Sitosterolemia
| Classification according to ICD-10 | |
|---|---|
| E78.5 | Hyperlipidemia, unspecified |
| ICD-10 online (WHO version 2019) | |
The sitosterolemia is a rare congenital lipid metabolism disorder , which is for the enrichment of phytosterols comes in various tissues of the body. The disease is one of the rare diseases (orphan diseases).
pathology
Only a small portion of the ingested with food plant sterols ( phytosterols ) is in the digestive tract absorbed . Normally, most of these phytosterols, including sitosterol , stigmasterol and campesterol , are excreted back into the intestinal lumen via the ABC transporters ABCG5 and ABCG8 . This mechanism limits the absorption of exogenous phytosterols from the intestine. The small amount of phytosterols that gets into the blood is eliminated by the liver .
Through autosomal recessive inherited mutations in the genes coding for the ABC transporters , the excretion of phytosterols from the mucosal cells into the intestinal lumen is reduced. For unknown reasons, the excretion of phytosterols by the liver is reduced, as is the cholesterol biosynthesis. The blood plasma level of sitosterols rises sharply due to the elimination disorder and promotes early arteriosclerosis .
Clinical picture
As part of the lipid metabolism disorder, fat is deposited in the skin and tendons ( xanthomas ). Furthermore, can the joint pain , arthritis and angina occur.
Epidemiology
Sitosterolaemia is a rare disease (orphan disease). So far (as of November 2011) 40 cases have been described. The number of people affected is likely to be greater, especially since the clinical picture can be misdiagnosed as hyperlipidemia .
therapy
Treatment with ezetimibe lowers phytosterol levels. The active ingredient has been approved for this indication in the USA since 2002. A restrictive diet with a greatly reduced intake of phytosterols may be indicated.
forecast
People suffering from sitosterolemia have a significantly higher risk of dying prematurely as a result of coronary artery disease (CHD) such as a heart attack .
Research history
The disease was first described in 1974.
The disease used to be known as Mediterranean Macrothrombocytopenia because of the macrothrombocytopenia present .
literature
- K. Tsubakio-Yamamoto, M. Nishida, Y. Nakagawa-Toyama, D. Masuda, T. Ohama, S. Yamashita: Current therapy for patients with sitosterolemia – effect of ezetimibe on plant sterol metabolism. In: Journal of atherosclerosis and thrombosis. Volume 17, Number 9, September 2010, pp. 891-900, ISSN 1880-3873 . PMID 20543520 . (Review).
- SE Hazard, SB Patel: Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols. In: Pflügers Archive - European Journal of Physiology . Volume 453, Number 5, February 2007, pp. 745-752, ISSN 0031-6768 . doi: 10.1007 / s00424-005-0040-7 . PMID 16440216 . PMC 1785388 (free full text). (Review).
- KE Berge, H. Tian, GA Graf, L. Yu, NV Grishin, J. Schultz, P. Kwiterovich, B. Shan, R. Barnes, HH Hobbs: Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. In: Science . Volume 290, Number 5497, December 2000, pp. 1771-1775, ISSN 0036-8075 . PMID 11099417 .
Web links
- Sitosterolemia. In: Orphanet (Rare Disease Database).
- Robert D. Steiner: Sitosterolemia . In: Medcape . (English)
Individual evidence
- ↑ Orphanet: Prevalence of Rare Diseases. No. 1, November 2011. (online, PDF file; 440 kB)
- ↑ Robert D. Steiner: Sitosterolemia . In: Medscape. July 6, 2011.
- ^ AK Bhattacharyya, WE Connor: Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. In: The Journal of clinical investigation. Volume 53, Number 4, April 1974, pp. 1033-1043, ISSN 0021-9738 . doi: 10.1172 / JCI107640 . PMID 4360855 . PMC 333088 (free full text).
- ↑ Macrothrombocytopenia, Mediterranean. In: Orphanet (Rare Disease Database).