Hypermobile Ehlers-Danlos Syndrome during pregnancy, birth and beyond

Abstract

Hypermobile Ehlers-Danlos Syndrome during pregnancy, birth and beyond T he Ehlers-Danlos Syndromes (EDS) are a group of multisystemic, inherited conditions that affect connective tissue (Malfait et al, 2017). The various subtypes of EDS can share symptoms such as joint hypermobility and hyperextensible and/or fragile skin (Bloom et al, 2017), yet many EDS subtypes also include clinical characteristics relating to pain, extreme fatigue, irritable bowel, sleep disturbance, depression, anxiety and other cardiovascular, gastrointestinal, orthopaedic, oromandibular, neurological, allergic/immunological, and psychological aspects of health (Tinkle et al, 2017). The prevalence of EDS was historically estimated to be 1 in 5000 for all subtypes (Beighton et al, 1998), although other work suggests a prevalence of 0.75-2% (Hakim and Sahota, 2006). There has been no high-quality prevalence study carried out since EDS received a major reclassification in 2017 (Tinkle et al, 2017). Despite these estimated prevalence rates, EDS is considered to remain largely underdiagnosed (Castori, 2012; Gazit et al, 2016). This is concerning for those receiving maternity care, as it is also associated with a number of complications relating to pregnancy and birth. Such complications can include precipitate labour, preterm rupture of membranes, scoliosis (problems with anaesthesia), atonic uterus, bleeding, vaginal and/ or perineal tears during birth, wound dehiscence and tissue fragility (Lawrence, 2005; Castori et al, 2012). This presents a unique opportunity for midwives and other members of the multidisciplinary team to understand, raise awareness of and more effectively support undiagnosed pregnant women, and those suspected of having or diagnosed with EDS. Those diagnosed with EDS perceive a lack of awareness among health professionals and describe delays in access to appropriate healthcare services (Terry et al, 2015). If EDS remains poorly understood by the multidisciplinary team, this may significantly compromise maternity care (Ross and Grahame, 2011). Consequently, this paper draws from wider literature and a number of key contemporary reviews to present evidence-based care considerations for both the mother and the neonate

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

“…Chronic disabling fatigue13 and pain syndromes14 were also recognised as common and multifactorial issues. Gynaecological15 16 and obstetric17 issues are also reported in this population. There is also an emerging link with the potentially life-threatening condition of mast cell activation syndrome 18 19.…”

“…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.…”

The role of extracellular matrix in normal and pathological pregnancy: Future applications of microphysiological systems in reproductive medicine

“…111 For example, women with Ehlers-Danlos syndrome, a family of diseases that disrupts connective tissues in the body, are more likely to experience obstetric complications including premature rupture of membranes and preterm birth. 112 Pregnant patients with severe forms Ehlers-Danlos syndrome also face an increased risk of uterine rupture and maternal mortality. 113 The hypothesized mechanism of premature membrane rupture is a defect in collagen synthesis, which weakens the chorionic membrane of the affected fetus.…”

Genetic landscape of preterm birth due to cervical insufficiency: Comprehensive gene analysis and patient next-generation sequencing data interpretation

“…It is also known that the coincidence of Marfan syndrome and pregnancy means a high risk for mother and child as it might be complicated by PPROM, premature uterine contractions, and cervical insufficiency [72]. Therefore, knowledge that the patient is suspected of having or indeed has a connective tissue disorder or a tendency towards connective tissue laxity (perhaps only in certain scenarios) would provide a unique opportunity for the multidisciplinary team members to more effectively support pregnant women through increased understanding and awareness [73].…”