Available Treatment Options for von Hippel-Lindau Disease

CURE spoke with Stacy Lloyd, board member of the VHL Alliance, about the treatment options for patients with VHL.

Kristie L. Kahl: What are the current treatment options for VHL-mutated tumors?

Stacy Lloyd: While we currently know a lot more, probably more than ever before about VHL, there are still no FDA approved pharmaceutical treatments for VHL-related tumors. So this means that surgical resection remains the best practice for treating VHL tumors.

Kristie L. Kahl: Wven though the cancer types might be different, are the treatments, like surgery, the same across the board?

Stacy Lloyd: Actually, not always. So VHL can cause tumors, like I mentioned, in 10 different organs, including brains, retinas, inner ears, adrenals, kidneys, pancreas, liver, lungs and reproductive organs. So the pathology of each of those tumors can look different depending on the organ where it develops.

And so that means the clinical protocol can vary. Treatment approach can vary across the different VHL tumors themselves, as well as can also be different for VHL patients versus the general public that may be impacted by a kidney tumor, for instance. So, for example, best practices for treating VHL-related spinal tumors is to monitor them until they cause symptoms, if they ever do. Some of them may not. So they just sit there.

I've actually had a few spine tumors myself for about 20-plus years at this point, and I haven't been impacted by them. But at any point that they do start to cause problems, that's when they would be evaluated for search for removal. On the other hand, best practices for treating VHL-related kidney tumors is to monitor them until the largest reaches 3 centimeters. And that's at the point where they would start to be thinking about surgical removal.

In non-VHL-related kidney tumors, or the renal cell carcinoma tumors that present in the general public, it's typically removed immediately. And a major reason for that difference in approach is that there are the usual kidney tumors that often present bilaterally. And so it's very important to do that organ-sparing surgery because we grow tumors over the course of a lifetime. And again, (malignancy in) both kidneys come more frequently than the general public. So we want to make sure that we're really not damaging most of the kidney or removing kidneys, because we really want to spare that and have patients be able to continue to have the use of those major organs over their lifetime as much as possible.

Kristie L. Kahl: Can you talk about any treatments that are under investigation right now?

Stacy Lloyd: There are no FDA-approved pharmaceutical treatments, but also no other non-surgical treatments really, other than just monitoring until they get to that point. Since researchers have discovered that systemic therapies may work to treat VHL, (but) will also likely have a major impact on tumors that are common in the general population like the RCC subtype. This has led to an increase in the quality and the quantity of research into VHL, which is great. And the Nobel Prize winner, again, a non-physician researcher on his work regarding VHL and kidney cancer has been really monumental and has accumulated in a number of clinical trials for these therapies to treat. One promising therapy, in particular, is (Welireg [belzutifan], and that was awarded fast track (designation) status (from the FDA) recently and has been submitted to the FDA for approval. So we are super hopeful that we'll continue to see these types of treatments being developed and made available to VHL patients and in the years to come.

Kristie L. Kahl: Why is it key to see a specialist in this area?

Stacy Lloyd: The VHL Alliance has a network of clinical care centers, which has been an amazing group of care team members, physicians that are dedicated to helping patients with VHL navigate this this disease, and they have all committed to providing the comprehensive care that's needed for VHL patients. Some of those are broader organizations, cancer centers, and you know, those physician teams are led by oncologist, but we actually also have physician champions that are in ophthalmology, because often these are found in the eyes very early, or endocrinology because they're presenting as female chromosomes on the adrenal gland. So we have a whole host of different specialists that are part of these clinical care centers and really work to give comprehensive care to patients when they need it.

It's also very ideal for patients to find physicians that are familiar with this disease for proper surveillance and treatment. It's not always possible. But as much as it is possible we really advocate for that. With that said, For those that it's not possible – and you know, we certainly have some geographical gaps in our clinical care center program as it exists today – it's also really important for patients to be informed and stay engaged in their own care so that they can advocate for themselves. If they have a care team that might not be quite as familiar with VHL as some of the ones that we have established at our clinical care centers.

Kristie L. Kahl: Since the VHL mutation can affect a variety of organs, why is the multidisciplinary approach to care also key when it comes to VHL?

Stacy Lloyd: We definitely have a team of specialists that monitor, manage and treat the potential manifestations throughout the body. For VHL patients, no one physician could treat the entire realm of tumors that we could possibly get in a lifetime. It's just not possible. So what's also really important about having that multidisciplinary approach and having that care team interact and communicate with each other is also it's important to coordinate care, especially if you have multiple manifestations at one time, but one might need to be treated while the others are kind of stable. So making sure that communication is happening across care team members, if someone's going into surgery, and making sure everything else remains stable is really important and keeping everyone in the loop so that they have the best quality outcomes possible.