Enzyme replacement therapy (ERT) for LAL-D called Kanuma was FDA approved in 2015. Kanuma ERT replaces the non-working lysosomal acid lipase enzyme with a man-made version of the enzyme. ERT is giving by intravenous infusion twice a month or weekly for severe infantile patients. This is the only treatment that addresses the underlying disease. ERT should be initiated immediately as soon as the LAL-D diagnosis is made, since it can be life saving. ERT is safe and efficacious. With any medication there is a risk of hypersensitivity reactions, for which ERT patients should be monitored.
For more information on Kanuma enzyme replacement therapy please visit http://www.kanuma.com
Other LAL-D Interventions
Other LAL-D interventions may be helpful, though they do not address the underlying cause of the disease.
Statins may help to lower some kinds of cholesterol in the blood, but does not prevent liver disease in LAL-D. No clinical trials have been published on their efficacy in treating LAL-D. There are several reports of LAL-D patients receiving statins who progressed to liver failure.
Bile acids or bile acid sequestrants have also been tried in patients with LAL-D. No clinical trials have been published on their efficacy in treating LAL-D. There are several reports of LAL-D patients receiving bile acid sequestrants who progressed to liver failure.
Ezetimibe is a cholesterol lowering medication that has been reported to have been used in a few LAL-D patients, but there is no long term follow-up available at this time.
Cholesterol lowering medications and bile acid sequestrants may be helpful if enzyme replacement therapy is not available, but these will not address the underlying cause of LAL-D or stop its progression.
Liver transplant requires life long immunosuppressant drugs with a high long-term risk of life threatening conditions, including organ rejection/graft vs host disease, solid tumor and blood cancers, renal failure, adrenal insufficiency sepsis and death.
Stem Cell Transplant HSCT (hematopoietic stem cell transplant)or BMT (bone marrow transplant)
Stem cell transplant has been attempted for babies and children with LAL-D. In a report of 10 patients with LAL-D treated with HSCT all patients died within 1-3 years of being treated. Seven patients died by 9 months of age, one baby died at age 3.8 years and and other at 3 years of age. There are only a few reports of LAL-D patients with long-term survival following HSCT or BMT, so this should only be attempted for patients with imminently life-threatening illness who cannot access enzyme replacement therapy.
Infants with LAL-D should receive IV feeding called total parenteral nutrition because the intestines are blocked and cannot absorb nutrients.
Babies and children with LAL-D who are able to receive formula feeding may benefit from medium chain triglyceride formulas