Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications. Mortality is close to 100% before one year of life in the absence of specific treatment. The later-onset form can be diagnosed in childhood or adulthood and is characterized by chronic liver injury and/or lipid profile alterations. When LAL-D is suspected, enzyme activity should be determined to confirm the diagnosis, with analysis from a dried blood spot sample being the quickest and most reliable method. In infantile-onset LAL-D, the initiation of enzyme replacement therapy (sebelipase α) and careful nutritional management with a low-lipid diet is very urgent, as prognosis is directly linked to the early initiation of specific treatment. In recent years, our knowledge of the management of LAL-D has increased considerably, with improvements regarding the initial enzyme replacement therapy dose and careful nutritional treatment with a low-lipid diet to decrease lipid deposition and systemic inflammation, leading to better outcomes. In this narrative review we offer a quick guide for the initial management of infantile-onset LAL-D.

Background/Objectives: Data on the natural history and endoscopic treatment outcomes of recurrent anastomotic biliary stricture (RABS) after orthotopic liver transplantation (OLT) are limited. This study aimed to evaluate the incidence and outcomes of RABS after OLT. Methods: A retrospective single-center study on OLT patients who underwent successful endoscopic treatment of ABS was conducted. The incidence of RABS, risk factors for recurrence, and outcomes of repeat endoscopic therapy were recorded. Results: A total of 131 OLT patients with ABS underwent endoscopic treatment, of which 119 successfully completed an endoscopic treatment course. After a median follow-up of 51.5 months (IQR 18.5–86.25) from ABS resolution, 26/119 patients (22.7%) developed RABS. All patients with RABS underwent a second endoscopic treatment course; 24 patients received self-expandable metal stents and 2 received plastic stents. Re-treatment was successful in 21 patients (80.8%) after a median of 8.5 months (IQR 5.25–14.50) and a total of 62 ERCPs. Adverse events occurred in two patients (7.4%)—one bacteremia and one suprastenotic biliary stricture. After a median follow-up of 65.5 months (IQR 20.75–125.5) from stent removal, only one patient had a second recurrence, which was treated with a Roux-en-Y hepaticojejunostomy. Multivariate analysis showed that older age at ABS diagnosis (OR 1.1; 95% CI: 1.1–1.2 p = 0.04) was the only independent risk factor for recurrence. Conclusions: RABS affects more than 20% of patients after successful endoscopic treatment. A second endoscopic therapy with covered self-expandable metal stents is a safe and effective option and should be considered before more invasive options.