Dr Robert Hopkin Discusses Misconceptions in the Management of Fabry Disease

There are several misconceptions regarding Fabry disease, including inheritance, initiation of treatment, and its impact on women, said Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center.

Transcript

Can you discuss common misconceptions regarding Fabry disease and any potential for improvement in care?

There are a number of misconceptions. Even among the people who have Fabry disease, a lot of people have this idea that we treat disease when it becomes a problem. So, there are lots of people who say, "I will come in when the disease gets to the point that it's impacting my life in a way that I know needs intervention and then I will seek help."

That's just not an effective strategy at this time, because as I've mentioned, the damage is irreversible. When cells are damaged in Fabry disease they're replaced by fibroblasts or by fibrous tissue—not by functional kidney cells, heart cells, or neurons—which means the damage that has already been done is not going to get better, even if we have successful treatment after you've had damage done to your body.

So, one of the misconceptions is that you should wait until you absolutely need treatment. And interestingly, that sort0-of concept is incorporated in the treatment strategies promoted in some parts of the world where they say until you have clear, functional damage to your kidneys or heart, we don't want to treat you.

There are also misconceptions about inheritance. Fabry disease is an X-linked disorder, and there's still a lot of people who think, well, if it's an X-linked disorder, it shouldn't affect women or that most women will only have mild disease. But in fact, in the studies that have been done, where they specifically sought out women based usually on family history, who were obligated to have inherited a mutation in the gene, people who have changes in the gene that are associated with classical Fabry disease, the women in that group, about three-quarters of them will develop problems related to Fabry disease—and that isn't just mild discomfort.

It's progressive kidney disease, it's life-threatening heart disease, it's a multiple-fold increased risk in stroke. Women untreated lose about 15 years of life expectancy, and they have a significant detriment in quality of life. So, the idea that women are not really a priority in treatment is unsupported by the data and, in fact, is refuted by the studies that have been done.

There's still a lot of people who think that the treatment doesn't make a big difference, but I think that that is incorrect. The treatment prolongs life and can improve quality of life if it's done optimally.

So, misconceptions: One is that we can wait until the disease is advanced. I think we need to look for Fabry disease early in life and try to treat before people notice that there's a problem and prevent the disease from progressing or at least minimize the progression. And the misconceptions that women will often not have disease or not have severe disease are also important. Then the idea that the treatments don't make a difference, I mean they do make a difference. We need to do things about Fabry disease.