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Sitosterolemia

A hereditary autosomal recessive disorder that is characterized by the unregulated intestinal absorption of both CHOLESTEROL and PHYTOSTEROLS. Patients have very high plasma levels of phytosterols and develop XANTHOMA at tendons and joints (tuberous xanthoma), ATHEROSCLEROSIS, and premature CORONARY ARTERY DISEASE. Mutations in the ABCG5 and ABCG8 genes have been identified. OMIM: 210250
Also Known As:
Macrothrombocytopenia-Stomatocytosis, Mediterranean; Phytosterolemia; Plant sterol storage disease; Pseudohomozygous familial hypercholesterolemia
Networked: 285 relevant articles (13 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Rare Diseases (Rare Disease)
2. Atherosclerosis
3. Hypercholesterolemia
4. Inborn Genetic Diseases (Disease, Hereditary)
5. Homozygous Familial Hypercholesterolemia

Experts

1. Tada, Hayato: 16 articles (05/2022 - 12/2017)
2. Patel, Shailendra B: 15 articles (01/2021 - 03/2004)
3. Kawashiri, Masa-Aki: 11 articles (05/2022 - 08/2018)
4. Cohen, Jonathan C: 9 articles (02/2015 - 03/2002)
5. Hobbs, Helen H: 9 articles (02/2015 - 03/2002)
6. von Bergmann, Klaus: 8 articles (07/2005 - 03/2002)
7. Nomura, Akihiro: 7 articles (08/2021 - 08/2018)
8. Steiner, Robert D: 7 articles (07/2021 - 01/2010)
9. Myrie, Semone B: 7 articles (11/2020 - 04/2012)
10. Mymin, David: 7 articles (01/2020 - 12/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sitosterolemia:
1. Phytosterols (Plant Sterols)IBA
2. CholesterolIBA
3. SterolsIBA
4. Ezetimibe (Zetia)FDA Link
5. LipidsIBA
6. gamma-sitosterol (beta-sitosterol)IBA
7. oxidized low density lipoproteinIBA
8. Cholestyramine Resin (Questran)FDA LinkGeneric
9. Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
10. LDL CholesterolIBA

Therapies and Procedures

1. Therapeutics
2. Diet Therapy (Therapy, Diet)
3. Drug Therapy (Chemotherapy)
4. Parenteral Nutrition
5. Blood Component Removal (Apheresis)