Key Takeaways from Dr. Chien:
- Newborn screening (NBS) for Pompe disease enables early detection and initiation of enzyme replacement therapy which is beneficial to classic infantile onset Pompe disease (IOPD) patients.
- The false positive rate in NBS for Pompe disease is increased due in part to pseudodeficiencies - regardless of first tier screening method.
- Second tier testing is necessary to decrease the false positive rate and facilitate the referral process for true positives.
- Screening for late onset Pompe disease (LOPD) is important because 1) first tier screening does not differentiate IOPD from LOPD and 2) LOPD can present in childhood.
- Pompe disease is a spectrum starting with the classic IOPD which presents with cardiomegaly at birth. LOPD patients may not show symptoms until adulthood, but atypical LOPD patients exist who experience cardiomegaly after the newborn stage during childhood.