Ace the Case: A 28-Year-Old Man With Hepatomegaly and Dyslipidemia
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Summary and References
LAL-D is a rare genetic disease with significant morbidity and early mortality due to the marked decrease of LAL enzyme activity, which results in the accumulation of lipid substrates in various tissues and cell types, and the complex dyslipidemia that subsequently results, increasing the risk of cardiovascular disease.2
There is a need for enhanced awareness of LAL-D so that early diagnosis can help limit disease-associated morbidity and mortality. Differential diagnosis is key because a number of other conditions have similar clinical and laboratory presentations. Early recognition and diagnosis of individuals with LAL-D is essential if appropriate care is to be provided. The recent development of a blood test for LAL-D1 provides physicians with a method for rapid diagnosis, and FDA approval of sebelipase offers a therapeutic option for this rare but devastating disease.11
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- Valayannopoulos V, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61(5):1135-1142.
- Actelion Pharmaceuticals. December 8, 2015. FDA Approves Kanuma™ (sebelipase alfa) for the Treatment of Patients with Lysosomal Acid Lipase Deficiency (LAL-D). https://news.alexionpharma.com/press-release/product-news/fda-approves-kanuma-sebelipase-alfa-treatment-patients-lysosomal-acid-lip, 2019.