Pompe disease is a progressive, neuromuscular disease. While patients may not show symptoms for many years (sometimes even decades), the disease is present and active at birth. Multiple trials have shown that treatment with enzyme replacement therapy (ERT) can significantly alter the natural history of Pompe disease in patients. In short, it saves lives.
However, studies have also shown that a critical component of a successful outcome with ERT is the initiation of treatment before irreversible damage has occurred. In an Editorial titled “Early is better? A new algorithim for early diagnosis in Late Onset Pompe Disease (LOPD),“ Drs. Antonio Toscano and Olimpia Musumeci stated: “In LOPD, the efficacy of ERT has been demonstrated but with less prominent efficacy when compared to the infantile cases. In fact, it has been shown that ERT may improve or stabilize motor performances and respiratory function in at least 2/3 of treated patients. Some studies reported that an early start of therapy may maximize ERT efficacy, suggesting that, in LOPD, an earlier diagnosis has to become the key point in patients’ management” (https://amda-pompe.org/wp-content/uploads/2020/06/Early_is_better.pdf).
The importance of early diagnosis is even more critical in Infantile-Onset patients. In fact, in “Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes,” the authors reported “we found that starting ERT even a few days earlier was associated with better biochemical responses and developmental outcomes” (https://amda-pompe.org/wp-content/uploads/2020/06/Very_Early_Treatment_for_Infantile-Onset_Pompe_Disease_Contributes_to_Better_Outcomes.pdf). The key to early initiation of treatment is early diagnosis. Without a diagnosis it is impossible to start treatment before irreversible damage has occurred. However, achieving an early diagnosis is complicated by the fact that symptoms of Pompe can occur at any age, and are often difficult to detect at first.
There are several ways that Pompe disease can be diagnosed. In many cases, after initial diagnosis by one method, confirmation by a second method is required.
For country/region specific information on who to contact regarding testing for Pompe disease, please check out the following links:
The first symptoms of Pompe disease can vary greatly from patient to patient, which is one of the reasons it can be so difficult to diagnose. The other reason it can be difficult to diagnose is that Pompe disease shares symptoms with many other diseases.
If the above diseases are suspected, it is easy to test for Pompe as well. The worst that would happen is that Pompe would be ruled out, but the best outcome would be that an otherwise mis-diagnosed or undiagnosed patient will be diagnosed and can begin treatment.
Because Pompe disease is rare, most people have never heard of it. How can you recognize and diagnose a disease if you don’t know if exists? But we can all help to change that! Let’s show the world that “Together We Are Strong” and spread the word about the importance of Early Diagnosis for Pompe and how to recognize its symptoms!
Informational Flyers have been created and translated into multiple languages for the patient community to use. Print some out and share, or share this page and we will get the word out that Early Diagnosis is Key!