Gastrointestinal involvement in the Ehlers–Danlos syndromes

Abstract

Current evidence suggests that an association exists between non-inflammatory hereditary disorders of connective tissue such as the Ehlers-Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind-gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as functional dyspepsia and irritable bowel syndrome. Presence of GI symptoms in EDS patients influences their quality of life. Specific evidence based management guidelines for the management of GI symptoms in EDS patients do not exist and these patients are often treated symptomatically. There is, however, recognition that certain precautions need to be taken for those patients undergoing surgical treatment. Future studies are required to identify the mechanisms that lead to GI symptoms in patients with EDS and more specific treatment guidelines are required.

Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review

“…h-EDS is a chronic, disabling condition, characterized by large and small joint and spine hypermobility, frequent joint dislocation, chronic pain and chronic GI symptoms [13]. GI co-morbid conditions in EDS include reflux, dysphagia, hiatal hernias, visceroptosis, rectocele, and rectal prolapse, as well as GI functional disorders related to abnormal gut motility in fore- and hind-gut [20, 68]. In patients with h-EDS, the GI symptoms are very prominent and often present as the primary complaint.…”

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

“…Patients with hEDS may present with a number of comorbid features including widespread pain, orthostatic intolerance (OI) and/or postural orthostatic tachycardia syndrome (POTS) (Hakim et al, ), chronic headaches (Henderson et al, ), gastrointestinal (GI) dysfunction and functional disorders (Fikree, Chelimsky, Collins, Kovacic, & Aziz, ), mast cell activation syndrome (MCAS) (Seneviratne, Maitland, & Afrin, ), and psychological comorbidities such as depression and anxiety (Bulbena et al, ).…”

Autonomic and peripheral neuropathy with reduced intraepidermal nerve fiber density can be observed in patients with gastrointestinal dysmotility

“…24,25 GI symptoms secondary to Ehlers-Danlos syndrome are wellknown in clinical practice, often entitled as functional bowel disorders. 26 However, severe GI dysmotility in the form of CIPO or ED in Ehlers-Danlos syndrome has only been described in the literature as case reports of children. 27,28 Our patient with Ehlers-Danlos syndrome is, to the best of our knowledge, the first report of an adult patient with severe GI dysmotility and histopathological changes in the enteric nervous system.…”

“…In accordance, diseases, such as amyloidosis and Fabry disease, characterized by amyloid deposits and progressive lysosomal accumulation of lipids, respectively, have been described to develop both severe GI dysmotility, as well as autonomic and peripheral neuropathy . GI symptoms secondary to Ehlers‐Danlos syndrome are well‐known in clinical practice, often entitled as functional bowel disorders . However, severe GI dysmotility in the form of CIPO or ED in Ehlers‐Danlos syndrome has only been described in the literature as case reports of children .…”