Details of Disease

General Information of Disease (ID: DIS0M7NJ)

• Disease Name: Familial lipoprotein lipase deficiency
• Synonyms: hyperlipoproteinemia, type 1A; hyperchylomicronemia, familial; lipoprotein lipase deficiency, familial; chylomicronemia, familial; hyperlipemia, idiopathic, Burger-Grutz type; type I hyperlipoproteinemia; hyperlipemia, essential familial; endogenous hypertriglyceridaemia; Burger-Grutz syndrome; lipd deficiency; familial fat-induced hypertriglyceridemia; lipoprotein lipase deficiency; familial hyperchylomicronemia; hyperlipoproteinemia, type 1; lipase D deficiency; hyperlipoproteinemia, type I; familial lipoprotein lipase deficiency with type I phenotype; mixed hyperglyceridemia; high density lipoprotein cholesterol level QTL 11; familial chylomiconemia syndrome; familial hyperlipoproteinemia type I; Fredrickson type I hyperlipoproteinemia; hypercholesterinaemic xanthomatosis; Fredrickson type I lipaemia; LPL deficiency; hyperlipoproteinemia type I; hyperchylomicronemia; familial lipoprotein lipase deficiency (disorder) [ambiguous]; familial LPL deficiency
• Definition: Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.
• Disease Hierarchy:
  DISVBLBO: Hyperlipoproteinemia
  DISPGGVL: Syndromic dyslipidemia
  DIS4R2OG: Hyperlipidaemia
  DISFZN9R: Familial chylomicronemia syndrome
  DIS0M7NJ: Familial lipoprotein lipase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009387
  MESH ID: D008072
  UMLS CUI: C0023817
  OMIM ID: 238600
  MedGen ID: 7352
  Orphanet ID: 309015
  SNOMED CT ID: 267435002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOL1	TTDB8PW	Strong	Genetic Variation	[1]
DGAT1	TT0GV3R	Strong	Biomarker	[2]
LCAT	TTGZ91P	Strong	Biomarker	[3]
ANGPTL3	TT59GO7	Definitive	Biomarker	[4]
APOB	TTN1IE2	Definitive	Genetic Variation	[5]
APOC3	TTXOZQ1	Definitive	Biomarker	[6]
LPL	TTOF3WZ	Definitive	Autosomal recessive	[7]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMT	OTQYEWZQ	Limited	Genetic Variation	[8]
APOA5	OTEVKLVA	Strong	Genetic Variation	[9]
APOC2	OTLINYIQ	Strong	Genetic Variation	[10]
GPIHBP1	OTDF8R2M	Strong	Genetic Variation	[11]
LMF1	OTOL14ZD	Strong	Genetic Variation	[12]
HDLBP	OTKDEEYX	Definitive	Genetic Variation	[13]
LPL	OTTW0267	Definitive	Autosomal recessive	[7]
SACS	OTZGXQ8A	Definitive	Altered Expression	[14]

References

• [1] Distribution and effect of apoL-I genotype on plasma lipid and apolipoprotein levels in Chinese normalipidemic and endogenous hypertriglyceridemic subjects.Clin Chim Acta. 2009 May;403(1-2):152-5. doi: 10.1016/j.cca.2009.02.007. Epub 2009 Feb 21.
• [2] Pradigastat disposition in humans: in vivo and in vitro investigations. Xenobiotica. 2017 Dec;47(12):1077-1089.
• [3] Genetics and metabolism of lipoprotein(a) and their clinical implications (Part 1).Wien Klin Wochenschr. 1999 Jan 15;111(1):5-20.
• [4] Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia.J Intern Med. 2020 Apr;287(4):340-348. doi: 10.1111/joim.13016. Epub 2020 Jan 8.
• [5] Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.J Clin Lipidol. 2017 Nov-Dec;11(6):1329-1337.e3. doi: 10.1016/j.jacl.2017.08.017. Epub 2017 Sep 4.
• [6] Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study.J Clin Lipidol. 2018 Sep-Oct;12(5):1234-1243.e5. doi: 10.1016/j.jacl.2018.05.013. Epub 2018 May 31.
• [7] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [8] Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency.Drugs. 2015 Feb;75(2):175-82. doi: 10.1007/s40265-014-0339-9.
• [9] Clinical whole exome sequencing in severe hypertriglyceridemia.Clin Chim Acta. 2019 Jan;488:31-39. doi: 10.1016/j.cca.2018.10.041. Epub 2018 Oct 30.
• [10] Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.J Pediatr Endocrinol Metab. 2018 Nov 27;31(11):1289-1293. doi: 10.1515/jpem-2018-0280.
• [11] A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.J Clin Lipidol. 2018 Mar-Apr;12(2):506-510. doi: 10.1016/j.jacl.2018.01.011. Epub 2018 Jan 31.
• [12] New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.J Clin Lipidol. 2018 Sep-Oct;12(5):1244-1252. doi: 10.1016/j.jacl.2018.06.018. Epub 2018 Jul 7.
• [13] Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.J Atheroscler Thromb. 2013;20(10):777-84. doi: 10.5551/jat.18861. Epub 2013 Jul 8.
• [14] Human genetics: lessons from Quebec populations.Annu Rev Genomics Hum Genet. 2001;2:69-101. doi: 10.1146/annurev.genom.2.1.69.