Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial)

An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.

Also Known As:

Lipoprotein Lipase Deficiency, Familial; Apolipoprotein C II Deficiency; Familial Hyperchylomicronemia; Familial Lipoprotein Lipase Deficiency; Hyperchylomicronemia, Familial; Burger-Grutz Syndrome; C-II Anapolipoproteinemia; Chylomicronemia, Familial; Familial Fat-Induced Hypertriglyceridemia; Familial Hyperlipoproteinemia Type 1; Familial LPL Deficiency; Hyperlipemia, Essential Familial; Hyperlipemia, Idiopathic, Burger-Grutz Type; Hyperlipoproteinemia Type Ia; Hyperlipoproteinemia Type Ib; Hyperlipoproteinemia, Type I; Hyperlipoproteinemia, Type Ia; Hyperlipoproteinemia, Type Ib; LIPD Deficiency; Lipase D Deficiency; Lipoprotein Lipase Deficiency; Anapolipoproteinemia, C-II; Anapolipoproteinemias, C-II; Apolipoprotein C-II Deficiencies; Burger Grutz Syndrome; Burger-Grutz Syndromes; C-II Anapolipoproteinemias; Chylomicronemias, Familial; Deficiencies, Apolipoprotein C-II; Deficiencies, Familial LPL; Deficiencies, LIPD; Deficiencies, Lipase D; Deficiencies, Lipoprotein Lipase; Deficiency, Apolipoprotein C-II; Deficiency, Familial LPL; Deficiency, LIPD; Deficiency, Lipase D; Deficiency, Lipoprotein Lipase; Essential Familial Hyperlipemia; Essential Familial Hyperlipemias; Familial Chylomicronemia; Familial Chylomicronemias; Familial Fat Induced Hypertriglyceridemia; Familial Fat-Induced Hypertriglyceridemias; Familial Hyperchylomicronemias; Familial Hyperlipemia, Essential; Familial Hyperlipemias, Essential; Familial LPL Deficiencies; Fat-Induced Hypertriglyceridemia, Familial; Fat-Induced Hypertriglyceridemias, Familial; Hyperchylomicronemias, Familial; Hyperlipemias, Essential Familial; Hyperlipoproteinemia Type Ias; Hyperlipoproteinemia Type Ibs; Hyperlipoproteinemia Type Is; Hyperlipoproteinemias, Type I; Hyperlipoproteinemias, Type Ia; Hyperlipoproteinemias, Type Ib; Hypertriglyceridemia, Familial Fat-Induced; Hypertriglyceridemias, Familial Fat-Induced; LIPD Deficiencies; LPL Deficiencies, Familial; LPL Deficiency, Familial; Lipase D Deficiencies; Lipase Deficiencies, Lipoprotein; Lipoprotein Lipase Deficiencies; Syndrome, Burger-Grutz; Syndromes, Burger-Grutz; Type I Hyperlipoproteinemia; Type I Hyperlipoproteinemias; Type Ia Hyperlipoproteinemia; Type Ia Hyperlipoproteinemias; Type Ib Hyperlipoproteinemia; Type Ib Hyperlipoproteinemias; Apolipoprotein C-II Deficiency

Networked: 379 relevant articles (12 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Costello Syndrome
2.	Hypertriglyceridemia
3.	Pancreatitis
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Dyslipidemias (Dyslipidemia)

Experts

1.	Hegele, Robert A: 16 articles (04/2024 - 03/2002)
2.	Gaudet, Daniel: 16 articles (12/2023 - 06/2009)
3.	Witztum, Joseph L: 12 articles (04/2024 - 12/2014)
4.	Alexander, Veronica J: 9 articles (04/2024 - 12/2014)
5.	Arca, Marcello: 8 articles (04/2024 - 07/2018)
6.	Soran, Handrean: 7 articles (04/2024 - 01/2017)
7.	Brisson, Diane: 7 articles (12/2023 - 12/2010)
8.	Tsimikas, Sotirios: 6 articles (04/2024 - 04/2016)
9.	Ahmad, Zahid: 6 articles (03/2022 - 05/2014)
10.	Chen, Jin: 6 articles (12/2017 - 02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperlipoproteinemia Type I:

1.	Triglycerides (Triacylglycerol)IBA 01/01/2018 - "Eight patients diagnosed with familial hyperchylomicronemia with recessive inheritance were included in this study (two males and six females; median age of onset 23.0 years; mean triglyceride level 3446 mg/dl). " 08/11/2023 - "Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series." 01/01/2017 - "The first approved gene therapy in the Western world was indicated for lipoprotein lipase deficiency, which causes high plasma triglyceride levels. " 02/01/2012 - "Compared with controls, familial LPL deficiency had markedly elevated plasma triglycerides and lower VLDL-apoB-100 fractional catabolic rate (FCR), IDL-apoB-100 FCR, VLDL-to-IDL conversion, and VLDL-apoB-100 production rate (P<0.01). " 06/01/1999 - "Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency."
2.	Lipoproteins (Lipoprotein)IBA 11/01/2023 - "Lipoprotein electrophoresis revealed that the patient fulfilled the diagnostic criteria of type I hyperlipoproteinemia. " 01/01/2019 - "Type I hyperlipoproteinemia is an autosomal recessive disorder of lipoprotein metabolism caused by mutations in the LPL gene, with an estimated prevalence in the general population of 1 in a million. " 06/01/1998 - "These data suggest that lipoprotein lipase deficiency in the vascular wall could prevent the retention of atherogenic lipoproteins." 01/01/1993 - "Metabolism of apoB-100-containing lipoproteins in familial hyperchylomicronemia." 01/01/1988 - "Apolipoprotein C-II deficiencies: in vivo models for assessing the significance of defective lipolysis on lipoprotein metabolism."
3.	ChylomicronsIBA 02/01/1973 - "Light and electron microscopic study of aspirated bone marrow of a patient with type I hyperlipoproteinemia disclosed large, birefringent foam cells which develop from phagocytosis of chylomicrons by histiocytes. " 12/01/2020 - "Evaluation of the chylomicron-TG to VLDL-TG ratio for type I hyperlipoproteinemia diagnostic." 07/01/1999 - "Chylomicron metabolism in an animal model for hyperlipoproteinemia type I." 01/01/1983 - "Our results from patients with lipoprotein lipase deficiency and other abnormalities of lipid metabolism suggest that considerable transfer occurs during the initial catabolism of the chylomicrons." 02/01/1973 - "Chylomicrons and the formation of foam cells in type I hyperlipoproteinemia. "
4.	Apolipoprotein C-IIIIBA 01/01/2021 - "These treatments may have applicability for reducing risk from ASCVD among individuals with chylomicronemia; in addition, ApoC-III and AngPTL3 treatments may have a role in treating individuals with the rare monogenic familial chylomicronemia syndrome (FCS) at risk for acute pancreatitis (AP). " 05/16/2024 - "Olezarsen reduces the plasma triglyceride level by reducing hepatic synthesis of apolipoprotein C-III. In a phase 3, double-blind, placebo-controlled trial, we randomly assigned patients with genetically identified familial chylomicronemia syndrome to receive olezarsen at a dose of 80 mg or 50 mg or placebo subcutaneously every 4 weeks for 49 weeks. " 04/01/2024 - "Inhibitors of apolipoprotein C-III (apoC3) are currently approved for the reduction of triglyceride levels in patients with Familial Chylomicronemia Syndrome. " 12/14/2023 - "Inhibition of ANGPTL3 or the ANGPTL3/8 complex upregulates LPL and facilitates the hydrolysis and clearance of triglyceride-rich lipoproteins (TRL) (LPL-dependent mechanisms), whereas ApoC-III inhibitors contribute to the management and clearance of TRL through both LPL-dependent and LPL-independent mechanisms making it possible to successfully lower TG in subjects completely lacking LPL (familial chylomicronemia syndrome). " 12/01/2023 - "Inhibition of ANGPTL3 or the ANGPTL3/8 complex upregulates LPL and facilitates the hydrolysis and clearance of triglyceride-rich lipoproteins (TRL) (LPL-dependent mechanisms), whereas ApoC-III inhibitors contribute to the management and clearance of TRL through both LPL-dependent and LPL-independent mechanisms making it possible to successfully lower TG in subjects completely lacking LPL (familial chylomicronemia syndrome). "
5.	pradigastatIBA 12/01/2018 - "Pradigastat is a novel diacylglycerol acyltransferase 1 inhibitor which substantially reduces extremely high TGs levels and appears to be promising in treatment of the rare familial chylomicronemia syndrome." 11/01/2016 - "Pradigastat, a novel diacylglycerol acyltransferase 1 inhibitor, has been studied in familial chylomicronemia syndrome. " 10/01/2015 - "Pradigastat, a diacylglycerol acyltransferase 1 inhibitor, is being developed for the treatment of familial chylomicronemia syndrome. " 07/01/2015 - "Pradigastat, a novel diacylglycerol acyltransferase 1 inhibitor, is under development to treat familial chylomicronemia syndrome. " 07/01/2015 - "Pradigastat, a diacylglycerol acyltransferase1 inhibitor, is being developed for the treatment of familial chylomicronemia syndrome. "
6.	Diacylglycerol O-AcyltransferaseIBA 12/01/2018 - "Pradigastat is a novel diacylglycerol acyltransferase 1 inhibitor which substantially reduces extremely high TGs levels and appears to be promising in treatment of the rare familial chylomicronemia syndrome." 11/01/2016 - "Pradigastat, a novel diacylglycerol acyltransferase 1 inhibitor, has been studied in familial chylomicronemia syndrome. " 10/01/2015 - "Pradigastat, a diacylglycerol acyltransferase 1 inhibitor, is being developed for the treatment of familial chylomicronemia syndrome. " 07/01/2015 - "Pradigastat, a novel diacylglycerol acyltransferase 1 inhibitor, is under development to treat familial chylomicronemia syndrome. " 08/08/2019 - "Diacylglycerol O-acyltransferase 1 (DGAT1) inhibitor Pradigastat (1) was shown to be effective at decreasing postprandial triglyceride levels in a patient population with familial chylomicronemia syndrome (FCS). "
7.	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 06/20/1991 - "Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of lipoprotein lipase deficiency. " 02/01/1985 - "[Hyperlipoproteinemia type I. Study of a familial deficiency of lipoprotein-lipase]." 01/01/1985 - "The studies suggested that the deficit of lipoprotein lipase in Type I hyperlipoproteinemia extended to the mammary gland." 03/01/2023 - "Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome." 12/01/2022 - "Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature."
8.	LipidsIBA 01/01/1985 - "This report describes studies on the plasma and milk lipid composition of a patient with primary Type I hyperlipoproteinemia who had been followed through her second pregnancy. " 01/01/2017 - "The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency." 01/01/2005 - "Gene therapy for genetic lipid disorders: lipoprotein lipase deficiency as a paradigm." 02/01/1997 - "Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency." 06/09/1992 - "Alterations in erythrocyte membrane lipid composition and fluidity in primary lipoprotein lipase deficiency."
9.	ISIS 304801IBA 01/01/2019 - "We conducted a phase 3, double-blind, randomized 52-week trial to evaluate the safety and effectiveness of volanesorsen in 66 patients with familial chylomicronemia syndrome. " 07/01/2018 - "The effect of volanesorsen treatment on the burden associated with familial chylomicronemia syndrome: the results of the ReFOCUS study." 05/01/2024 - "Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen." 10/22/2021 - "Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report." 08/01/2021 - "Volanesorsen for treatment of familial chylomicronemia syndrome."
10.	EnzymesIBA 09/01/2015 - "The diagnosis of type I hyperlipidaemia due to complete lipoprotein lipase deficiency was later confirmed by the molecular genetic identification of a homozygous mutation in the LPL gene encoding the enzyme. " 08/01/1996 - "In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revealing compound heterozygosity for two mutations (Asp9Asn, Ser447Ter) which are not supposed to considerably impair lipolytic enzyme activity. " 03/15/1994 - "A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity." 01/01/1990 - "In postheparin plasma, five patients with type I hyperlipoproteinemia displayed decreased LPL immunoreactive mass when compared to normal subjects, although there was a wide range of specific activity of the small amount of enzyme present. " 02/01/1982 - "Cells cultured from a subject with primary lipoprotein lipase deficiency secreted no detectable enzyme. "

Therapies and Procedures

1.	Plasma Exchange 06/01/2022 - "Prophylactic therapeutic plasma exchange in pregnant woman with Familial Chylomicronemia Syndrome - A case report." 08/12/2022 - "Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report." 11/01/2019 - "Efficacy of therapeutic plasma exchange in reducing the incidence of recurrent pancreatitis related to familial chylomicronemia." 02/01/2019 - "Therapeutic plasma exchange in secondary prevention of acute pancreatitis in pregnant patient with familial hyperchylomicronemia."
2.	Diet Therapy (Therapy, Diet) 07/26/2019 - " Long-term management with dietary modifications alone could be effective for primary hypertriglyceridemia due to lipoprotein lipase deficiency, at least in early childhood phase." 01/01/2018 - "One-year results are reported of the first lipoprotein lipase deficiency (LPLD) patient treated with alipogene tiparvovec, which is indicated for the treatment of patients with genetically confirmed LPLD suffering from acute and recurrent pancreatitis attacks (PAs) despite dietary restrictions and expressing >5% of lipoprotein lipase (LPL) mass compared to a healthy control. "
3.	Therapeutics 11/01/2023 - "Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency." 03/01/2014 - "The first gene replacement therapy for lipoprotein lipase deficiency has also been approved. " 11/01/2013 - "Extreme hypertriglyceridaemia requires strict dietary measures, and patients with a diagnosis of genetic lipoprotein lipase deficiency might benefit from LPL gene replacement therapy. " 07/01/1997 - "In summary, we describe a unique patient presenting with classical features of the familial chylomicronemia syndrome who manifests an unusually beneficial therapeutic response to MCT oil and omega-3-FA therapy. " 08/12/2022 - "Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report."
4.	Fat-Restricted Diet (Diet, Fat Restricted) 11/22/2021 - "The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study." 12/20/2004 - "Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: A case report." 03/01/2013 - "Lipoprotein abnormalities in compound heterozygous lipoprotein lipase deficiency after treatment with a low-fat diet and orlistat." 12/20/2004 - "CONCLUSIONS: An extremely low fat diet in combination with topical sunflower oil and gemfibrozil administration was safely implemented in pregnancy associated with the severe hypertriglyceridemia of lipoprotein lipase deficiency."
5.	Biliopancreatic Diversion 04/01/2011 - "11-Year follow-up in biliopancreatic diversion for recurrent pancreatitis due to lipoprotein lipase deficiency." 12/01/2015 - "A 19 year follow-up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion."