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Ehlers-Danlos' syndrom

Ehlers-Danlos' syndrom er den hyppigst forekommende arvelige bindevevssykdommen. Det er en mulig differensialdiagnose til kjente lidelser i muskel- og skjelettsystemet.

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Hva er Ehlers-Danlos' syndrom?

Årsak

Symptomer

Hudforandringer

Hypermobile ledd

Andre feil

Diagnosen

Behandling

Ved graviditet

Prognose

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TRS kompetansesenter (Sunnaas sykehus)

TAKO-senteret

Kilder

Referanser

Dette dokumentet er basert på det profesjonelle dokumentet Ehlers-Danlos syndrom. Referanselisten for dette dokumentet vises nedenfor.

  1. Rand-Hendriksen S, Wekre LL, Paus B. Ehlers-Danlos' syndrom - diagnostikk og subklassifisering. Tidsskr Nor Lægeforen 2006; 126: 1903-7. PubMed 
  2. Malfait F, Francomano C, Byers P, et al. The 2017 International Classification of the Ehlers-Danlos syndromes. AJMG Part C. 2017; 175 (1): 8-26.
  3. Clinch J, Deere K, Sayers A, et al. Epidemiology of Generalized Joint Laxity (Hypermobility) in Fourteen-Year-Old Children From the UK: A Population-Based Evaluation. Arthritis Rheum. 2011 Sep; 63(9): 2819–2827. www.ncbi.nlm.nih.gov 
  4. Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet 2017; 175:27. PubMed 
  5. Handa S, Sethuraman G, Mohan A et al. Ehlers-Danlos syndrome with bladder diverticula. Br J Dermatol 2001; 144: 1084-5. PubMed 
  6. De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 2004; 127: 491-500. PubMed 
  7. Macsai MS, Lemley HL, Schwartz T. Management of oculus fragilis in Ehlers-Danlos type VI. Cornea 2000; 19: 104-7. PubMed 
  8. Kobayasi T. Abnormality of dermal collagen fibrils in Ehlers-Danlos syndrome. Anticipation of the abnormality for the inherited hypermobile disorders. Eur J Dermatol 2004; 14: 221-9. PubMed 
  9. Symoens S, Syx D, Malfait F, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat 2012; 33:1485. PubMed 
  10. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22:165. PubMed 
  11. Ong K-T, Perdu J, De Backer J, et al. Effecot of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 2010; 376: 1476-84. PubMed 
  12. De Coster PJ, Martens LC, De Paepe A. Oral health in prevalent types of Ehlers-Danlos syndromes. J Oral Pathol Med 2005; 34: 298-307. PubMed 
  13. Glynn JC, Yentis SM. Epidural analgesia in a parturient with classic type Ehlers-Danlos syndrome. Int J Obstet Anesth 2005; 14: 78-81. PubMed