Lysosomal acid lipase deficiency (LAL-D) is a rare inherited lysosomal storage disease leading to accumulation of lipids in organs and tissues. Severity varies from a rapidly progressive infantile form to a less severe, later-onset form. This study aimed to describe patients with LAL-D identified between 2007 and 2020, their treatment, and the burden of disease in France. A retrospective longitudinal study was conducted using nationwide claims data from the French National Health Data System (SNDS). Male and female patients were identified as having a diagnosis of LAL-D or having been administered sebelipase alfa, the only approved treatment. Of 43 patients with LAL-D identified, 17 and 26 had the infantile and later-onset forms, respectively. Frequent symptoms among infants and children included hepatomegaly, splenomegaly, and malnutrition or failure to thrive. Sebelipase alfa was administered to 10 patients with each LAL-D form. Several patients with the infantile form had hepatic complications, including portal hypertension, fibrosis, cirrhosis, and hepatic failure. Three patients, none of whom were treated with sebelipase alfa, died during the study period before the age of 2 years. The later-onset form of LAL-D was associated with hepatic complications among younger patients and cardiovascular events among older patients. Some patients with the later-onset form were treated with sebelipase alfa. Sebelipase alfa is not commercially available in France for symptomatic LAL-D in patients older than 2 years of age at disease onset; therefore, these patients may have started treatment in a clinical trial or based on a compassionate individual access. Most patients in this study were treated with lipid-lowering medications; however, several patients remained untreated. This descriptive study based on claims data confirmed the severity of LAL-D and the need to define the best management, considering the heterogeneity of the patients. Lysosomal acid lipase deficiency (LAL-D) is a rare inherited disease leading to accumulation of lipids in organs and tissues. Symptoms of the disease can appear during infancy or later. The disease is typically more severe when symptoms start in infancy, and the disease can be life-threatening if left untreated. Sebelipase alfa is the only approved treatment for LAL-D. The objective of our study was to describe patients with LAL-D in France. We identified 43 patients with LAL-D between 2007 and 2020. Of these, 17 had infantile and 26 had later-onset forms, respectively. In each group, 10 patients were treated with sebelipase alfa. Several patients with the infantile form had hepatic complications. Three of 7 patients not treated with sebelipase alfa died before the age of 2 years, whereas none of the patients treated with sebelipase alfa died. Among patients with the later-onset form, hepatic complications were observed among younger patients, whereas cardiovascular events were observed among older patients. In France, sebelipase alfa is not commercially available for patients who had first symptoms of LAL-D after 2 years of age. Patients who had symptoms of LAL-D later and were treated with sebelipase alfa may have therefore started treatment in a clinical trial or based on a compassionate individual access. Most patients in this study were treated with lipid-lowering medications; however, several patients remained untreated despite their burden, showing the need to define the best management for this disease, especially considering the heterogeneity of the patients.
Lacaille et al. (Tue,) studied this question.