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
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
Fatores de risco
- family history of joint hypermobility or EDS
- genetic mutations
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- clinical diagnosis
- genetic testing
Investigações a serem consideradas
- complete blood count
- clotting screen
- tilt-table testing
- x-ray spine
- echocardiogram
- gastrointestinal imaging and endoscopy
Algoritmo de tratamento
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
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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