Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.

ABSTRACT: Acid sphingomyelinase deficiency (ASMD) is an ultra-rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations of the chronic visceral subtype are variable and encompass different degrees of hepatosplenomegaly, pulmonary disease and dyslipidemia. The aim of this study was to provide insights into the natural course of adult patients with the chronic visceral subtype. Based on these insights, we proposed tentative criteria for initiation and follow-up of enzyme replacement therapy (ERT). The data of 23 adult patients were collected in a prospective study. Clinical, genetic and demographic data, plasma measurements, abdominal imaging, pulmonary imaging, pulmonary function tests and quality

SUBMITTER: Eskes ECB 

PROVIDER: S-EPMC11670446 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature