Portuguese Clinical Practice and Costs in the Treatment of Acid Sphingomyelinase Deficiency Disease

OBJECTIVES: To describe the clinical practice and estimate the costs related to the treatment of acid sphingomyelinase deficiency disease (ASMD), type B or A/B, in the Portuguese National Health Service.

METHODS: A panel with four experts (pediatrics and internal medicine), from four reference centers for lysosomal storage diseases, geographically distributed, was conducted, during 2023, in order to characterize the Portuguese routine care. Experts replied individually to a structured electronic questionnaire about their experience on ASMD treatment. Responses were collected and aggregated results were produced based on arithmetic averages, according to Portuguese methodological guidelines. Resource use related to ASMD complications was based on the expert panel, Diagnosis-Related Group (DRGs) database and study SPHINGO-302. The main sources for unit costs were national legislation and official drug cost databases.

RESULTS: The panel estimates that 6.1% of ASMD patients are hospitalized and 16.3% resort to emergency, per year. On average, patients go to 10.0 healthcare professionals’ visits and do 10.1 laboratory tests and 6.9 exams per year. Regarding medication, these patients use vitamin D (67.5%), flu vaccination (67.5%), antibiotics (61.3%), bronchodilators (35.8%), statins (28.8%), among others. Combining resource use and unit costs, we estimate a yearly follow-up cost of 923€ per ASMD patient. A total of 78 complications, grouped in five classes, were analyzed, and a mean cost per complication type was calculated: € 828 (respiratory), € 1,786 (spleen), € 1,283 (liver), € 3,668 (cardiovascular) and € 124 (major bleeding).

CONCLUSIONS: ASMD is a rare disease, therefore, data to characterize disease treatment is scarce. This study provides some insights on patient management, including disease complications, and estimates costs associated with ASMD in Portugal.