New York, NY -- (SBWIRE) -- 12/15/2017 -- Lysosomal acid lipase deficiency (LAAL) is an autosomal recessive genetic disorder caused due to mutation in LIPE (Lipase E) gene which encodes the lysosomal acid lipase proteins on chromosome 10q23.31. Thus, due to mutation in LIPE gene there is no enough production of this active enzyme lysosomal acid lipase (LAAL) which leads to lysosomal acid lipase deficiency. Basic function of lysosomal acid lipase enzyme is to hydrolyze cholesterol esters and triglycerides. Lysosomal acid lipase deficiency phenotypic spectrum ranges from infantile to late-onset form, thus leading to two types of lysosomal acid lipase deficiency autosomal recessive diseases known as wolman disease and cholesterol ester storage disease (CESD) respectively. Wolman disease is complete loss of lysosomal acid lipase enzyme occurring in infants with an incidence of about 1 in 500,000 of live births. It is characterized by diarrhea, vomiting, weight loss which eventually leads to malnutrition, hepatomegaly or even death. Wolman disease results into hepatomegaly and liver disease due to deposition of cholesterol esters and triglycerides in hepatic macrophages.
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Wolman disease also leads to adrenal cortical insufficiency due to calcification of adrenal glands. It is mandatory in case of infants to undergo successful hematopoietic stem cell transplantation in order to survive beyond a year. Cholesterol ester storage disease can also occur in childhood and is characterized by partial loss of lysosomal acid lipase enzyme production with more varied presentation. Cholesterol ester storage disease generally occurs late and in most cases is asymptomatic and underdiagnosed. Cholesterol ester storage disease has incidence of 1 in 40,000 individual, relatively high in comparison to Wolman disease. Cholesterol ester storage disease is indicated by hepatosplenomegaly, abnormalities in serum lipid and/or elevation of hepatic enzymes. Late-onset morbidity in cholesterol ester storage disease is due to atherosclerosis, anemia and/or thrombocytopenia, anemia and also liver diseases such as fibrosis, cirrhosis, and steatosis etc.
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Lysosomal acid lipase deficiency results in systemic complications due to over deposition or accumulation of triglycerides and cholesteryl esters. Lysosomal acid lipase deficiency is an ultra-rare disease affecting less than 20 patients per million population. Lysosomal acid lipase deficiency mainly causes multi-organ damage that might lead to death if not treated on time. Diagnosis of lysosomal acid lipase deficiency is done with help of sequencing of LIPA gene and also by measuring amount of lysosomal acid lipase enzyme present in peripheral blood leukocytes, dried blood spots or fibroblasts.
The currently available treatment for lysosomal acid lipase deficiency is intended to lower the cholesterol and triglycerides level with help of statins and cholestyramine. Maintaining levels of cholesterol and triglycerides prevents premature atherosclerosis. The lysosomal acid lipase deficiency treatment market is expected to drive the market mainly due to the growing prevalence and lack of approved treatment for it, except for recently approved drug sebelipase alfa. This recent approval of sebelipase alfa drug is also expected to drive the market for lysosomal acid lipase deficiency treatment market. Challenges in lysosomal acid lipase deficiency treatment market is that unawareness of the people about LAAL deficiency. The lysosomal acid lipase deficiency treatment market is also restrained by lack of thorough understanding about the disease as well as treatment.
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