survey of 173 Minnesota primary care physicians presented at the NSGC conference, 30 percent said they do not screen their patients for FH. Respondents noted challenges incorporating family history data as an important barrier to screening for FH. There is also a gap in FH knowledge among primary care physicians, as only half of the respondents were aware that a patient who has a father, mother, brother or sister with FH also has a 50 percent chance of having FH as well.

Physicians should suspect FH in patients with significantly high cholesterol levels, and ask if there is a family history of high cholesterol and heart disease, said John Zimmerman, MS, Certified Genetic Counselor (CGC) at UT Southwestern Medical Center, Dallas, and author of the study. Patients with high cholesterol levels and a family history of heart disease may be given a diagnosis of FH.

Treatment includes cholesterol-lowering medication, such as a statin therapy, and lifestyle modifications, including exercising and maintaining a healthy diet and weight. Other treatments include medications to reduce cholesterol absorption and to increase the levels of good cholesterol.

"People with FH who don't receive treatment are at risk for having a potentially deadly heart attack as early as their 30s," Zimmerman said. "Genetic counselors should work with primary care physicians to educate them about the risk of FH and the screening process. Physicians should also educate their patients with FH about the importance of screening for their family members."

"This study and others being presented at the meeting reflect the expanding role of genetic counselors and the breadth and depth of their reach throughout a variety of healthcare specialties," said Mary Freivogel, MS, CGC, and president of the National Society of Genetic Counselors. "Research continues to demonstrate that genetic counselors help people better understand their circumstances, feel empowered about their health, and are more proactive about decreasing their own and their family members' risks for diseases."

NSGC is the leading voice, authority, and advocate for the genetic counseling profession, representing more than 3,600 health care professionals. The organization is committed to ensuring that the public has access to quality genetic services.

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