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In this dual-presenter session, Dr. Christina Lampe and Prof. Adriana Montano present two compelling and complementary case studies that highlight the complexity of diagnosing and managing mucopolysaccharidosis (MPS), particularly MPS I, and the critical importance of a multidisciplinary care model.
Dr. Lampe opens with the story of a woman with attenuated MPS I (Scheie syndrome), diagnosed only at age 16 despite clear symptoms since infancy. She had joint stiffness, umbilical hernia, developmental delay, and recurrent respiratory infections. Her diagnosis was delayed due to a lack of awareness and the absence of treatment options in the 1990s. It wasn’t until her 30s—after years of missed follow-up and symptomatic management—that she connected with a specialized center, initiated enzyme replacement therapy (ERT), and underwent necessary surgeries including heart valve replacement and carpal tunnel surgery.
This case underscores the importance of:
Dr. Lampe emphasizes that optimal outcomes rely on coordinated care between metabolic specialists, cardiologists, orthopedic surgeons, ENT specialists, and anesthesiologists, among others.
Prof. Montano follows with an overview of the U.S. experience in implementing newborn screening for MPS I, using the state of Missouri as a model. She details the legislative background, technical challenges, and benefits of early identification. Through the Brady-Allen-Cunningham Newborn Screening Act, Missouri now screens all newborns for MPS I using digital microfluidic fluorometry. She outlines the methodology, including enzyme assays and tandem mass spectrometry, and explains how low enzyme activity prompts repeat testing, genetic confirmation, and early specialist referral.
Over four years, Missouri screened over 300,000 infants, identifying two confirmed MPS I cases. Prof. Montano explains that newborn screening can dramatically reduce diagnostic delay, allowing for earlier treatment initiation, including HSCT and ERT, which are most effective in early childhood. She also discusses ongoing challenges such as false positives, pseudodeficiencies, and variability in state-level implementation.
Together, the presenters demonstrate how late diagnosis leads to irreversible complications, while early detection, multidisciplinary care, and evolving screening technologies are shifting the paradigm in MPS management.