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This educational Chiesi-sponsored webinar focuses on recognizing early signs of Alpha-Mannosidosis (AM), a rare and often underdiagnosed lysosomal storage disorder. Prof. Christina Lampe moderated the session, which featured expert insights from Dr. Karolina Stepien and Dr. Can Ficicioglu. The panel highlights the importance of raising awareness among clinicians to reduce diagnostic delays and improve early intervention opportunities.
Alpha-Mannosidosis presents with a wide range of symptoms, making early identification difficult. Common features include progressive cognitive impairment, sensorineural hearing loss, recurrent respiratory infections, skeletal abnormalities, and coarse facial features. Psychiatric manifestations such as anxiety or psychosis may also appear during adolescence or adulthood. Due to the variability in symptoms, many patients undergo a prolonged diagnostic journey, often lasting several years.
The webinar discusses red flags in both pediatric and adolescent populations. For younger children, developmental delays combined with hearing impairment and speech difficulties may warrant further investigation. In adolescents, progressive mobility issues, joint pain, and behavioral or psychiatric changes are more prominent. Panelists emphasize the importance of evaluating the whole clinical picture rather than isolated symptoms.
A detailed patient case illustrates the diagnostic odyssey commonly experienced in AM. The patient, a woman diagnosed at age 31, exhibited multiple early signs including hearing loss, speech delay, and recurrent infections in childhood, yet remained undiagnosed for decades. The case underscores the challenges of subtle and non-specific symptomatology, reinforcing the need for increased clinical suspicion and timely referral to metabolic centers.
The speakers also discuss diagnostic tools such as urine oligosaccharide screening, enzyme assays, and genetic testing for MAN2B1 mutations. Inclusion of AM in gene panels for hearing loss or intellectual disability, and eventually in newborn screening, are suggested as strategies to improve early diagnosis.
Two diagnostic algorithms tailored to children under and over 10 years old are reviewed, guiding clinicians on when to refer patients for specialist evaluation. Additionally, the impact of AM on patients’ and caregivers’ quality of life is acknowledged, emphasizing the value of multidisciplinary care approaches.
The webinar concludes with a discussion on overcoming diagnostic barriers, advocating for increased clinician education, improved access to testing, and broader screening measures. These efforts aim to ensure earlier diagnosis and better outcomes for children with Alpha-Mannosidosis.