Ten-year enzyme replacement therapy in early childhood-onset lysosomal acid lipase deficiency: A case report
World Journal of Hepatology, cilt.18, sa.5, 2026 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 18 Sayı: 5
- Basım Tarihi: 2026
- Doi Numarası: 10.4254/wjh.v18.i5.118469
- Dergi Adı: World Journal of Hepatology
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Anahtar Kelimeler: Case report, Cholesteryl ester storage diseases, Enzyme replacement treatment, Lysosomal acid lipase deficiency, Lysosomal storage disorders, Sebelipase alfa, Wolman disease
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Çukurova Üniversitesi Adresli: Evet
Özet
BACKGROUND Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lipid storage disorder caused by biallelic pathogenic variants in the LIPA gene. The clinical phenotype ranges from the rapidly progressive infantile form (Wolman disease), which usually results in death within the first year of life, to the child-hood/adult-onset form, historically known as cholesteryl ester storage disease. Diagnosis of the later-onset form is often delayed owing to nonspecific clinical features, such as hepatomegaly, elevated transaminases, dyslipidemia resembling heterozygous familial hypercholesterolemia, and/or intestinal manifestations such as malabsorption. CASE SUMMARY A 21-month-old boy presented with abdominal swelling and fever. Physical examination and laboratory evaluation revealed short stature, hepatomegaly, dyslipidemia, and mildly elevated hepatic enzyme levels. Liver biopsy showed fibrosis, lobular inflammation, microvesicular steatosis, and portal inflammation. Lysosomal acid lipase enzyme activity was undetectable, and genetic analysis revealed a biallelic c.894G>A (p.Gln298=) pathogenic variant in the LIPA gene, confirming the diagnosis of LAL-D. The patient was initiated on enzyme replacement therapy with sebelipase alfa at 3 years and 11 months of age through a compassionate use access program. Over 10 years of follow-up, the patient showed clear clinical benefit, including normalization of liver enzymes, improvements in dyslipidemia, reduction in hepatomegaly and hepatic fat content, improvement in liver histopathology, and catch-up growth. No treatment-related adverse effects were observed. CONCLUSION This case highlights the long-term effectiveness and safety of sebelipase alfa initiated in early childhood and emphasizes the importance of early recognition and treatment of LAL-D to prevent irreversible organ damage and disease progression.