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Decreased LDL cholesterol concentration

MedGen UID:
776554
Concept ID:
C0853085
Finding
Synonym: Low LDL
 
HPO: HP:0003563

Definition

An decreased concentration of low-density lipoprotein cholesterol in the blood. [from HPO]

Conditions with this feature

Familial type 5 hyperlipoproteinemia
MedGen UID:
5693
Concept ID:
C0020481
Disease or Syndrome
A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.
Chylomicron retention disease
MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
MedGen UID:
337612
Concept ID:
C1846582
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
Familial hypobetalipoproteinemia 2
MedGen UID:
341895
Concept ID:
C1857970
Disease or Syndrome
Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; 246700), abetalipoproteinemia (200100), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012). For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (615558).
Hypercholesterolemia, familial, 4
MedGen UID:
400313
Concept ID:
C1863512
Disease or Syndrome
Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.
Apolipoprotein c-III deficiency
MedGen UID:
462817
Concept ID:
C3151467
Disease or Syndrome
Hyperlipoproteinemia, type 1D
MedGen UID:
863204
Concept ID:
C4014767
Disease or Syndrome
Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013). For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600.
Familial hypobetalipoproteinemia 1
MedGen UID:
1639219
Concept ID:
C4551990
Disease or Syndrome
Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely.
Squalene synthase deficiency
MedGen UID:
1648421
Concept ID:
C4748427
Disease or Syndrome
Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay / intellectual disability, dry skin with photosensitivity, and genital malformations in males.
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
MedGen UID:
1798933
Concept ID:
C5567510
Disease or Syndrome
Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).
Combined low LDL and fibrinogen
MedGen UID:
1841120
Concept ID:
C5830484
Finding

Professional guidelines

PubMed

Vinci P, Di Girolamo FG, Panizon E, Tosoni LM, Cerrato C, Pellicori F, Altamura N, Pirulli A, Zaccari M, Biasinutto C, Roni C, Fiotti N, Schincariol P, Mangogna A, Biolo G
Int J Environ Res Public Health 2023 Sep 6;20(18) doi: 10.3390/ijerph20186721. PMID: 37754581Free PMC Article
Backes J, Anzalone D, Hilleman D, Catini J
Lipids Health Dis 2016 Jul 22;15(1):118. doi: 10.1186/s12944-016-0286-4. PMID: 27444154Free PMC Article
Gotto AM Jr
Am J Cardiol 1986 May 30;57(14):11G-16G. doi: 10.1016/0002-9149(86)90660-0. PMID: 3521247

Recent clinical studies

Etiology

Kronenberg F
Handb Exp Pharmacol 2022;270:201-232. doi: 10.1007/164_2021_504. PMID: 34196811
Alloubani A, Nimer R, Samara R
Curr Cardiol Rev 2021;17(6):e051121189015. doi: 10.2174/1573403X16999201210200342. PMID: 33305711Free PMC Article
Pedro-Botet J, Pintó X
Clin Investig Arterioscler 2019 Dec;31 Suppl 2:16-27. Epub 2019 Dec 6 doi: 10.1016/j.arteri.2019.10.003. PMID: 31813618
Zhang YY, Fu ZY, Wei J, Qi W, Baituola G, Luo J, Meng YJ, Guo SY, Yin H, Jiang SY, Li YF, Miao HH, Liu Y, Wang Y, Li BL, Ma YT, Song BL
Science 2018 Jun 8;360(6393):1087-1092. doi: 10.1126/science.aao6575. PMID: 29880681
Fitzgerald K, Frank-Kamenetsky M, Shulga-Morskaya S, Liebow A, Bettencourt BR, Sutherland JE, Hutabarat RM, Clausen VA, Karsten V, Cehelsky J, Nochur SV, Kotelianski V, Horton J, Mant T, Chiesa J, Ritter J, Munisamy M, Vaishnaw AK, Gollob JA, Simon A
Lancet 2014 Jan 4;383(9911):60-68. Epub 2013 Oct 3 doi: 10.1016/S0140-6736(13)61914-5. PMID: 24094767Free PMC Article

Diagnosis

Myasoedova VA, Rimbert A, Camera M, Le May C, Capoulade R, Cariou B, Poggio P
Eur Heart J Cardiovasc Pharmacother 2023 Jun 2;9(4):337-342. doi: 10.1093/ehjcvp/pvad009. PMID: 36722156Free PMC Article
Wang S, Ren H, Zhong H, Zhao X, Li C, Ma J, Gu X, Xue Y, Huang S, Yang J, Chen L, Chen G, Qu S, Liang J, Qin L, Huang Q, Peng Y, Li Q, Wang X, Zou Y, Shi Z, Li X, Li T, Yang H, Lai S, Xu G, Li J, Zhang Y, Gu Y, Wang W
Gut Microbes 2022 Jan-Dec;14(1):2003176. doi: 10.1080/19490976.2021.2003176. PMID: 34923903Free PMC Article
Xu D, Feng M, Chu Y, Wang S, Shete V, Tuohy KM, Liu F, Zhou X, Kamil A, Pan D, Liu H, Yang X, Yang C, Zhu B, Lv N, Xiong Q, Wang X, Sun J, Sun G, Yang Y
Front Immunol 2021;12:787797. Epub 2021 Dec 9 doi: 10.3389/fimmu.2021.787797. PMID: 34956218Free PMC Article
Wu L, Parhofer KG
Metabolism 2014 Dec;63(12):1469-79. Epub 2014 Aug 29 doi: 10.1016/j.metabol.2014.08.010. PMID: 25242435
Barnard ND, Cohen J, Jenkins DJ, Turner-McGrievy G, Gloede L, Green A, Ferdowsian H
Am J Clin Nutr 2009 May;89(5):1588S-1596S. Epub 2009 Apr 1 doi: 10.3945/ajcn.2009.26736H. PMID: 19339401Free PMC Article

Therapy

Kronenberg F
Handb Exp Pharmacol 2022;270:201-232. doi: 10.1007/164_2021_504. PMID: 34196811
Hadi A, Pourmasoumi M, Najafgholizadeh A, Clark CCT, Esmaillzadeh A
BMC Complement Med Ther 2021 Jun 29;21(1):179. doi: 10.1186/s12906-021-03351-w. PMID: 34187442Free PMC Article
Pedro-Botet J, Pintó X
Clin Investig Arterioscler 2019 Dec;31 Suppl 2:16-27. Epub 2019 Dec 6 doi: 10.1016/j.arteri.2019.10.003. PMID: 31813618
Gencer B, Kronenberg F, Stroes ES, Mach F
Eur Heart J 2017 May 21;38(20):1553-1560. doi: 10.1093/eurheartj/ehx033. PMID: 28329241
Fitzgerald K, Frank-Kamenetsky M, Shulga-Morskaya S, Liebow A, Bettencourt BR, Sutherland JE, Hutabarat RM, Clausen VA, Karsten V, Cehelsky J, Nochur SV, Kotelianski V, Horton J, Mant T, Chiesa J, Ritter J, Munisamy M, Vaishnaw AK, Gollob JA, Simon A
Lancet 2014 Jan 4;383(9911):60-68. Epub 2013 Oct 3 doi: 10.1016/S0140-6736(13)61914-5. PMID: 24094767Free PMC Article

Prognosis

Zhang X, Geng T, Li N, Wu L, Wang Y, Zheng D, Guo B, Wang B
Nutrients 2022 Dec 23;15(1) doi: 10.3390/nu15010069. PMID: 36615727Free PMC Article
Julius U, Schatz U, Tselmin S, Morawietz H
Horm Metab Res 2022 Aug;54(8):514-521. Epub 2022 Jul 14 doi: 10.1055/a-1860-2610. PMID: 35835148
Alloubani A, Nimer R, Samara R
Curr Cardiol Rev 2021;17(6):e051121189015. doi: 10.2174/1573403X16999201210200342. PMID: 33305711Free PMC Article
Pillinger T, McCutcheon RA, Vano L, Mizuno Y, Arumuham A, Hindley G, Beck K, Natesan S, Efthimiou O, Cipriani A, Howes OD
Lancet Psychiatry 2020 Jan;7(1):64-77. Epub 2019 Dec 17 doi: 10.1016/S2215-0366(19)30416-X. PMID: 31860457Free PMC Article
Cornish AJ, Law PJ, Timofeeva M, Palin K, Farrington SM, Palles C, Jenkins MA, Casey G, Brenner H, Chang-Claude J, Hoffmeister M, Kirac I, Maughan T, Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Dunlop MG, Houlston RS
Lancet Gastroenterol Hepatol 2020 Jan;5(1):55-62. Epub 2019 Oct 24 doi: 10.1016/S2468-1253(19)30294-8. PMID: 31668584Free PMC Article

Clinical prediction guides

Parhofer KG
Curr Opin Endocrinol Diabetes Obes 2022 Apr 1;29(2):106-111. doi: 10.1097/MED.0000000000000714. PMID: 35045528
Kronenberg F
Handb Exp Pharmacol 2022;270:201-232. doi: 10.1007/164_2021_504. PMID: 34196811
Alloubani A, Nimer R, Samara R
Curr Cardiol Rev 2021;17(6):e051121189015. doi: 10.2174/1573403X16999201210200342. PMID: 33305711Free PMC Article
Pedro-Botet J, Pintó X
Clin Investig Arterioscler 2019 Dec;31 Suppl 2:16-27. Epub 2019 Dec 6 doi: 10.1016/j.arteri.2019.10.003. PMID: 31813618
Waldmann E, Parhofer KG
Pathology 2019 Feb;51(2):227-232. Epub 2019 Jan 2 doi: 10.1016/j.pathol.2018.10.016. PMID: 30611543

Recent systematic reviews

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Hadi A, Pourmasoumi M, Najafgholizadeh A, Clark CCT, Esmaillzadeh A
BMC Complement Med Ther 2021 Jun 29;21(1):179. doi: 10.1186/s12906-021-03351-w. PMID: 34187442Free PMC Article
Alloubani A, Nimer R, Samara R
Curr Cardiol Rev 2021;17(6):e051121189015. doi: 10.2174/1573403X16999201210200342. PMID: 33305711Free PMC Article
Pillinger T, McCutcheon RA, Vano L, Mizuno Y, Arumuham A, Hindley G, Beck K, Natesan S, Efthimiou O, Cipriani A, Howes OD
Lancet Psychiatry 2020 Jan;7(1):64-77. Epub 2019 Dec 17 doi: 10.1016/S2215-0366(19)30416-X. PMID: 31860457Free PMC Article
Li L, Lietz G, Seal C
Nutrients 2018 May 15;10(5) doi: 10.3390/nu10050619. PMID: 29762481Free PMC Article

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