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Pregnancy

Women's health

A clinical update on hypermobile Ehlers-Danlos syndrome during pregnancy, birth and beyond

02 September 2021

Clinical Practice

02 September 2021

Volume 29 · Issue 9

ISSN (print): 0969-4900

ISSN (online): 2052-4307

Abstract

New estimates suggest that cases of hypermobile Ehlers-Danlos syndrome (hEDS) along with the related hypermobility spectrum disorders (HSD) affect approximately 1 in 20 pregnancies globally per year. As such, cases in maternity services should no longer be considered rare, only rarely diagnosed. These conditions can impact upon childbearing in different ways, yet healthcare professionals are often perceived to be lacking in awareness. This article updates and builds upon a previous international review of maternity care considerations for those childbearing with hEDS/HSD. Findings point to a need for individualised care planning in partnership with parents as part of a multidisciplinary approach. As our knowledge of these conditions has developed significantly in recent years, new research insights could usefully be embedded in staff and student education. As a first step, www.hEDSTogether.com has been launched hosting a freely downloadable EDS Maternity tool for use in practice, along with an i-learn module hosted by the Royal College of Midwives.

Connective tissue is present throughout the body and acts as a fabric-like support structure holding every joint, muscle and organ in place (Cohen and Hull, 2020). It also forms the extracellular matrix providing structural support to cells. As such, conditions which impact upon the functionality of connective tissue may have significant consequences in childbearing, where the human body and its tissues must adapt significantly to grow and birth a baby. The Ehlers-Danlos syndromes (EDS) are a group of heritable, multisystemic conditions which affect connective tissues throughout the body (Malfait et al, 2017). Most subtypes of EDS are rare but hypermobile EDS (hEDS) alongside the related hypermobility spectrum disorders (HSD) are no longer considered rare, as recent work has shown a diagnosed prevalence rate of 1 in 500 (Demmler et al, 2019).

On the contrary, hEDS/HSD appears to be only rarely diagnosed, as only 5% of cases are successfully identified (Grahame, 2008), and it can take an average (mean) of 16 years for women to be diagnosed with EDS from the time of development of significant symptoms (EURORDIS and Faurisson, 2009). Other heritable connective tissue disorders that impact upon pregnancy can now be detected using next-generation DNA sequencing (VanderJagt and Butler, 2019). Joint hypermobility is one manifestation of hEDS/HSD, often given prominence over other key features. The nine-point Beighton score of joint motion (Beighton et al, 1973), the more recent lower limb assessment score (Ferrari et al, 2005), or the self-reported five-part questionnaire, 5PQ, may be used to assess hypermobility (Schlager et al, 2020). Yet, while the Beighton score can be used as a guide for the identification of generalised joint hypermobility, it should not be used to exclude people from a diagnosis of hEDS/HSD or a referral for diagnosis or treatment (Malek et al, 2021). As no single gene (or other reliable testing modality) has yet been identified for hEDS/HSD, diagnosis remains reliant upon clinical observations and family histories (where available).

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