Establishing an Ehlers-Danlos Syndrome Clinic: Lessons Learned

被引：8
作者：
Dacre R. T. Knight
Sunnie M. Confiado
Katelyn A. Bruno
DeLisa Fairweather
Andrea M. Seymour-Sonnier
Angita Jain
Jessica M. Gehin
Emily R. Whelan
Joshua H. Culberson
Bala Munipalli
Nancy L. Dawson
Todd D. Rozen
Joseph J. Wick
Archana Kotha
机构：
[1] Mayo Clinic,Department of General Internal Medicine
[2] Mayo Clinic,Department of Clinical Genomics
[3] Mayo Clinic,Department of Cardiovascular Medicine
[4] Mayo Clinic,Department of Neurology
[5] Mayo Clinic,Department of Research Services
来源：
SN Comprehensive Clinical Medicine | / 4卷 / 1期
关键词：
Ehlers-Danlos syndrome; Hypermobility spectrum disorder; Hypermobile Ehlers-Danlos syndrome; Patient focus group; Translational research;
D O I：
10.1007/s42399-022-01218-w
中图分类号：
学科分类号：
摘要：
In a large academic medical center, patient requests from the community and internal referrals for evaluation of suspected hypermobility conditions were being denied consultation because services specific to this condition were not available. We identified this gap and developed a comprehensive evaluation for this unique patient population. The objective of this paper is to demonstrate a solution for improving outcomes in a neglected patient population by establishing an innovative outpatient clinic specifically tailored for patients with EDS.
引用
收藏
相关论文
共 75 条
  • [1] Blackburn PR(2018)Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome Am J Hum Genet 102 696-705
  • [2] Xu Z(2020)The Ehlers-Danlos syndromes Nat Rev Dis Primers 6 64-28
  • [3] Tumelty KE(2020)A review of Ehlers-Danlos syndrome JAAPA 33 23-75
  • [4] Zhao RW(2018)Characteristics, diagnosis, and management of Ehlers-Danlos syndromes: a review JAMA Facial Plast Surg 20 70-407
  • [5] Monis WJ(1994)Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification Hum Genet 93 394-189
  • [6] Harris KG(2008)Ehlers-Danlos syndromes and Marfan syndrome Best Pract Res Clin Rheumatol 22 165-61
  • [7] Malfait F(2015)Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests Arch Dis Child 100 57-157
  • [8] Castori M(2018)Ehlers-Danlos syndrome: not just joint hypermobility Case Rep Med 2018 5053825-32
  • [9] Francomano CA(2017)A framework for the classification of joint hypermobility and related conditions Am J Med Genet C Semin Med Genet 175 148-115
  • [10] Giunta C(2020)The many facets of hypermobile Ehlers-Danlos syndrome J Am Osteopath Assoc 120 30-344
12345678