How important is early diagnosis for familial hypercholesterolemia in children?
This has huge family and therapeutic implications. If we diagnose familial hypercholesterolemia in children, we can cascade diagnosis. It is an autosomal dominant disease, which means the risk of a child having the disease is 50 percent, so if we diagnose the disease in a child, we will also diagnose it in one of the parents. If the age is, for example, 6 years old, we will recognize the disease before the age of 40 and be able to start treatment. And we have statins. PCSK9 inhibitors are now available. So with these we will prolong the life of the parent, because we know that if the disease is undiagnosed and untreated, about 50 percent of pat...
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