Varying Presentations in Patients With Symptomatic Type IV Vascular Ehlers-Danlos Syndrome

Dwivedi, Amit J.; Hamdallah, Omar; Morris, Marvin E.; Yancey, Andrea E.; Ross, Charles B.

doi:10.1177/1538574411433298

Cited by 7 publications

(7 citation statements)

References 14 publications

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“…Patients frequently die in their third and fourth decade and survival beyond 50 years is exceptional. 3 Arterial rupture is the most common cause of sudden death 1 so we can say that our patient has now reached an age above average even in the presence of a significant history of arterial complications.…”

Section: Discussionmentioning

confidence: 75%

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Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

Rocci¹,

Paganelli²,

Rossetti³

et al. 2015

Ital J Med

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We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS) that was confirmed by genetic analysis of COL3A1 gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence.

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Section: Discussionmentioning

confidence: 75%

“…Vascular EDS is considered one of the most serious forms of EDS because blood vessels and organs are prone to tearing. 3 …”

Section: Introductionmentioning

confidence: 99%

Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

Rocci¹,

Paganelli²,

Rossetti³

et al. 2015

Ital J Med

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“…10 When compared with the other subtypes of EDS, the vascular type has largely been recognized as having the worst prognosis due to vessel/organ rupture and its associated early mortality. 6,11 Vascular fragility can lead to disproportionate bleeding and bruising and is often an early presenting feature. 6 Due to the risk of bleeding and hematoma formation, elective surgical interventions of any type are discouraged if an alternative conservative measure is available.…”

Section: Discussionmentioning

confidence: 99%

Anesthetic management of a parturient with hypermobility phenotype but possible vascular genotype Ehlers-Danlos syndrome

Fedoruk¹,

Sermer

Carvalho

2015

Can J Anesth/J Can Anesth

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The risk of severe morbidity and mortality in parturients with vascular EDS has warranted recommendations for modified management of labour, particularly regarding mode and timing of delivery. Nevertheless, a multidisciplinary approach and consideration of phenotype rather than genotype alone were instrumental in the successful management of this patient. Genetic testing of patients who display features of EDS and/or who have a positive family history of the disease is important in the preparation for labour and delivery. In the absence of convincing signs of vascular EDS and a negative family history, it may be rational to offer certain parturients neuraxial anesthesia and a trial of vaginal labour.

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“…Overall, a conservative approach and reservation of invasive treatment to vital indication is recommended [23] . Patients' previous surgical history, prior bleeding anamnesis, and subtype of EDSs should be taken into consideration when evaluating risks of surgical intervention in patients with EDSs [37] . This practice could possibly contribute to reduce the restraint on operating all patients with EDSs as one homogeneous group, as the surgical complications, as shown in this review, are primarily associated with the vascular subtype.…”

Section: Discussionmentioning

confidence: 99%

Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

et al. 2016

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Background/Aims: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. Methods: A systematic search was conducted in PubMed, Embase, and Scopus to identify relevant studies. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines for systematic reviews were followed. According to eligibility criteria, data were extracted and systematically screened by 2 authors. Results: Screening process identified 11 studies with a total of 1,567 patients. Findings indicated that patients with EDSs had a higher occurrence of surgery demanding GI manifestations, including perforation, hemorrhage, rupture of intra-abdominal organs, and rectal prolapse. Most affected was the vascular subtype, of which up to 33% underwent GI surgery and suffered from a lowered average life expectancy of 48 years (range 6-78). Secondary complications of surgery were common in all patients with EDSs. Conclusion: Studies suggested that patients with EDSs present an increased need for GI surgery, but also an increased risk of surgery-related complications, most predominantly seen in the vascular subtype.

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Varying Presentations in Patients With Symptomatic Type IV Vascular Ehlers-Danlos Syndrome

Cited by 7 publications

References 14 publications

Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

Anesthetic management of a parturient with hypermobility phenotype but possible vascular genotype Ehlers-Danlos syndrome

Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

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