ReviewOrphanet journal of rare diseases2007
Ehlers-Danlos syndrome type IV.
Review in Orphanet journal of rare diseases, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 3 of them syntheses that pooled it.
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Who cites it
97 citing papers in PubMed, 3 syntheses or guidelines pooled it, 373 citations in OpenAlex.
- Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.Techniques in coloproctology · 2018Pooled it
- TGFBR2 mutation and MTHFR-C677T polymorphism in a Mexican mestizo population with cervico-cerebral artery dissection.Journal of neurology · 2016Pooled it
- Guideline
- A rare case report of vascular Ehlers-Danlos syndrome as a pulsatile neck mass with an internal carotid artery aneurysm.Radiology case reports · 2026Article
- A unique case of prenatal diagnosis of vascular Ehlers-Danlos syndrome.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Chest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.Journal of the Korean Society of Radiology · 2025Article
- Paediatric cerebrovascular syndromes: imaging clues to a diagnosis.The British journal of radiology · 2025Article
- Spontaneous Intracranial Vertebral Artery Dissection: A Rare Cause of Ischemic Stroke.Journal of cardiovascular development and disease · 2025Review
- Spontaneous sigmoid perforation and subsequent ruptured hepatic aneurysms in suspected vascular type Ehlers-Danlos syndrome: a case report and comprehensive literature review.Journal of surgical case reports · 2024Article
- Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations inInternational journal of molecular sciences · 2024Article
- The effects of systemic diseases, genetic disorders and lifestyle on keloids.International wound journal · 2024Review
- Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts.Orphanet journal of rare diseases · 2024Article
- A Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome.NMC case report journal · 2024Article
- Spontaneous rupture of breast pseudoaneurysm: a rare case.BMJ case reports · 2023Article
- Gender Differences in Post-Operative Human Skin.Biomedicines · 2023Article
- Promising Novel Therapies in the Treatment of Aortic and Visceral Aneurysms.Journal of clinical medicine · 2023Review
- A case of popliteal artery rupture in an 11-year-old patient with vascular Ehlers-Danlos syndrome.Journal of vascular surgery cases and innovative techniques · 2023Article
- Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene.Surgical case reports · 2023Article
- A deep-learning method for the end-to-end prediction of intracranial aneurysm rupture risk.Patterns (New York, N.Y.) · 2023Article
- Distinct Mechanisms of β-Arrestin-Biased Agonist and Blocker of AT1R in Preventing Aortic Aneurysm and Associated Mortality.Hypertension (Dallas, Tex. : 1979) · 2023Article
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.