Siblings with Familial Hypercholesterolemia to Receive Treatment at New Clinic

According to a story from The Scarborough News, brother Connor and sister Kiera Pickering, aged eleven and twelve years respectively, will be some of the first patients to be treated at a new medical clinic established with the goal of preventing heart disease. This is because the have a genetic condition called familial hypercholesterolemia, which causes them to have an increased risk of heart and cardiovascular disease.

About Familial Hypercholesterolemia (FH)

Familial hypercholesterolemia is a condition of elevated, abnormally high levels of LDL cholesterol that is caused by a hereditary genetic mutation. The mutation that causes the condition affects the LDLR gene which normally codes for a protein that removes LDL from the bloodstream. The primary symptoms are elevated LDL cholesterol, deposits of cholesterol in certain areas of the body (eyelids, iris, and tendons of the arms and legs), and early onset cardiovascular issues, such as coronary artery disease, strokes, heart attack, and atherosclerosis. While once considered rare, it is likely that many people with the condition live undiagnosed. Treatment may include statins or other medications, liver transplant, or other surgical operations. The true prevalence of family hypercholesterolemia remains unknown. To learn more about familial hypercholesterolemia, click here.

Early Treatment is Important

The clinic has only recently made the decision to expand its services to include teens and children. This is important because children with this condition can experience plaque accumulation in their arteries early in life. With this factor in mind, beginning treatment in childhood is critical. The FH service, which operates the clinic, hopes to begin testing all children who are at least ten years old and have a patient with familial hypercholesterolemia.

Unfortunately, the majority of patients in the UK (and probably around the world) remain undiagnosed, but statin treatment can make a big difference for children affected by the condition. Only around 600 children in the UK have officially been diagnosed despite the widespread availability of testing. There are likely tens of thousands more that have the condition and don’t realize it.

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