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In this foundational webinar, Dr. Christina Lampe introduces the clinical complexity of Mucopolysaccharidoses (MPS) and alpha-mannosidosis, highlighting the challenges healthcare professionals face in diagnosing and managing these rare but treatable lysosomal storage disorders. Dr. Lampe, Director of the Center for Rare Diseases at the University of Gießen, uses real-world cases and imagery to stress how early symptoms often overlap with common pediatric complaints, delaying accurate diagnosis.
The session begins by outlining the clinical variability of MPS and alpha-mannosidosis, emphasizing the heterogeneity in symptom severity and progression across patients. Dr. Lampe illustrates how signs such as recurrent respiratory infections, hearing loss, hernias, joint stiffness, and developmental delay may initially appear non-specific but, when combined, should prompt suspicion of an underlying metabolic disorder.
A detailed case study of a young male child showcases the subtle early signs of disease and the gradual progression toward multisystemic involvement, underscoring the diagnostic delay often seen in non-classical or slowly progressive forms. The session reviews the wide range of disease manifestations affecting the skeletal, cardiac, pulmonary, neurological, and ENT systems, supported by visual comparisons of mild and severe presentations across various MPS subtypes.
Dr. Lampe outlines diagnostic tools, including urine tests for glycosaminoglycans (GAGs) and oligosaccharides, enzyme activity assays in blood or fibroblasts, and the increasingly available dried blood spot testing. She explains that while urine screening is helpful, enzyme activity testing remains the gold standard for confirmation. Genetic testing complements diagnosis but may yield false negatives if novel mutations are not yet characterized.
The pathophysiology of MPS and alpha-mannosidosis is described as the accumulation of undegraded substrates due to enzyme deficiencies, causing cellular dysfunction and widespread organ involvement. Dr. Lampe stresses that although these diseases are rare, the availability of treatments such as enzyme replacement therapy (ERT) and, for certain cases, hematopoietic stem cell transplantation (HSCT), makes early diagnosis crucial to prevent irreversible damage and improve outcomes.
The webinar concludes by outlining follow-up strategies and treatment goals, including multidisciplinary care, symptom-specific interventions, and the importance of monitoring disease progression. Dr. Lampe urges clinicians to maintain high suspicion for these disorders, reinforcing the mantra: “It will not be diagnosed if you do not think of it.”