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Hypercholesterolaemia

MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
Synonyms: Elevated Cholesterol; Hypercholesteremia; Hypercholesteremias; Hypercholesterolemia; Hypercholesterolemias
SNOMED CT: Hypercholesterolemia (13644009); High cholesterol (13644009)
 

Definition

An increased concentration of cholesterol in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hypercholesterolaemia

Conditions with this feature

Glycogen storage disease type IXa1
MedGen UID:
42261
Concept ID:
C0017927
Disease or Syndrome
Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth retardation, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). Symptoms and biochemical abnormalities of liver PhK deficiency are thought to improve with age.
Familial hypercholesterolemia
MedGen UID:
5688
Concept ID:
C0020445
Disease or Syndrome
Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).
Familial type 3 hyperlipoproteinemia
MedGen UID:
9364
Concept ID:
C0020479
Disease or Syndrome
rather uncommon form of familial hyperlipemia characterized by the presence of lipoproteins of abnormal composition; the main abnormal lipoproteins are called beta-VLDL and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal VLDL.
Hyperlipoproteinemia, type I
MedGen UID:
7352
Concept ID:
C0023817
Disease or Syndrome
Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky ("lactescent" or "lipemic") appearance. Symptoms usually resolve with restriction of total dietary fat to =20 grams/day.
Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years.
Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects.
Lysosomal acid lipase deficiency
MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).
Sitosterolemia
MedGen UID:
87466
Concept ID:
C0342907
Pathologic Function
Sitosterolemia is characterized by: Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows and buttocks); Premature atherosclerosis which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation. The phenotypic spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that clinical findings in infants are likely to be highly dependent on diet.
Fredrickson type IIa hyperlipoproteinemia
MedGen UID:
152875
Concept ID:
C0745103
Disease or Syndrome
Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, and behavioral abnormalities. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory integration issues are frequently noted. Children and adults typically have inattention, distractibility, hyperactivity, impulsivity, maladaptive behaviors including frequent outbursts/temper tantrums, attention seeking, disobedience, aggression, toileting difficulties, and self-injurious behaviors (SIB) including self-hitting, self-biting, and/or skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. The finger lick and page flipping ("lick and flip") behavior may be less prevalent than initially reported. An underlying developmental asynchrony, specifically between intellectual functioning and emotional maturity, may also contribute to maladaptive behaviors in people with SMS.
Megalocornea mental retardation syndrome
MedGen UID:
162904
Concept ID:
C0796086
Disease or Syndrome
Megalocornea and iris anomalies accompanied by facial and skeletal defects, slow psychomotor development, hypotonia, and seizures. Later reports classify megalocornea-mental retardation syndrome into several types: Type 1 Synonym: Neuhauser syndrome With iris hypoplasia and minor abnormalities. Type 2 With camptodactyly, scoliosis, and growth retardation. Type 3 Synonym: Verloes type With macrocephaly, hypotonia, and other minor anomalies but no hypoplasia of the irides. Type 4 With megalocephaly,obesity, and normal irides.
Hypercholesterolemia, autosomal dominant, type B
MedGen UID:
309962
Concept ID:
C1704417
Disease or Syndrome
Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MedGen UID:
318680
Concept ID:
C1832662
Finding
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
MedGen UID:
326732
Concept ID:
C1840425
Disease or Syndrome
Coronary artery disease, autosomal dominant, 1
MedGen UID:
330802
Concept ID:
C1842247
Disease or Syndrome
Coronary artery disease (CAD) and its most important complication, acute myocardial infarction (MI), are leading causes of death and disability in the developed world. Multiple risk factors for CAD/MI have been identified, including family history, hypertension, hypercholesterolemia, obesity, smoking, and diabetes. Several genomewide scans of affected sib pairs have identified susceptibility loci for CAD, e.g., 607339 and 300464.
Lipodystrophy with congenital cataracts and neurodegeneration
MedGen UID:
339794
Concept ID:
C1847582
Disease or Syndrome
Ataxia with vitamin E deficiency
MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
Most individuals with ataxia with vitamin E deficiency (AVED) present at puberty; common characteristics of the disease include progressive ataxia, clumsiness of the hands, loss of proprioception (especially of vibration and joint position sense), and areflexia. Other features often observed are dysdiadochokinesia, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different mutations; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs.
Neonatal intrahepatic cholestasis caused by citrin deficiency
MedGen UID:
340091
Concept ID:
C1853942
Disease or Syndrome
Citrin deficiency can manifest in newborns as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by fondness for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. taba: NICCD. Children younger than age one year have growth retardation with transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. Although NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, some infants succumb to infection and liver cirrhosis and others require liver transplantation. FTTDCD. Around age one to two years, many children with citrin deficiency develop the food preferences mentioned. Some have growth retardation, hypoglycemia, and fatigue as well as hyperlipidemia, pancreatitis, fatty liver, and hepatoma. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Onset is sudden and usually between ages 11 and 79 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma; death can result from brain edema. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.
Adult onset ataxia with oculomotor apraxia
MedGen UID:
395301
Concept ID:
C1859598
Disease or Syndrome
Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed.
Apolipoprotein E, Deficiency or Defect of
MedGen UID:
350700
Concept ID:
C1862556
Disease or Syndrome
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
MedGen UID:
350701
Concept ID:
C1862557
Disease or Syndrome
Familial Hyperbeta- and Prebetalipoproteinemia
MedGen UID:
400080
Concept ID:
C1862558
Disease or Syndrome
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
MedGen UID:
354777
Concept ID:
C1862560
Disease or Syndrome
Broad-Betalipoproteinemia
MedGen UID:
400081
Concept ID:
C1862561
Disease or Syndrome
Floating-Betalipoproteinemia
MedGen UID:
350702
Concept ID:
C1862562
Disease or Syndrome
Coronary artery disease, severe, susceptibility to
MedGen UID:
349546
Concept ID:
C1862591
Finding
Hypercholesterolemia, autosomal recessive
MedGen UID:
400313
Concept ID:
C1863512
Disease or Syndrome
Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
Hypercholesterolemia, autosomal dominant, 3
MedGen UID:
355007
Concept ID:
C1863551
Disease or Syndrome
Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack.Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.
Xanthomatosis, susceptibility to
MedGen UID:
356066
Concept ID:
C1865704
Disease or Syndrome
Alagille syndrome 1
MedGen UID:
365434
Concept ID:
C1956125
Congenital Abnormality
Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.
Coronary artery disease, autosomal dominant 2
MedGen UID:
370259
Concept ID:
C1970440
Disease or Syndrome
Lipoprotein glomerulopathy
MedGen UID:
382034
Concept ID:
C2673196
Disease or Syndrome
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians.
Lipodystrophy, congenital generalized, type 3
MedGen UID:
436541
Concept ID:
C2675861
Disease or Syndrome
Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS; 606721), which is associated with heterozygous mutation in the CAV1 gene.
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
MedGen UID:
390957
Concept ID:
C2676098
Gene or Genome
Morbid obesity and spermatogenic failure
MedGen UID:
816654
Concept ID:
C3810324
Disease or Syndrome
APOE4(-)-FREIBURG PHENOTYPE
MedGen UID:
854548
Concept ID:
C3887714
Finding
ABDOMINAL OBESITY-METABOLIC SYNDROME 3
MedGen UID:
862798
Concept ID:
C4014361
Disease or Syndrome
TEMPLE SYNDROME
MedGen UID:
863995
Concept ID:
C4015558
Disease or Syndrome
APOE2 ISOFORMS
MedGen UID:
864295
Concept ID:
C4015858
Finding
HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
MedGen UID:
864296
Concept ID:
C4015859
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH
MedGen UID:
864297
Concept ID:
C4015860
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
MedGen UID:
864298
Concept ID:
C4015861
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY
MedGen UID:
864299
Concept ID:
C4015862
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE LEIDEN
MedGen UID:
864300
Concept ID:
C4015863
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7
MedGen UID:
864301
Concept ID:
C4015864
Finding
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT
MedGen UID:
864302
Concept ID:
C4015865
Finding
APOLIPOPROTEINEMIA E1
MedGen UID:
864303
Concept ID:
C4015866
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG
MedGen UID:
864304
Concept ID:
C4015867
Finding
DYSBETALIPOPROTEINEMIA DUE TO APOE2
MedGen UID:
864305
Concept ID:
C4015868
Finding
APOE2-DUNEDIN PHENOTYPE
MedGen UID:
864306
Concept ID:
C4015869
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA
MedGen UID:
864307
Concept ID:
C4015870
Finding
APOE3 ISOFORM
MedGen UID:
864308
Concept ID:
C4015871
Finding
ALZHEIMER DISEASE 2, DUE TO APOE4 ISOFORM
MedGen UID:
864309
Concept ID:
C4015872
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY, AUTOSOMAL RECESSIVE
MedGen UID:
864310
Concept ID:
C4015873
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA
MedGen UID:
864311
Concept ID:
C4015874
Finding
HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III
MedGen UID:
864312
Concept ID:
C4015875
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
MedGen UID:
864313
Concept ID:
C4015876
Finding
APOE3(-)-FREIBURG PHENOTYPE
MedGen UID:
864314
Concept ID:
C4015877
Finding
APOE4 VARIANT PHENOTYPE
MedGen UID:
864315
Concept ID:
C4015878
Finding
APOE3 VARIANT PHENOTYPE
MedGen UID:
864316
Concept ID:
C4015879
Finding
APOE2 VARIANT PHENOTYPE
MedGen UID:
864317
Concept ID:
C4015880
Finding
APOE4(+) PHENOTYPE
MedGen UID:
864318
Concept ID:
C4015881
Finding
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL RECESSIVE
MedGen UID:
865858
Concept ID:
C4017421
Finding
APOE-SUITA PHENOTYPE
MedGen UID:
865859
Concept ID:
C4017422
Finding
APOE3-WASHINGTON PHENOTYPE
MedGen UID:
865860
Concept ID:
C4017423
Finding
APOE3(-)-KOCHI PHENOTYPE
MedGen UID:
865861
Concept ID:
C4017424
Finding
APOE2-FUKUOKA PHENOTYPE
MedGen UID:
865862
Concept ID:
C4017425
Finding
APOE SENDAI PHENOTYPE
MedGen UID:
865863
Concept ID:
C4017426
Finding
APOE KYOTO PHENOTYPE
MedGen UID:
865864
Concept ID:
C4017427
Finding

Recent clinical studies

Etiology

Xie X, Song X, Yuan S, Cai H, Chen Y, Chang X, Liang B, Huang D
Clin Sci (Lond) 2015 Dec;129(12):1151-61. Epub 2015 Sep 22 doi: 10.1042/CS20150346. [Epub ahead of print] PMID: 26396259
Ryan A, Byrne CD
Curr Opin Lipidol 2015 Aug;26(4):298-303. doi: 10.1097/MOL.0000000000000196. PMID: 26103611
Kastelein JJ, Besseling J, Shah S, Bergeron J, Langslet G, Hovingh GK, Al-Saady N, Koeijvoets M, Hunter J, Johnson-Levonas AO, Fable J, Sapre A, Mitchel Y
Lancet 2015 May 30;385(9983):2153-61. Epub 2015 Mar 3 doi: 10.1016/S0140-6736(14)62115-2. [Epub ahead of print] PMID: 25743173
Weng SF, Kai J, Andrew Neil H, Humphries SE, Qureshi N
Atherosclerosis 2015 Feb;238(2):336-43. Epub 2014 Dec 20 doi: 10.1016/j.atherosclerosis.2014.12.034. [Epub ahead of print] PMID: 25555265
Nair DR, Sharifi M, Al-Rasadi K
Curr Opin Cardiol 2014 Jul;29(4):381-8. doi: 10.1097/HCO.0000000000000083. PMID: 24870549

Diagnosis

Martino F, Carlomosti F, Avitabile D, Persico L, Picozza M, Barillà F, Arca M, Montali A, Martino E, Zanoni C, Parrotto S, Magenta A
Clin Sci (Lond) 2015 Dec;129(11):963-72. Epub 2015 Jul 30 doi: 10.1042/CS20150235. [Epub ahead of print] PMID: 26229086
Reiner Ž
Curr Opin Lipidol 2015 Jun;26(3):215-20. doi: 10.1097/MOL.0000000000000178. PMID: 25943839
Kastelein JJ, Besseling J, Shah S, Bergeron J, Langslet G, Hovingh GK, Al-Saady N, Koeijvoets M, Hunter J, Johnson-Levonas AO, Fable J, Sapre A, Mitchel Y
Lancet 2015 May 30;385(9983):2153-61. Epub 2015 Mar 3 doi: 10.1016/S0140-6736(14)62115-2. [Epub ahead of print] PMID: 25743173
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia
Eur Heart J 2014 Aug 21;35(32):2146-57. Epub 2014 Jul 22 doi: 10.1093/eurheartj/ehu274. [Epub ahead of print] PMID: 25053660Free PMC Article
Nair DR, Sharifi M, Al-Rasadi K
Curr Opin Cardiol 2014 Jul;29(4):381-8. doi: 10.1097/HCO.0000000000000083. PMID: 24870549

Therapy

Tesoriere L, Attanzio A, Allegra M, Livrea MA
Br J Nutr 2015 Aug 14;114(3):368-75. Epub 2015 Jul 14 doi: 10.1017/S0007114515002111. [Epub ahead of print] PMID: 26169206
Kastelein JJ, Besseling J, Shah S, Bergeron J, Langslet G, Hovingh GK, Al-Saady N, Koeijvoets M, Hunter J, Johnson-Levonas AO, Fable J, Sapre A, Mitchel Y
Lancet 2015 May 30;385(9983):2153-61. Epub 2015 Mar 3 doi: 10.1016/S0140-6736(14)62115-2. [Epub ahead of print] PMID: 25743173
Weng SF, Kai J, Andrew Neil H, Humphries SE, Qureshi N
Atherosclerosis 2015 Feb;238(2):336-43. Epub 2014 Dec 20 doi: 10.1016/j.atherosclerosis.2014.12.034. [Epub ahead of print] PMID: 25555265
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia
Eur Heart J 2014 Aug 21;35(32):2146-57. Epub 2014 Jul 22 doi: 10.1093/eurheartj/ehu274. [Epub ahead of print] PMID: 25053660Free PMC Article
Nair DR, Sharifi M, Al-Rasadi K
Curr Opin Cardiol 2014 Jul;29(4):381-8. doi: 10.1097/HCO.0000000000000083. PMID: 24870549

Prognosis

Martino F, Carlomosti F, Avitabile D, Persico L, Picozza M, Barillà F, Arca M, Montali A, Martino E, Zanoni C, Parrotto S, Magenta A
Clin Sci (Lond) 2015 Dec;129(11):963-72. Epub 2015 Jul 30 doi: 10.1042/CS20150235. [Epub ahead of print] PMID: 26229086
Haralambos K, Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DB, McDowell IF
Atherosclerosis 2015 May;240(1):190-6. Epub 2015 Mar 6 doi: 10.1016/j.atherosclerosis.2015.03.003. [Epub ahead of print] PMID: 25797312
Weng SF, Kai J, Andrew Neil H, Humphries SE, Qureshi N
Atherosclerosis 2015 Feb;238(2):336-43. Epub 2014 Dec 20 doi: 10.1016/j.atherosclerosis.2014.12.034. [Epub ahead of print] PMID: 25555265
Vongpromek R, Bos S, Ten Kate GJ, Yahya R, Verhoeven AJ, de Feyter PJ, Kronenberg F, Roeters van Lennep JE, Sijbrands EJ, Mulder MT
J Intern Med 2015 Aug;278(2):166-73. Epub 2015 Jan 5 doi: 10.1111/joim.12335. [Epub ahead of print] PMID: 25487646
Elis A, Zhou R, Stein EA
Cardiol Young 2014 Jun;24(3):437-41. Epub 2013 May 10 doi: 10.1017/S1047951113000528. [Epub ahead of print] PMID: 23659280

Clinical prediction guides

Xie X, Song X, Yuan S, Cai H, Chen Y, Chang X, Liang B, Huang D
Clin Sci (Lond) 2015 Dec;129(12):1151-61. Epub 2015 Sep 22 doi: 10.1042/CS20150346. [Epub ahead of print] PMID: 26396259
Prescrire Int 2015 Jul;24(162):176-8. PMID: 26240881
Martino F, Carlomosti F, Avitabile D, Persico L, Picozza M, Barillà F, Arca M, Montali A, Martino E, Zanoni C, Parrotto S, Magenta A
Clin Sci (Lond) 2015 Dec;129(11):963-72. Epub 2015 Jul 30 doi: 10.1042/CS20150235. [Epub ahead of print] PMID: 26229086
Haralambos K, Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DB, McDowell IF
Atherosclerosis 2015 May;240(1):190-6. Epub 2015 Mar 6 doi: 10.1016/j.atherosclerosis.2015.03.003. [Epub ahead of print] PMID: 25797312
Weng SF, Kai J, Andrew Neil H, Humphries SE, Qureshi N
Atherosclerosis 2015 Feb;238(2):336-43. Epub 2014 Dec 20 doi: 10.1016/j.atherosclerosis.2014.12.034. [Epub ahead of print] PMID: 25555265

Recent systematic reviews

Stefanutti C, Blom DJ, Averna MR, Meagher EA, Theron Hd, Marais AD, Hegele RA, Sirtori CR, Shah PK, Gaudet D, Vigna GB, Sachais BS, Di Giacomo S, du Plessis AM, Bloedon LT, Balser J, Rader DJ, Cuchel M; Phase 3 HoFH Lomitapide Study Investigators
Atherosclerosis 2015 Jun;240(2):408-14. Epub 2015 Mar 14 doi: 10.1016/j.atherosclerosis.2015.03.014. [Epub ahead of print] PMID: 25897792Free PMC Article
Luo L, Yuan X, Huang W, Ren F, Zhu H, Zheng Y, Tang L
Intern Med J 2015 May;45(5):546-57. doi: 10.1111/imj.12706. PMID: 25644680
Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ; International Familial Hypercholesterolemia Foundation
Eur J Prev Cardiol 2015 Jul;22(7):849-54. Epub 2014 Apr 28 doi: 10.1177/2047487314533218. [Epub ahead of print] PMID: 24776375
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia
Eur Heart J 2014 Aug 21;35(32):2146-57. Epub 2014 Jul 22 doi: 10.1093/eurheartj/ehu274. [Epub ahead of print] PMID: 25053660Free PMC Article
Malhotra A, Shafiq N, Arora A, Singh M, Kumar R, Malhotra S
Cochrane Database Syst Rev 2014 Jun 10;6:CD001918. doi: 10.1002/14651858.CD001918.pub3. PMID: 24913720

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