Recently, the American College of Medical Genetics and Genomics released new guidelines in support of lifelong treatment for PKU. Among other recommendations, the organization also suggested the name of the disease be changed from PKU, short for phenylketonuria, to phenylalanine hydroxylase deficiency, or PAH deficiency.
The ACMG acknowledges that there are several ways to describe PKU severity and specifically calls-out at least two naming conventions that are commonly used:
- PKU, the more severe diagnosis where untreated patients have blood phe levels greater than 1,200 μmol/l or 20 mg/dl and,
- hyperphenylalaninemia, which represents a milder diagnosis where untreated patients are still above what’s considered normal but less than 1,200 μmol/l or 20 mg/dl.
After the National Institutes of Health introduced the term hyperphenylalaninemia in 2000, we started seeing an increasing number of clinicians, patients and families of patients refer to the first, more severe category as classical PKU. The new name PAH deficiency, the ACMG proposes, would eliminate the practice of using the blood phe level as the standard of classification by representing all of these variations.
The communications and marketing professional in me knows that over the life of a product or business, there may be many reasons the decision is made to change a brand name including mergers/acquisitions, changing markets, new leadership, and to even eliminate a negative reputation.
In the case of PKU and the ACMG’s recommended name change, the decision was made because PAH deficiency more accurately describes what the authors refer to as the “spectrum of severity.” But, it’s worth noting that descriptive names can also have their own subset of issues. Brand names that are too literal can become forgetful or inaccurate over time. Names that are too complex or long can impact a person’s ability to pronounce or remember it.
What’s more, we also know that the use of medical jargon can make it difficult for individuals to absorb and process health-related information. So what will the impact be when folks within the PKU community try to make the transition to phenylalanine hydroxylase deficiency? When phenylketonuria was introduced into the vernacular in 1934, it likely created its own source of confusion in the patient community. Yet, there is something to be said for brand recognition. Overtime, the brand familiarity of PKU has become stronger within the community and it’s likely that many PKU patients have a strong association with the term PKU, and to some extent, identify themselves with the now-outdated term.
It will take time for PAH deficiency to be wholly embraced. Even I have started to wonder, “What does this name change do to the title of my blog?” I’m not quite ready to makeover PKU Parlor, but I can acknowledge that with the name change there could be some benefits. For example, wrapping-up the varying levels of PKU severity under one umbrella may go a long way for securing universal medical food and formula coverage. Lawmakers and other decision makers will be less inclined to offer coverage to a severe group of PKU patients while simultaneously denying or restricting access to those with milder cases.
So as a member of the PKU PAH deficiency community, how do you feel about the name change? Are you reluctant to make the transition? Or do you embrace the new name and find yourself excited for the fresh start? I’d like to hear from you and what your reaction was to the suggested name change. Also, if you ever thought of alternative names for PKU, be sure to share them in the comments field below.