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

Abstract

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.

Natural history of gastrointestinal manifestations in vascular Ehlers–Danlos syndrome: A 17‐year retrospective review

“…Although digestive fragility is dominated by one single complication—colonic rupture (41%)—other perforating accidents are not uncommon (8%). However, overall GI perforation rate in this cohort (49%) is lower than in a previous report (82%), an overestimation likely related to publication bias . Indeed, in our series, a little more than half of GI manifestations are not perforations (51%).…”

“…Finally, vEDS reportedly has a high frequency of surgical complications due to tissue fragility. Although colonic perforations are frequent in vEDS patients, we still lack clear recommendations on their surgical management.…”

Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison

“…The prolonged and sometimes traumatic diagnosis and/or misdiagnosis process in EDS can lead to further disengagement with services 34. The lack of a timely diagnosis has great implications for disease management and progression and impedes the appropriate consideration of surgical interventions7 35–38 as well as pregnancy and birth planning 17. It is perhaps only in stepping back to look at the pattern of effects across multiple body systems that practitioners might begin to consider a connective tissue disorder.…”

Postoperative intracerebral haematomas following stereotactic biopsies: Poor planning or poor execution?

“…Thus, mechanical deviation or brain shift, leading to unexpected anatomical damage, cannot explain the observed haematomas. In addition, none of the patients included in this study had a medical condition increasing the risk of postoperative intracerebral haematoma 36 . Lastly, the acquisition of a preoperative MRI shortly before the surgery (only low‐grade diffuse gliomas had a time interval longer than 7 days) precluded tumour progression or spontaneous tumoural bleeding from occurring between the preoperative MRI and stereotactic biopsy.…”