LAL-D can be diagnosed by demonstrating deficient LAL activity or mutations in the LIPA gene . The level of LAL-D activity is determined using an enzyme-based blood test . Genetic testing enables characterisation of the genetic status of individuals with suspected LAL-D but some infants may have mutations that are not detected by routine screening .
Unexplained liver and lipid abnormalities should raise suspicion of LAL-D . LAL-D is a progressive disease, with rapid progression in some infants, that is associated with severe complications . Therefore, early recognition and accurate diagnosis of LAL-D are critical .
Dietary interventions together with ongoing clinical care are now seen as an integral part of LAL-D management . Studies have shown that a low-fat diet can act as a supportive or complementary treatment . Speak to your doctor about the best way to manage your LAL-D.
Other management options include:
These medications typically treat high cholesterol – a common complication in patients with LAL-D. However, there is evidence that hepatic damage progresses in patients with LAL-D in spite of treatment .
A liver transplant may provide patients with LAL-D relief from liver failure, but it does not address the underlying cause of the disease and may not halt disease progression in the heart and kidneys. It will also not prevent the risk of other severe complications [1,3].
Hematopoietic stem cell transplant (HSCT)
HSCT has been performed in a few infants with LAL-D. While information regarding long-term outcomes is limited, HSCT has been associated with serious complications .
- Reiner Ž, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency — an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235(1):21-30.
- Gralnek IM, Hays RD, Kilbourne A, et al. The impact of irritable bowel syndrome on health-related quality of life. Gastroenterology. 2000;119(3):654-660.
- Bernstein DL, Hülkova H, Bialer MG, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243.
- Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, Pedro H, Ficicioglu C. Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis. 2019 Aug 14;14(1):198
- Jones SA, Rojas-Caro S, Quinn AG, Friedman M, Marulkar S, Ezgu F, et al. Survival in infants treated with sebelipase alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis. 2017;12(1):25.