A review of Ehlers-Danlos syndrome

被引:15
作者
Miller, Erin [1 ]
Grosel, John M. [2 ,3 ]
机构
[1] Marietta Ohio Coll, PA Program, Marietta, GA USA
[2] Riverside Radiol & Intervent Associates Inc, Columbus, OH 43214 USA
[3] Marietta Coll, PA Program, Marietta, GA 45750 USA
来源
JAAPA-JOURNAL OF THE AMERICAN ACADEMY OF PHYSICIAN ASSISTANTS | 2020年 / 33卷 / 04期
关键词
Ehlers-Danlos syndrome; connective tissue disease; joint hypermobility; tissue fragility; skin hyperextensibility; heritable disease;
D O I
10.1097/01.JAA.0000657160.48246.91
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.
引用
收藏
页码:23 / 28
页数:6
相关论文
共 24 条
  • [1] Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.3.CO
  • [2] 2-P
  • [3] The International Consortium on the Ehlers-Danlos Syndromes
    Bloom, Lara
    Byers, Peter
    Francomano, Clair
    Tinkle, Brad
    Malfait, Fransiska
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) : 5 - 7
  • [4] Ehlers-Danlos Syndrome: Not Just Joint Hypermobility
    Bregant, Tina
    Spevak, Milica Klopcic
    [J]. CASE REPORTS IN MEDICINE, 2018, 2018
  • [5] Ehlers-Danios syndromes and Marfan syndrome
    Callewaert, Bert
    Malfait, Fransiska
    Loeys, Bart
    De Paepe, Anne
    [J]. BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, 2008, 22 (01): : 165 - 189
  • [6] A Framework for the Classification of Joint Hypermobility and Related Conditions
    Castori, Marco
    Tinkle, Brad
    Levy, Howard
    Grahame, Rodney
    Malfait, Fransiska
    Hakim, Alan
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) : 148 - 157
  • [7] Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives
    Castori, Marco
    [J]. EXPERT OPINION ON ORPHAN DRUGS, 2016, 4 (11): : 1145 - 1158
  • [8] Ehlers-Danlos syndrome in rheumatology: Diagnostic and therapeutic challenges
    Challal, Salima
    Minichiello, Emeline
    Funalot, Benoit
    Boissier, Marie-Christophe
    [J]. JOINT BONE SPINE, 2015, 82 (05) : 305 - 307
  • [9] Pain Management in the Ehlers-Danlos Syndromes
    Chopra, Pradeep
    Tinkle, Brad
    Hamonet, Claude
    Brock, Isabelle
    Gompel, Anne
    Bulbena, Antonio
    Francomano, Clair
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) : 212 - 219
  • [10] Orthopaedic Management of the Ehlers-Danlos Syndromes
    Ericson, William B., Jr.
    Wolman, Roger
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) : 188 - 194