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Sitosterolemia 2(STSL2)

MedGen UID:
1684715
Concept ID:
C5231453
Disease or Syndrome
Synonyms: SITOSTEROLEMIA 2; STSL2
 
Gene (location): ABCG5 (2p21)
 
Monarch Initiative: MONDO:0020748
OMIM®: 618666

Definition

Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by Berge et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see 210250. [from OMIM]

Clinical features

From HPO
Premature coronary artery atherosclerosis
MedGen UID:
356830
Concept ID:
C1867743
Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
Tendon xanthomatosis
MedGen UID:
450999
Concept ID:
C0221253
Disease or Syndrome
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Hypercholesterolemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Elevated circulating sitosterol concentration
MedGen UID:
1789149
Concept ID:
C5539528
Finding
An increased concentration of beta-sitosterol in the blood circulation.

Professional guidelines

PubMed

Brown EE, Sturm AC, Cuchel M, Braun LT, Duell PB, Underberg JA, Jacobson TA, Hegele RA
J Clin Lipidol 2020 Jul-Aug;14(4):398-413. Epub 2020 May 7 doi: 10.1016/j.jacl.2020.04.011. PMID: 32507592
Zanlungo S, Nervi F
Eur Rev Med Pharmacol Sci 2003 Mar-Apr;7(2):33-9. PMID: 12911117
Moghadasian MH, Frohlich JJ, Saleem M, Hong JM, Qayumi K, Scudamore CH
J Invest Surg 2001 Mar-Apr;14(2):71-8. doi: 10.1080/08941930152024183. PMID: 11396622

Recent clinical studies

Etiology

Windler E, Beil FU, Berthold HK, Gouni-Berthold I, Kassner U, Klose G, Lorkowski S, März W, Parhofer KG, Plat J, Silbernagel G, Steinhagen-Thiessen E, Weingärtner O, Zyriax BC, Lütjohann D
Nutrients 2023 Feb 6;15(4) doi: 10.3390/nu15040828. PMID: 36839186Free PMC Article
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
Fong V, Patel SB
Curr Opin Lipidol 2021 Apr 1;32(2):117-122. doi: 10.1097/MOL.0000000000000734. PMID: 33395105Free PMC Article
Tao C, Shkumatov AA, Alexander ST, Ason BL, Zhou M
Commun Biol 2019;2:20. Epub 2019 Jan 16 doi: 10.1038/s42003-018-0245-x. PMID: 30675518Free PMC Article
Brinton EA, Hopkins PN, Hegele RA, Geller AS, Polisecki EY, Diffenderfer MR, Schaefer EJ
J Clin Lipidol 2018 Jan-Feb;12(1):152-161. Epub 2017 Oct 27 doi: 10.1016/j.jacl.2017.10.013. PMID: 29169939

Diagnosis

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
Loh WJ, Watts GF
Endocrinol Metab Clin North Am 2022 Sep;51(3):511-537. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.006. PMID: 35963626
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
Gao B, Luo Y, He Y, Huang J, Wen X
J Clin Lipidol 2021 Jul-Aug;15(4):574-578. Epub 2021 May 21 doi: 10.1016/j.jacl.2021.05.001. PMID: 34344629
Harper K, Bagot CN, Leach M
Br J Haematol 2019 Oct;187(2):137. Epub 2019 Jul 8 doi: 10.1111/bjh.16076. PMID: 31282987

Therapy

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
Harper K, Bagot CN, Leach M
Br J Haematol 2019 Oct;187(2):137. Epub 2019 Jul 8 doi: 10.1111/bjh.16076. PMID: 31282987
Tao C, Shkumatov AA, Alexander ST, Ason BL, Zhou M
Commun Biol 2019;2:20. Epub 2019 Jan 16 doi: 10.1038/s42003-018-0245-x. PMID: 30675518Free PMC Article
Darkes MJ, Poole RM, Goa KL
Am J Cardiovasc Drugs 2003;3(1):67-76; discussion 77-8. doi: 10.2165/00129784-200303010-00007. PMID: 14727947

Prognosis

Gandhi GD, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, Kohailan M, Alenbawi J, Elanbari M; Qatar Genome Program Research Consortium (QGPRC), Mifsud B, Mokrab Y, Abi Khalil C, Fakhro KA
J Transl Med 2022 Nov 3;20(1):502. doi: 10.1186/s12967-022-03697-w. PMID: 36329474Free PMC Article
Kojima N, Tada H, Usui S, Sakata K, Hayashi K, Nohara A, Inazu A, Takamura M, Kawashiri MA
Clin Chim Acta 2020 Aug;507:11-16. Epub 2020 Apr 8 doi: 10.1016/j.cca.2020.04.003. PMID: 32275988
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
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
Shulenin S, Schriml LM, Remaley AT, Fojo S, Brewer B, Allikmets R, Dean M
Cytogenet Cell Genet 2001;92(3-4):204-8. doi: 10.1159/000056903. PMID: 11435688

Clinical prediction guides

Terasaki M, Izumi M, Yamagishi SI
Int J Mol Sci 2024 Jan 26;25(3) doi: 10.3390/ijms25031535. PMID: 38338819Free PMC Article
Windler E, Beil FU, Berthold HK, Gouni-Berthold I, Kassner U, Klose G, Lorkowski S, März W, Parhofer KG, Plat J, Silbernagel G, Steinhagen-Thiessen E, Weingärtner O, Zyriax BC, Lütjohann D
Nutrients 2023 Feb 6;15(4) doi: 10.3390/nu15040828. PMID: 36839186Free PMC Article
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
Huang D, Zhou Q, Chao YQ, Zou CC
Medicine (Baltimore) 2019 Apr;98(15):e15013. doi: 10.1097/MD.0000000000015013. PMID: 30985648Free PMC Article

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