Dr Brinton provides insights regarding prognosis for patients with HoFH.
Eliot Brinton, MD: There’s a huge impact in terms of cardiovascular disease with FH [familial hypercholesterolemia] in general and with homozygous FH [HoFH] in particular. That’s the story behind homozygous FH. In simple, garden-variety hypercholesterolemia, individuals will get their heart attack or stroke at age 50, 60, 70, 80, or something like that. But if they have heterozygous FH, then they’re going to get it maybe as early as in their 30s, 40s, or 50s—possibly not until they’re 60. If someone has homozygous FH, then they can have severe cardiovascular outcomes—including heart attack and stroke—in adolescence and even childhood. There are children who have heart attacks at age 5 or 10. This is very tragic. For homozygous FH, we don’t have the relaxed atmosphere that we tend to have for the treatment of lipid disorders. We need to make the diagnosis as early as possible and treat as early as possible.
How do you know if a young child has homozygous FH? The best answer is to look at the skin. They’ll have little yellow bumps on the skin—between their fingers, on the backs of their knees, on their feet—in places where individuals don’t normally have cholesterol-rich xanthomas. These are soft, but they tend to be yellow and quite noticeable. The diagnosis is often made by the pediatrician or the dermatologist, looking at these funny little yellow bumps.
Then you do a lipid panel, and your LDL [low-density lipoprotein] is 500, 800, 1000 mg/dL, which is very high and maybe even off the range of what the lab can measure. Total cholesterol LDL and non–HDL [high-density lipoprotein] are all very high. LDL is generally around 350, 400 mg/dL at a minimum. That’s much higher than you’ll see in a routine setting, and you’re seeing this in a very young child.
Transcript edited for clarity.