The Importance of Rare Disease Awareness Among Physicians

James J. Maciejko, MS, PhD, FACC, reiterates the importance of rare disease awareness among physicians for proper diagnosis and treatment. While at the NLA’s 2018 Scientific Sessions in Las Vegas, Nevada, he stressed the importance of rare disease awareness among physicians in order to make the proper diagnosis and give the necessary (often live-saving) treatment, using the case of 4 brothers he diagnosed and treated with lysosomal acid lipase deficiency.

Maciejko: I think when we think about rare diseases, in general, sometimes there’s a lack of awareness. For example, the rare disease that I’m most familiar with is lysosomal acid lipase deficiency. Only about 135 cases have been reported worldwide, and a couple years ago, I was referred 4 brothers with marked hyperlipidemia, hepatomegaly, and liver enzyme elevation that was unexplained.

After evaluating these children and their parents, I recalled from a number of years ago, when I was a fellow at the Mayo Clinic, reading about lysosomal acid lipase deficiency. At that time, it was called cholesterol ester storage disease, and we made the diagnosis. It’s a life-threatening disease, and thankfully, we made it at a time when there was treatment.

There was an experimental enzyme replacement, which replaces the enzyme missing in this raredisease, because of the mutations in the genes that preclude normal production of this lysosomal enzyme. So now the experimental agent is commercially available and the 4 patients of ours have been on it for 2 and a half years, and they’re doing quite well, and thank god, because it essentially saved their lives.

I think when we talk about rare diseases, sometimes the biggest issue is the lack of awareness. That’s what I’ve experienced. The number of physicians that have ever heard of lysosomal acid lipase deficiency is probably less than one-tenth of one percent. I think it’s incumbent upon the various medical organizations to increase awareness of these rare diseases because many of them are life threatening, and as technology and treatments advance, it becomes incumbent for us to understand these diseases and be able to diagnose them. Then, if treatment is available, institute (many times) lifesaving treatment.

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