Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Sanfilippo syndrome (mucopolysaccharidosis type III) comprises five genetic disorders affecting enzyme activity crucial for heparan sulfate degradation.
• This enzyme deficiency leads to the accumulation of heparan sulfate and secondary storage compounds, causing cellular dysfunction and severe multi-organ effects, particularly in the central nervous system.

Purpose of the Study:

• To review and discuss current multidisciplinary care approaches for Sanfilippo syndrome, addressing the absence of registered therapies.
• To highlight the importance of early diagnosis, optimized symptomatic treatment, and psychological support for patients and families.

Main Methods:

• Literature review focusing on diagnostic strategies, symptomatic treatments, and psychological care for Sanfilippo syndrome.
• Synthesis of information regarding the challenges and best practices in managing MPS III patients.

Main Results:

• Accurate and early diagnosis of MPS III is challenging due to symptom variability and overlap with other conditions.
• Optimized symptomatic treatment is complex, requiring individualized approaches due to atypical patient responses.
• Psychological support is essential for patients, families, and caregivers to manage the disease's burden.

Conclusions:

• Multidisciplinary care is critical for managing Sanfilippo syndrome in the absence of specific therapies.
• Improving diagnostic accuracy, tailoring treatments, and providing comprehensive psychological support are key to enhancing patient quality of life.