A new study has presented baseline data from an international registry of patients with lysosomal acid lipase deficiency (LAL-D) with new information about diagnosing this rare disease.

The study, published in Liver International, found that elevated transaminase levels, along with dyslipidemia and hepatomegaly, potentially indicate LAL-D and should prompt suspicion and early diagnosis of the disease.

“An Observational Disease and Clinical Outcomes Registry of Patients With LAL-D, hereafter referred to as the International LAL-D Registry, was initially established in 2013 as a natural history registry,” the authors wrote. “The objectives of this analysis are to describe the demographic and baseline clinical characteristics of patients with LAL-D enrolled in the registry through 2 May 2022, and to describe the baseline characteristics of subpopulations according to age and sebelipase alfa treatment status.”

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The International LAL-D Registry is a multicenter, ongoing registry that collects demographic, socioeconomic, clinical, and treatment data from physicians on patients with LAL-D. As of May 2, 2023, there were 293 patients enrolled from 99 centers in 23 countries. The current analysis was limited to the 228 living adult and pediatric patients with genetically confirmed LAL-D and with known sebelipase alfa treatment status.

Read more about LAL-D epidemiology

The results revealed a median delay from symptom onset to diagnostic testing for LAL-D of 3.3 years. The younger the age at diagnosis, the more abnormal were liver enzyme and cholesterol levels. The diagnostic delay impedes the ability to alter the course of the disease by treating the underlying pathophysiology with current enzyme replacement therapies.

Comparing patients treated or not with sebelipase alfa revealed that the treatment offers the most benefits to those with more severe baseline symptoms, which are usually younger patients.

Registry physicians tended to suspect LAL-D in the presence of elevated liver enzymes and hepatomegaly. To reduce the diagnostic delay and speed treatment initiation, the authors recommend using an updated diagnostic algorithm along with recently published consensus recommendations on LAL-D assessment and monitoring.


Balwani M, Balistreri W, D’Antiga L, et al. Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry. Liver Int. Published online May 24, 2023. doi:10.1111/liv.15620