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Published on: April 11, 2016
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth
Federico Baronio1, Stefano Zucchini1, Francesco Zulian2
1Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
Insights
Short stature in children may indicate attenuated Mucopolysaccharidosis Type I (MPS Ia). A new algorithm helps pediatric endocrinologists identify milder clinical signs, aiming to reduce diagnostic delays for this rare disease.
Area of Science:
- Pediatric Endocrinology
- Rare Diseases
- Metabolic Disorders
Background:
- Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to rarity and variable presentation.
- Short stature and impaired growth are frequent but often overlooked signs of MPS Ia in children.
- Paediatric endocrinologists often lack training in recognizing early, milder clinical manifestations of MPS Ia.
Purpose of the Study:
- To develop a clinical approach for diagnosing MPS Ia in children presenting with short stature or stunted growth.
- To improve the diagnostic pathway for attenuated MPS Ia.
- To enhance awareness among paediatric endocrinologists regarding MPS Ia.
Main Methods:
- A consensus-based methodology was employed.
- A multidisciplinary panel (pediatric endocrinologists, metabolic disorder specialists, radiologists, rheumatologists) shared expertise.
- An algorithm was developed for diagnosing MPS Ia in children over 5 years old with short stature and suggestive signs.
Main Results:
- An algorithm was created to aid in suspecting MPS Ia in children over 5 years old with short stature and specific clinical indicators.
- The algorithm provides a structured approach for identifying potential MPS Ia cases.
- The study highlights key clinical signs suggestive of MPS Ia in the context of growth issues.
Conclusions:
- The proposed algorithm can serve as a valuable tool for improving paediatric endocrinologists' awareness of MPS Ia.
- Implementation of the algorithm has the potential to significantly reduce diagnostic delays for MPS Ia patients.
- Early and accurate diagnosis of MPS Ia is crucial for timely management and improved patient outcomes.
Abstract:
Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and milder clinical signs of this condition. Materials and Methods: Following a consensus-based methodology, a multidisciplinary panel including paediatric endocrinologists, paediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth. Results: The result was the formation of an algorithm that illustrates how to raise the suspicion of MPS Ia in a patient older than 5 years with short stature and suggestive clinical signs. Conclusion: The proposed algorithm may represent a useful tool to improve the awareness of paediatric endocrinologists and reduce the diagnostic delay for patients with MPS Ia.
