Targeted screening for acid sphingomyelinase deficiency – a short guide to early diagnosis of a rare metabolic disease with available treatment

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder of sphingomyelin. It is a progressive, potentially fatal disease that affects the liver, spleen, bones, hematological system, and lungs. The incidence is 1 in 250,000 individuals, meaning that statistically, there are 75,900 people with ASMD in Romania. Up until end of November 2024, only 18 patients (15 children and 3 adults) have been diagnosed in our country. Since June 2024, enzyme replacement therapy (ERT) with Olipudase-alfa has been approved in Romania and is now available in accredited centers nationwide. All children diagnosed in Romania are currently undergoing treatment, two of them in the Pediatric Department of “Grigore Alexandrescu” Hospital, accredited within the ASMD subprogram of the National Rare Diseases Program of the Romanian Ministry of Health since November 2024. Patients with persistent splenomegaly of undetermined etiology, hepato(spleno)megaly with short stature and dyslipidemia, persistent thrombocytopenia of undetermined etiology, recurrent bone pain as well as first- and second-degree relatives of patients diagnosed with sphingolipidoses are good candidates for screening. Dry spot testing can be performed free of charge at our center. NPD is currently significantly underdiagnosed in Romania. A coherent screening program is essential to enable early diagnosis of a rare disease for which ERT is available in Romania and fully financially covered by the National Health Insurance House. Increasing awareness among clinicians about this rare disease will ensure success in achieving early treatment.