Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
Open accessAbstract
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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Vascular EDS is the most severe EDS type and is primarily characterized by life-threatening features of tissue fragility leading to arterial dissection or aneurysm, gastrointestinal ruptures, and pregnancy complications at a young age.
“Among the different EDS forms, vascular EDS (vEDS, OMIM#130050) is the most severe type and is primarily characterized by life-threatening features of tissue fragility leading to arterial dissection or aneurysm, gastrointestinal ruptures, and pregnancy complications at a young age [92,93].”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [92]
Predominant expression of COLLIII in walls of blood vessels and hollow organs explains why its reduction due to COL3A1 mutations leads to increased bruising, arterial and bowel rupture, and uterine, cervical, and vaginal fragility during pregnancy and delivery.
“The predominant expression of COLLIII in the walls of blood vessels and in hollow organs explains why its reduction due to COL3A1 mutations leads to increased bruising, arterial and bowel rupture, and uterine, cervical, and vaginal fragility during pregnancy and delivery [4].”
Vascular fragility and abnormal vessel structure cause easy bruising, severe varicosities, arterial dissection or aneurysm formation and eventual arterial or intestinal rupture that can lead to fatal consequences and reduced life span.
“Vascular fragility and abnormal vessel structure cause easy bruising, severe varicosities, arterial dissection or aneurysm formation and eventual arterial or intestinal rupture that can lead to fatal consequences and a reduced life span of patients [4,5].”
COLLIII is the major expressed collagen in blood vessels and hollow organs.
“which is the major expressed collagen in blood vessels and hollow organs”
The nature of the specific COL3A1 mutation influences life expectancy.
“the nature of the specific COL3A1 mutation influences life expectancy.”
Heterozygosity for COL3A1 null alleles typically produces a milder clinical phenotype with a significant delayed onset of complications.
“Heterozygosity for COL3A1 null alleles typically produces a milder clinical phenotype with a significant delayed onset of complications [4, 9–12].”
Splice site mutations that lead to exon skipping have the lowest median survival.
“Splice site mutations that lead to exon skipping have the lowest median survival.”
Substitutions of bulky residues (Arg, Asp, Glu, Val) for glycine residues in the triple helical domain are usually less severe than splice site mutations, but more consequential than substitutions by smaller residues (Ala, Ser, Cys).
“Substitutions of bulky residues (Arg, Asp, Glu, Val) for glycine residues in the triple helical domain are usually less severe than splice site mutations, but more consequential than substitutions by smaller residues (Ala, Ser, Cys).”
The present patients exhibited a full-blown expression of the disease with several major arterial events, in line with the limited genotype-phenotype correlation that associates this type of structural mutations with a more severe clinical phenotype.
“Besides, the present patients exhibited a full-blown expression of the disease with several major arterial events, in line with the limited genotype-phenotype correlation that associates this type of structural mutations with a more severe clinical phenotype [4,9–12].”
Diagnosing vascular EDS matters because it carries a higher risk of arterial aneurysms and rupture of hollow organs.
“it would be important to diagnose vEDS because of the increased risk of arterial aneurysms and hollow organ rupture (Byers et al., 2017).”
From Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome (2018) · cites this paper as Byers et al., 2017
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References 24 · Cited by 381
- Authors
- Byers, P. H., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L., & Wheeldon, N.
- Affiliations
- University of Washington (US)
- Baylor College of Medicine (US)
- Corresponding author
- Byers, Peter H.
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2017-03
- Volume
- 175
- Issue
- 1
- Pages
- 40-47
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W2596420645
- Cited by
- 381
- References
- 24
- Citations by year
- 2026: 30 · 2025: 48 · 2024: 61 · 2023: 55 · 2022: 46 · 2021: 38 · 2020: 36 · 2019: 38 · 2018: 21 · 2017: 6
- FWCI
- 18.14
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Aortic aneurysm repair treatments
- Keywords
- vascular Ehlers-Danlos syndrome, COL3A1, type III procollagen, arterial aneurysm, arterial dissection, arterial rupture, uterine rupture, natural history (disease), diagnosis, antihypertensive therapy, Doppler ultrasound, multidisciplinary care, centers of excellence
- MeSH terms
- Ehlers-Danlos Syndrome, Humans, Vascular Diseases, Practice Guidelines as Topic, Disease Management, Collagen Type III
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