Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Abstract

PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications.ResultsA total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS.ConclusionPotentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.

Figure 1

Flow diagram presenting the search and selection process.

Figure 2

Vascular complications in nonvascular EDS. (a) The number of patients with vascular complications is presented for each nonvascular EDS subtype in terms of percentage. The ratios relate to the total number of patients with vascular complication(s), to the total number per subtype. (b) The number of each type of complication is presented in terms of percentage. EDS, Ehlers-Danlos syndrome (for the definitions of the various subtypes of EDS, see Table 1); GI, gastrointestinal.