From the Winter 2017 issue of AtlanticView:
When it comes to heart disease and cholesterol levels, it pays to know your family history. One of the most common inherited disorders in the country – familial hypercholesterolemia (FH) – occurs in approximately one in 250 individuals. However, 90 percent of them have not been diagnosed or treated, leading to progressive coronary disease and premature heart attacks. Robert Fishberg, MD, a clinical cardiologist, has led research at Atlantic Health System that is focusing on changing that.
Dr. Fishberg is the local principal investigator in a national registry designed to identify and track individuals with FH over time. According to Christina Flora, clinical research coordinator, the registry looks at people across the country who have FH to see if they are being timely diagnosed. “Many people struggle for years with diet and exercise only to learn it is never going to work. They have lost a lot of years where they could have been treated," she says.
Dr. Fishberg explains that there are two types of FH: heterozygous FH, where the genetic mutation is inherited from one parent, and the rarer form, homozygous FH, where the genetic mutation is inherited from both parents. Next-generation DNA sequencing has made the precise diagnosis of this genetic abnormality a reality. Knowing the actual defect would allow screening of possibly affected relatives. “We don’t discuss family history as well as we should. If someone has FH, you should focus not only on them but on all their relatives.”
In addition, research by Dr. Fishberg focuses on a new class of medication, PCSK9 inhibitors that can lower low-density lipoprotein (“bad” cholesterol) up to 70 percent in combination with a statin. Two of these agents have recently been approved by the FDA for high-risk patients. “The PCSK9 inhibitors are one of the most important developments in cardiology over the last 20 years,” he says.
For more information about FH and FH research trials, contact Dr. Fishberg at 973-467-0005.