Dr Brinton provides an overview of guideline-directed therapies in HoFH.
Eliot Brinton, MD: We always want to know- what do the guidelines say? How should we approach these patients in terms of diagnosis and treatment? And there are a lot of guidelines for hypercholesterolemia, there are quite a few guidelines for heterozygous FH [familial hypercholesterolemia; HoFA], and there really are only 2 publications that have guidance for homozygous FH. It’s a little surprising, but this again is a very rare disorder, so we’re not talking about a large number of patients. And the 1 that is the most specific, there was a guideline specifically targeted [HoFA]. It’s a consensus paper for the European Atherosclerosis Society, published in their main journal, which is the European Heart Journal, in 2014. Marina Cuchel MD, PhD, is the first of many authors. It’s really excellent guidance. And then shortly thereafter, the American Heart Association came out with a guideline that is actually for FH in general. But there’s a nice carve out for [HoFA]. It’s I guess the American answer to the European guidelines. And they’re very similar. There really isn’t a whole lot of dispute or difference. But it is nice to have both- not only the European perspective but also the American perspective on the same subject. Samuel S. Gidding MD, was the first author and this is his circulation in 2015. That’s the sum total of the guidance, and it’s fairly brief, but it’s to the point. It really makes the points that I’ve talked about; You want to look for severe hypercholesterolemia, but generally, you’re going to look for these cutaneous xanthomas and a fairly characteristic distribution for [HoFA]. And not that any given physician has likely had much experience in looking at these, but if you see a small number of yellow bumps in a place that you don’t think you should see these yellow bumps. They don’t itch, they don’t hurt, they’re not rough, and patients are not prone to scratch them. They’re kind of unique in that way I guess and very characteristic. Then you’ve got to do a lipid panel. And of course, we don’t routinely do lipid panels on young children. As a recommendation, we should do it somewhere between ages 9 and 11. But doing lipid panels in children is great, and adolescents is great. But please make sure that we’re doing those whenever we see anything that looks possibly suspicious for [HoFA]. There is the classic tendonxanthoma in the Achilles tendon. That is a very strong indicator for [HoFA]. It does occur in homozygous FH, but it takes a few years to develop. It usually comes long after these cutaneous xanthomas. The tendonxanthomas are good to look for in somebody you’re thinking may have or does have [HoFA], but it’s more commonly occurring in the [HoFA] patient and then quite a bit older, usually not until middle age. Those are the most important parts of the diagnosis. And then the treatment is very aggressive as soon as you can. You don’t say let’s wait 5 years and see what happens to your cholesterol level. No, we don’t do that. If the clinician feels comfortable in treating [HoFA], they should go right ahead. And if they don’t, they should refer as soon as possible to a lipid expert, whether board certified or not.
Transcript edited for clarity.