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Adult-onset pulmonary involvement in Niemann-Pick disease type B
F Iaselli1, G Rea, S Cappabianca
1Department of Clinical Internal Medicine F. Magrassi-L. Lanzara, Science Section of Radiology, Seconda Università degli Studi di Napoli, Primo Policlinico di Napoli, Italy. francescoiaselli@hotmail.it
Summary
Niemann-Pick disease type B (NPDB) primarily affects the lungs, often leading to severe respiratory issues. This report details an adult-onset case, highlighting the under-recognized clinical and functional lung manifestations in adults.
Area of Science:
- Biochemistry
- Genetics
- Pulmonology
Background:
- Niemann-Pick disease type B (NPDB) results from acid sphingomyelinase deficiency.
- NPDB is frequently linked to lung involvement, a primary cause of morbidity and mortality.
- Adult-onset NPDB is under-reported and poorly understood compared to infantile forms.
Observation:
- A 37-year-old female with infant-onset NPDB presented with worsening exertional dyspnea.
- The patient had a history of aortic valve replacement two years prior.
- Pulmonary function tests and imaging revealed diffuse lung involvement due to NPDB.
Findings:
- The patient's dyspnea was attributed to advanced pulmonary manifestations of NPDB.
- A literature review of adult-onset NPDB cases since 1964 was conducted.
- Potential associations between NPDB, lysosomal storage disorders, and valvular disease were explored.
Implications:
- This case underscores the importance of recognizing adult-onset NPDB and its pulmonary sequelae.
- Further research is needed to characterize adult NPDB manifestations and outcomes.
- Investigating the link between NPDB, lysosomal storage disorders, and cardiac valvular disease may offer new therapeutic insights.
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