Timely diagnosis of vascular Ehlers Danlos syndrome - the need for genetic testing and counselling

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Abstract

We present a case of a young female patient diagnosed clinically and molecularly with V-EDS and briefly review the published literature on this severe condition. Additionally, the case is used to highlight the need for early confirmation of diagnosis and appropriate referral to allow surveillance, intervention and genetic counselling.

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The 2017 international classification of the Ehlers-Danlos syndromes.

Fransiska Malfait, Clair Francomano, Peter K. Byers … (2017)

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.

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Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

P. Beighton, A. De Paepe, B. Steinmann … (1998)

Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of Ehlers-Danlos syndromes or between Ehlers-Danlos syndromes and other phenotypically related conditions. In addition, elucidation of the molecular basis of several Ehlers-Danlos syndromes has added a new dimension to the characterization of this group of disorders. We propose a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type. Major and minor diagnostic criteria have been defined for each type and complemented whenever possible with laboratory findings. This simplified classification will facilitate an accurate diagnosis of the Ehlers-Danlos syndromes and contribute to the delineation of phenotypically related disorders.

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Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

Peter H Byers, Nigel Wheeldon, Michael Frank … (2017)

Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan for use when traveling, centralize management at centers of excellence (experience) when feasible, maintain blood pressure in the normal range and treat hypertension aggressively, surveillance of vascular tree by doppler ultrasound, CTA (low radiation alternatives) or MRA if feasible on an annual basis. These recommendations represent a consensus of an international group of specialists with a broad aggregate experience in the care of individuals with vascular EDS that will need to be assessed on a regular basis as new information develops. © 2017 Wiley Periodicals, Inc.

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Contributors

C Feben: Role: ND

J Kromberg: Role: ND

A McDonald: Role: ND

A Krause: Role: ND

Journal

Journal ID (publisher-id): sajsurg

Title: South African Journal of Surgery

Abbreviated Title: S. Afr. j. surg.

Publisher: Association of Surgeons of South Africa (Cape Town, Western Cape Province, South Africa )

ISSN (Print): 0038-2361

ISSN (Electronic): 2078-5151

Publication date (Print and electronic): September 2018

Volume: 56

Issue: 3

Pages: 30-33

Affiliations

[02] orgnameThe University of the Witwatersrand orgdiv1School of Pathology orgdiv2Division of Human Genetics

[01] orgnameThe University of the Witwatersrand orgdiv1Faculty of Health Sciences orgdiv2School of Pathology

[03] orgnameAlberts Cellular Therapy orgdiv1Netcare Pretoria East Hospital

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Publisher ID: S0038-23612018000300016

DOI: 10.17159/2078-5151/2018/v56n3a2440

SO-VID: e73ee050-43ea-4733-93c2-200346193731

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Timely diagnosis of vascular Ehlers Danlos syndrome - the need for genetic testing and counselling

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Most cited references 4

The 2017 international classification of the Ehlers-Danlos syndromes.

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

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