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Marfan syndrome

From Wikipedia
Marfan syndrome
designated intractable/rare disease, rare disease, class of disease, signs den symptoms
Subclass ofmarfanoid, connective tissue disease, eye disease, disease Edit
Dem name afterAntoine Marfan Edit
Dey afflictconnective tissue Edit
Health specialtymedical genetics Edit
Genetic associationFBN1 Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4792 Edit
ICD-9-CM759.82 Edit
ICPC 2 IDA90 Edit
NCI Thesaurus IDC34807 Edit

Marfan syndrome (MFS) be a multi-systemic genetic disorder wey dey affect de connective tissue.[1][2][3] People plus de condition often be tall den thin, plus long arms, legs, fingers, den toes.[3] Dem sanso typically get exceptionally flexible joints den abnormally curved spines.[3] De most serious complications dey involve de heart den aorta, plus an increased risk of mitral valve prolapse den aortic aneurysm.[3][4] De lungs, eyes, bones, den de covering of de spinal cord sanso be commonly affected.[3] De severity of de symptoms be variable.[3]

MFS be caused by a mutation insyd FBN1, one of de genes wey dey make fibrillin, wich dey result in abnormal connective tissue.[3] E be an autosomal dominant disorder.[3] Insyd about 75% of cases, e be inherited from a parent plus de condition, while insyd about 25% e be a new mutation.[3] Diagnosis often be based on de Ghent criteria,[5] family history den genetic testing (DNA analysis).[6][7][8]

Der be no known cure for MFS.[3] Chaw of those plus de disorder get a normal life expectancy plus proper treatment.[3] Management often dey include de use of beta blockers such as propranolol anaa atenolol, calcium channel blockers, ACE inhibitors, den/anaa angiotensin receptor blockers ("ARBs").[7][9] Surgery fi be required to repair de aorta anaa replace a heart valve.[9] Avoiding strenuous exercise be recommended for those plus de condition.[7]

About 1 insyd 5,000 to 1 insyd 10,000 people get MFS.[7][10] Rates of de condition be similar insyd different regions of de world.[10] Dem name am after French pediatrician Antoine Marfan, wey first describe am insyd 1896.[11][12]

References

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  1. ↑ Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. (July 2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–485. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885. S2CID 13895128. Archived from the original on 2017-08-29. Retrieved 2016-01-10.
  2. ↑ Nistri S, De Cario R, Sticchi E, Spaziani G, Della Monica M, Giglio S, et al. (September 2021). "Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2". Genes. 12 (10): 1462. doi:10.3390/genes12101462. PMC 8536070. PMID 34680857.
  3. 1 2 3 4 5 6 7 8 9 10 11 "What Is Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 6 May 2016. Retrieved 16 May 2016.
  4. ↑ "What Are the Signs and Symptoms of Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
  5. ↑ Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM (2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–485. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885.
  6. ↑ "How Is Marfan Syndrome Diagnosed?". NHLBI, NIH. October 1, 2010. Archived from the original on 27 September 2022. Retrieved 16 May 2016.
  7. 1 2 3 4 "Marfan Syndrome". National Organization for Rare Disorders. 2017. Archived from the original on 12 November 2019. Retrieved 5 November 2016.
  8. ↑ Marelli S, Micaglio E, Taurino J, Salvi P, Rurali E, Perrucci GL, Dolci C, Udugampolage NS, Caruso R, Gentilini D, Trifiro' G, Callus E, Frigiola A, De Vincentiis C, Pappone C, Parati G, Pini A (July 2023). "Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies". Diagnostics. 13 (13): 2284. doi:10.3390/diagnostics13132284. PMC 10340634. PMID 37443678.
  9. 1 2 "How Is Marfan Syndrome Treated?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
  10. 1 2 Keane MG, Pyeritz RE (May 2008). "Medical management of Marfan syndrome". Circulation. 117 (21): 2802–2813. doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019. estimated prevalence of 1 case per 3000 to 5000 individuals
  11. ↑ Marfan, Antoine (1896). "Un cas de déformation congénitale des quartre membres, plus prononcée aux extrémitiés, caractérisée par l'allongement des os avec un certain degré d'amincissement [A case of congenital deformation of the four limbs, more pronounced at the extremities, characterized by elongation of the bones with some degree of thinning]". Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris (in French). 13 (3rd series): 220–226. OCLC 493643386. NAID 10014879958.
  12. ↑ "Antoine Bernard-Jean Marfan". Whonamedit?. Archived from the original on 8 March 2016. Retrieved 16 May 2016.
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