Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

Sobey, Glenda

doi:10.1136/archdischild-2013-304822

Cited by 80 publications

(64 citation statements)

References 24 publications

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“…The size of the fibers may range Giunta et al, 2002). Patients with translucent skin, easy bruising, poor wound healing, and unusual scars should be suspected to have EDS (Sobey, 2015). These patients may need to be referred to a clinical geneticist and multidisciplinary care facility for diagnosis and management.…”

Section: Diagnosis: Edsmentioning

confidence: 97%

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Periodic Bruising and Subluxation of the Leg

Chow

Hamstra

Jacob

2015

Journal of the Dermatology Nurses' Association

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A 28-year-old Hispanic woman presented to the dermatology clinic with a long-standing history of easy bruising accompanied by several episodes of left knee subluxation over the last 2 years. The patient provided cellular phone photographs of numerous erythematous to violaceous macules and patches distributed over her back, arms, and lower legs. The differential diagnoses for this patient's presentation are discussed in this article and include EhlersYDanlos syndrome, idiopathic thrombocytopenic purpura, granulomatous slack skin, actinic purpura, and intimate partner violence.

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Section: Diagnosis: Edsmentioning

confidence: 97%

“…EDS is a systemic and relatively rare neurocutaneous disorder caused by mutations in genes that regulate the production and processing of the different types of collagen and proteins (Sobey, 2015). Collagen is important for the structure of other tissues and organs, including the skin, vasculature, eyes, skeleton, tendons, and ligaments.…”

Section: Diagnosis: Edsmentioning

confidence: 99%

Periodic Bruising and Subluxation of the Leg

Chow

Hamstra

Jacob

2015

Journal of the Dermatology Nurses' Association

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“…Ehlers Danlos syndromes Type IV (vascular subtype), is associated with rupture of organs and normally sized blood vessels, including the aorta [8]. Clinically, important clues are a history of an arterial/ intestinal/ uterine rupture, incidentally noted organ tissue fragility at operation and extensive easy bruising and translucent (thin) skin.…”

Section: Ehlers Danlos Syndrome (Eds)mentioning

confidence: 99%

“…However, most subtypes of EDS are a more benign condition with respect to aortic dissection risk [9]. The rarer (autosomal recessive) kyphoscolitic subtype of EDS has also been associated with vascular rupture [8].…”

Section: Ehlers Danlos Syndrome (Eds)mentioning

confidence: 99%

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Zentner

West

Adès

2017

Heart, Lung and Circulation

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Key Points1. A number of inherited conditions can predispose the aorta, and less commonly other blood vessels, to dilatation and/ or rupture.2. Broadly speaking, these conditions are recognised as syndromic when accompanied by a number of systemic features or non-syndromic when the aortic dilatation appears to exist in isolation.3. The commonest syndromic aortopathy is Marfan syndrome and the commonest nonsyndromic aortopathy is that which accompanies congenital bicuspid aortic valve.4. Mutations in a number of genes have been identified, particularly in syndromic aortopathy.5. Although genotype-phenotype relationships exist, the phenotypes of the syndromic aortopathies may have significant overlap .6. When a syndromic aortopathy is suspected, review by a clinical geneticist is instrumental in characterising the clinical signs and the family history.7. Confirmation of a diagnosis (either clinically or by gene testing) allows identification of individuals at increased risk of aortic sequelae who will benefit from active medical management.8. Medical management is usually undertaken by a cardiologist with referral to other specialists (eg cardiothoracic surgeons) as appropriate.9. At risk family members should be offered predictive testing if a mutation is identified, and should otherwise be screened in keeping with the presumptive clinical diagnosis and assessment of risk.10. Pregnancy and the post-partum period confer a higher risk for aortic complications: a. Women with a personal or family history of aortopathy need appropriate preconception screening and counseling.b. Intervention may be required pre-conception and they should be managed closely throughout pregnancy, ideally in a high-risk obstetric clinic. A c c e p t e d M a n u s c r i p t 3 pregnancy, beta blockers can be used in pregnancy) and should include involvement of a cardiologist in the management and decision making for delivery.11. A clinical diagnosis of an inherited aortopathy can be made in the absence of a positive genetic test if the systemic features are consistent with a specific syndromic aortopathy. A familial history of aortic dissection in the absence of both a positive gene test and systemic examination findings may be more difficult to manage without a working clinical diagnosis. However, an inherited risk of dissection should nonetheless be considered in this setting, particularly if the process has affected young individuals and/or in the absence of traditional risk factors.

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“…Patients diagnosed with EDS have diverse clinical findings, which may be better understood and classified by identifying the genetic contribution to symptoms [1,2] . Although this condition has been recognized since 1901 [3] and is now classified into nine types, delineation of the types and relationships to causative genes and their variants are underway, impacted by advances in genetic technology and next generation (exome) sequencing [4,5] . Here, we assert that mutations in the TNXB gene, which encodes the glycoprotein tenascin-XB and related to the benign hypermobility form of EDS, may cause a more severe form or presentation of EDS.…”

Section: Introductionmentioning

confidence: 99%

Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome

Kaufman

Butler

2016

WJMG

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We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS). At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X deficiency, but the variant identified in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A > T nucleotide transition in the TNXB gene may be classified as disease-causing for EDS due to tenascin-X deficiency.

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Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

Cited by 80 publications

References 24 publications

Periodic Bruising and Subluxation of the Leg

Periodic Bruising and Subluxation of the Leg

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome

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