Lysosomal acid lipase deficiency in pediatric patients: a scoping review

Area of Science:

• Pediatric rare diseases
• Genetic metabolic disorders
• Gastroenterology and Hepatology

Background:

• Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disorder.
• Early diagnosis is critical for effective therapy and improved long-term survival in pediatric patients.
• LAL-D presents with a wide spectrum of clinical manifestations, from early-onset Wolman disease to later-onset cholesteryl ester storage disease (CESD).

Purpose of the Study:

• To identify key clinical and laboratory warning signs of LAL-D in pediatric patients.
• To improve the recognition of LAL-D, an often underdiagnosed condition.
• To provide a basis for earlier diagnosis and intervention in affected children.

Main Methods:

• A comprehensive scope review of electronic databases including Embase, PubMed, and Web of Science.
• Inclusion of observational studies detailing clinical and laboratory characteristics of pediatric LAL-D patients.
• Data extraction and analysis of 108 studies encompassing 206 patients diagnosed via enzyme activity or LIPA gene mutation analysis.

Main Results:

• The review identified 108 studies from 30 countries, including 206 pediatric patients with LAL-D (Wolman disease and CESD).
• The most common manifestations observed were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases.
• These findings highlight a consistent pattern of clinical and laboratory abnormalities in pediatric LAL-D.

Conclusions:

• Gastrointestinal symptoms such as vomiting, diarrhea, jaundice, combined with splenomegaly, may indicate LAL-D.
• Familial hemophagocytic lymphohistiocytosis should be considered in the differential diagnosis of LAL-D.
• Intestinal biopsy during upper gastrointestinal endoscopy is recommended for patients with suspected LAL-D.