Considerations for authorization documentation in HoFH treatment are discussed.
Erin Michos, MD, MHS: Lipid apheresis is considered medically necessary in patients with homozygous familial hypercholesterolemia [HoFH] who remain with elevated LDL [low-density lipoprotein] after standard therapy, which they usually do still have elevated LDL despite standard therapy. So it’s important that you make sure you clearly have demonstrated that they in fact do have HoFH, which is why I recommend the genetic testing, so you can show the genetic testing as well as the clinical criteria, that they have atherosclerotic cardiovascular disease or valvular disease. In children, it can be a bit more challenging to demonstrate they have atherosclerotic cardiovascular disease. For example in adults, we could do a CT scan or CT angiography noninvasively to demonstrate that they have significant coronary atherosclerosis, but this would be more challenging in children because they have faster heart rates and smaller coronary artery size. They certainly could get an echocardiogram to look to see if they have aortic valve disease. But showing that they have the clinical diagnosis, if they haven’t already had an event, can be a bit more challenging, which is why having the genetic diagnosis with genetic testing can help with the paperwork and the appeal to get these important, life-saving therapies to these patients.
Seth Baum, MD: Documentation barriers are one of the issues that come up with regard to prior authorization or continued authorization of apheresis and other therapeutics. We do see patients who come to us after spending a decade or so on apheresis, for example, in another part of the country. We have to get the records, and the records aren’t always as complete as we would want because they go back so far. So, it is a real challenge. In our guidelines, when we stipulate, for example, in the American Heart Association guidelines, an LDL greater than 400 [mg/dL] or greater than 560 [mg/dL] in the absence of other findings to make the diagnosis, well the payers look at these numbers and hold us to them. The problem is that these numbers are imperfect.
If you look at some of the data we have from Barbara Sjouke [MD, PhD,] for example, from the Netherlands, she looked at a number of patients with genetically defined HoFH and found such a tremendous spread, such heterogeneity, that in one of her untreated patients with genetically documented HoFH, the untreated—not the treated, the untreated—LDL was 170 m/dL. That’s low enough that we wouldn’t even think of heterozygous FH, and yet the person had homozygous FH. So, we need to be more circumspect when we create our guidelines and allow some latitude for the phenotypic expression of homozygous FH and other things that is more varied than we allow in these guidelines. We often shoot ourselves in the foot when we create these guidelines, and we do it for good reasons, to help people make the diagnosis. But by doing this, the payers use them oftentimes to exclude patients who we know phenotypically have HoFH, but who just don’t meet these criteria, to exclude them from therapeutics they should be on.
Different payers do different things with regard to making the case for a therapeutic for HoFH. I personally have not experienced the requirement for a genetic diagnosis over a phenotypic diagnosis. But I do have colleagues and have heard from them that yes, some payers have required a genetic diagnosis, and the genetic diagnosis is not there. For example, you may identify 1 mutation in somebody who clinically has HoFH, and if you shared that with the payer, the payer might say, “No, sorry…[the patient] does not have a HoFH because the genetic test shows only 1 mutation.” It’s very challenging, and there are nuances. It should be, in my view, that if a clinician says, I think the patient has HoFH and has a good rationale, even if it doesn’t meet our guideline definition, it should be that payers accept that.
Transcript edited for clarity.
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