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Ehlers-Danlos syndrome

Last reviewed: 12 Aug 2025
Last updated: 19 Nov 2024

Summary

Definition

História e exame físico

Principais fatores diagnósticos

  • family history of joint hypermobility, EDS, or genetic mutations
  • joint hypermobility
  • joint or spine pain
  • motor delay in infancy
  • chronic pain syndrome
  • fatigue
  • recurrent joint dislocation or subluxation
  • muscle pain and/or muscle spasm
  • soft, silky skin texture
  • semitransparent skin
  • thin and stretchy double fold of skin
  • atrophic scars
  • easy bruising
  • stretch marks
  • poor wound healing and/or wound dehiscence
  • significant injury
  • history of delayed onset of local anesthesia
Detalhes completos

Outros fatores diagnósticos

  • muscle hypotonia
  • varicose veins
  • abdominal wall, inguinal, or paraumbilical hernia
  • uterine or rectal prolapse
  • orthostatic hypotension
  • orthostatic intolerance
  • postural orthostatic tachycardia syndrome
  • neurally mediated hypotension
  • marfanoid habitus
  • gastrointestinal manifestations
  • gynecologic manifestations
  • eye abnormalities
  • midsystolic click or late systolic murmur
Detalhes completos

Fatores de risco

  • family history of joint hypermobility or EDS
  • genetic mutations
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • clinical diagnosis
  • genetic testing
Detalhes completos

Investigações a serem consideradas

  • complete blood count
  • clotting screen
  • tilt-table testing
  • x-ray spine
  • echocardiogram
  • gastrointestinal imaging and endoscopy
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

Shweta Dhar, MD, MS, FACMG, FACP

Professor

National Program Executive Director, Genomics

Veterans Affairs

Director, Adult Genetics Division

Department of Molecular & Human Genetics

Baylor College of Medicine

Chief, Section of Genetic Medicine

Michael E. Debakey Veterans Affairs Medical Center

Houston

TX

Declarações

SD receives royalties from Elsevier for the Handbook of Adult Genetics & Genomics. SD is on the Board of Directors for the American College of Medical Genetics & Genomics (ACMG) and is course director for the ACMG 101 course for non-genetics providers.

Agradecimentos

Dr Shweta Dhar would like to gratefully acknowledge Dr Rodney Grahame and Dr Alan Hakim, the previous contributors to this monograph. RG and AH are authors of several references cited in this monograph.

Revisores

Howard P. Levy, MD, PhD

Assistant Professor

Division of General Internal Medicine

Department of Medicine

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University

Baltimore

MD

Declarações

HPL is an author of a number of references cited in this monograph.

Bert Callewaert, MD

Research Assistant

Fund for Scientific Research

Flanders Centre for Medical Genetics

Ghent University Hospital

Ghent

Belgium

Declarações

BC declares that he has no competing interests.

Howard Bird, MA, MD, FRCP

Professor of Pharmacological Rheumatology

University of Leeds

Chapel Allerton Hospital

Leeds

UK

Declarações

HB declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.Texto completo  Resumo

Hakim AJ, Sahota A. Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue. Clin Dermatol. 2006 Nov-Dec;24(6):521-33. Resumo

Castori M. Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol. 2012;2012:751768.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
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