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Early Detection of Genetic Disorder Causing High Cholesterol is Life Saving

CardioSmart News

Recognizing the signs of a genetic disorder called familial hypercholesterolemia could be life-saving, according to a paper recently published in the European Heart Journal.

Familiar hypercholesterolemia (FH) is a common genetic disorder that causes dangerously high levels of LDL or “bad” cholesterol, beginning at birth. Passed down through families, FH leads to the premature development of heart disease and can take years, even decades, off one’s life. The good news is that with early detection and treatment, individuals with FH can live healthy, long lives.

As experts explain, FH is wildly underdiagnosed. It’s estimated that 35 million individuals worldwide currently have this condition, one-quarter of whom are children or teens. However, FH is often overlooked, as it usually doesn’t cause symptoms until later in life.

In their most recent paper, authors highlighted the need for increased awareness of FH. Children or any individuals with a close relative that developed heart disease early in life should talk with their doctor about FH. With a simple review of family history, doctors can determine whether a patient is at risk for FH and should undergo further testing. With blood tests and genetic testing, doctors can readily diagnose FH and provide treatment options to prevent complications. In fact, simple lifestyle changes and medications can go a long way in helping patients with FH live normal, healthy lives.

However, the key is identifying patients with a family history of premature heart disease. It’s important that doctors ask the right questions to identify patients at risk for FH as early in life as possible. Patients also need to become more aware of FH and whether they are at risk for this genetic condition. For example, if a child’s parent died of heart disease at the age of 30, patients or their parents should discuss family history with a doctor. It’s also important to recognize the telltale signs of FH, which include fatty skin deposits by the hands, elbows, knees, ankles and cholesterol deposits on the eyelids.

As authors explain, it’s never too early to discuss concerns about FH and family history of heart disease. The earlier doctors are able to diagnose patients with FH, the earlier they can provide effective treatments to promote better health and reduce risk of complications. With future research, experts hope to better understand FH and the best possible treatments to help patients affected by FH live long and healthy lives.

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