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Síndrome de Ehlers-Danlos

Última revisão: 30 Apr 2025
Última atualização: 20 Mar 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presença de fatores de risco
  • hipermobilidade articular
  • dor na articulação ou na coluna
  • atraso motor na primeira infância
  • síndrome da dor crônica
  • fadiga
  • luxação ou subluxação da articulação recorrente
  • dor muscular e/ou espasmo muscular
  • pele de textura macia e sedosa
  • pele semitransparente
  • dobra dupla da pele elástica e fina
  • cicatrizes atróficas
  • hematomas frequentes
  • estrias
  • má cicatrização de feridas e/ou deiscência da ferida
  • lesão significativa
  • história de efeito tardio da anestesia local
Detalhes completos

Outros fatores diagnósticos

  • hipotonia muscular
  • veias varicosas
  • hérnia da parede abdominal, inguinal ou paraumbilical
  • prolapso retal ou uterino
  • hipotensão ortostática
  • intolerância ortostática
  • Síndrome de taquicardia postural ortostática
  • hipotensão neuromediada
  • hábito marfanoide
  • manifestações gastrointestinais
  • manifestações ginecológicas
  • anomalias oculares
  • clique no meio da sístole ou sopro sistólico tardio
Detalhes completos

Fatores de risco

  • história familiar de hipermobilidade articular ou síndrome de Ehlers-Danlos
  • mutações genéticas
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • diagnóstico clínico
  • teste genético
Detalhes completos

Investigações a serem consideradas

  • hemograma completo
  • exames de coagulação
  • teste da mesa inclinável
  • radiografia da coluna
  • ecocardiograma
  • imagiologia e endoscopia digestivas
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

todos os pacientes

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

Disclosures

HB declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

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.Full text  Abstract

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

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

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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