The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2016.08.023
Abstract: A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive… read more here.
Keywords: lipid disorders; lipase deficiency; registry; rare genetic ... See more keywords
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2016.11.002
Abstract: BACKGROUND Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause… read more here.
Keywords: familial hypercholesterolemia; acid lipase; lipase deficiency; lysosomal acid ... See more keywords
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.
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DOI: 10.1016/j.medcli.2016.12.044
Abstract: Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme… read more here.
Keywords: lipase deficiency; treatment; lysosomal acid; disease ... See more keywords
Progression of liver disease in children and adults with lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Current Medical Research and Opinion"
DOI: 10.1080/03007995.2017.1309371
Abstract: Abstract Background and objective: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first… read more here.
Keywords: lipase deficiency; lysosomal acid; liver; acid lipase ... See more keywords
Long-term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency.
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DOI: 10.1097/mpg.0000000000003452
Abstract: OBJECTIVES Sebelipase alfa is approved for treatment of lysosomal acid lipase deficiency (LAL-D). This single-arm, open-label study (NCT02112994) evaluated sebelipase alfa efficacy and safety in patients with LAL-D. METHODS Patients >8 months of age diagnosed with… read more here.
Keywords: treatment; sebelipase alfa; acid lipase; lysosomal acid ... See more keywords
Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Case Reports in Gastroenterology"
DOI: 10.1159/000504646
Abstract: Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium. Patients with… read more here.
Keywords: lipase deficiency; lysosomal acid; acid lipase; systemic atherosclerosis ... See more keywords
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0768-8
Abstract: BackgroundLysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by… read more here.
Keywords: lipase deficiency; lysosomal acid; acid lipase; lipase ... See more keywords
Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
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DOI: 10.2169/internalmedicine.0952-18
Abstract: A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient's diabetes mellitus was maintained, but he had persistent insulin resistance. The patient also had persistent severe hypertriglyceridemia (1,224-4,104 mg/dL), despite… read more here.
Keywords: lipoprotein lipase; lipase deficiency; type dyslipidemia;
Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.936121
Abstract: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene. Clinically, LAL-D is under- and misdiagnosed, due to similar clinical and… read more here.
Keywords: universal familial; lysosomal acid; acid lipase; hypercholesterolemia ... See more keywords