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Sitosterolemia(STSL)

MedGen UID:
87466
Concept ID:
C0342907
Congenital Abnormality
Synonyms: Phytosterolemia; Plant sterol storage disease; Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body; STSL
SNOMED CT: Sitosterolemia (238104009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0008863
OMIM®: 210250
OMIM® Phenotypic series: PS210250
Orphanet: ORPHA2882

Disease characteristics

Excerpted from the GeneReview: Sitosterolemia
Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; 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 or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet. [from GeneReviews]
Authors:
Semone B Myrie  |  Robert D Steiner  |  David Mymin   view full author information

Additional description

From MedlinePlus Genetics
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children. However, some people with sitosterolemia have normal cholesterol levels.

Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia may begin to appear early in life after foods containing plant sterols are introduced into the diet, although some affected individuals have no obvious symptoms.

In people with sitosterolemia, accumulation of fatty deposits in arteries (atherosclerosis) can occur as early as childhood. These deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death.

Some people with sitosterolemia develop small yellowish growths called xanthomas beginning in childhood. Xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems.

Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia).  https://medlineplus.gov/genetics/condition/sitosterolemia

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Sitosterolemia in Orphanet.

Professional guidelines

PubMed

Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, Tsukamoto K, Dobashi K, Nakamura K, Hori M, Matsuki K, Yamashita S, Yokoyama S, Kawashiri MA, Harada-Shiba M
J Atheroscler Thromb 2021 Aug 1;28(8):791-801. Epub 2021 Apr 28 doi: 10.5551/jat.RV17052. PMID: 33907061Free PMC Article
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603

Recent clinical studies

Therapy

Rocha VZ, Tada MT, Chacra APM, Miname MH, Mizuta MH
Curr Atheroscler Rep 2023 May;25(5):181-187. Epub 2023 Mar 10 doi: 10.1007/s11883-023-01092-4. PMID: 36897412
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526Free PMC Article
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, Tsukamoto K, Dobashi K, Nakamura K, Hori M, Matsuki K, Yamashita S, Yokoyama S, Kawashiri MA, Harada-Shiba M
J Atheroscler Thromb 2021 Aug 1;28(8):791-801. Epub 2021 Apr 28 doi: 10.5551/jat.RV17052. PMID: 33907061Free PMC Article
Salen G, Patel S, Batta AK
Cardiovasc Drug Rev 2002 Winter;20(4):255-70. doi: 10.1111/j.1527-3466.2002.tb00096.x. PMID: 12481199

Prognosis

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Tada H, Nomura A, Nohara A, Inazu A, Mabuchi H, Yamagishi M, Kawashiri MA
J Atheroscler Thromb 2018 Dec 1;25(12):1188-1195. Epub 2018 Jul 12 doi: 10.5551/jat.44768. PMID: 29998912Free PMC Article
Nomura A, Tada H, Nohara A, Kawashiri MA, Yamagishi M
J Atheroscler Thromb 2018 Aug 1;25(8):741-746. Epub 2018 Jan 20 doi: 10.5551/jat.42960. PMID: 29353827Free PMC Article
Patel MD, Thompson PD
Atherosclerosis 2006 May;186(1):12-9. Epub 2005 Dec 2 doi: 10.1016/j.atherosclerosis.2005.10.026. PMID: 16325823
Klett EL, Patel S
Curr Opin Lipidol 2003 Aug;14(4):341-5. doi: 10.1097/01.mol.0000083763.66245.18. PMID: 12865730Free PMC Article

Clinical prediction guides

Loh WJ, Watts GF
Curr Opin Endocrinol Diabetes Obes 2023 Apr 1;30(2):123-127. Epub 2022 Dec 29 doi: 10.1097/MED.0000000000000795. PMID: 36597814
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526Free PMC Article
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K, Tsukamoto K, Dobashi K, Nakamura K, Hori M, Matsuki K, Yamashita S, Yokoyama S, Kawashiri MA, Harada-Shiba M
J Atheroscler Thromb 2021 Aug 1;28(8):791-801. Epub 2021 Apr 28 doi: 10.5551/jat.RV17052. PMID: 33907061Free PMC Article
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article

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