New Guidance for Hypermobility Syndromes With GI Symptoms

Medscape

19 hours ago

An increase of patients presenting with the complex combination of hypermobile Ehlers-Danlos syndrome (hEDS) with co-existing gastrointestinal (GI) symptoms, postural orthostatic tachycardia syndrome (POTS), and/or mast cell activation syndrome (MCAS), has prompted the issuance of clinical practice guidance from the American Gastroenterological Association (AGA) to help clinicians comprehend such cases.
'Recognizing and treating GI symptoms in patients with hEDS or hypermobility spectrum disorders and comorbid POTS or MCAS present major challenges for clinicians, who often feel under equipped to address their needs,' the AGA reported in the update, published in Clinical Gastroenterology and Hepatology.
Importantly, 'the poor understanding of these overlapping syndromes can lead to nonstandardized approaches to diagnostic evaluation and management,' the authors noted.
'Gastroenterology providers should be aware of the features of [these syndromes] to recognize the full complexity of patients presenting with multisystemic symptoms.'
Hypermobility spectrum disorders, which include hEDS, are typically genetic, and patients experience pain along with joint hypermobility, or extreme flexibility of joints beyond the normal range of motion.
With research showing that most of those patients — up to 98% — also experience GI symptoms, gastroenterologists may be encountering them more commonly than realized, Lucinda A. Harris, MD, of the Mayo Clinic School of Medicine, in Scottsdale, Arizona, explained to Medscape Medical News .
'As our knowledge in gastroenterology has progressed, we realize that hypermobility itself predisposes individuals to disorders of brain-gut interaction,' she said. 'We may only be seeing the tip of the iceberg when it comes to diagnosing patients with hypermobility.'
Additionally, 'many of these patients have POTS, which has also been increasingly diagnosed,' Harris added. 'The strong overlap of these conditions prompted us to present this data.'
With a lack of evidence-based understanding of the overlapping syndromes, the AGA's guidance does not carry formal ratings but is drawn from a review of the published literature and expert opinion.
In addition to the key recommendation of being aware of the observed combination of syndromes, their recommendations include:
Regarding testing: Testing for POTS/MCAS should be targeted to patients presenting with clinical manifestations of the disorders, but universal testing for POTS/MCAS in all patients with hEDS or hypermobility spectrum disorders is not currently supported by the evidence, the guidance advises.
Gastroenterologists seeing patients with disorders of gut-brain interaction should inquire about joint hypermobility and strongly consider incorporating the Beighton score for assessing joint hypermobility into their practice as a screening tool; if the screen is positive, gastroenterologists may consider applying 2017 diagnostic criteria to diagnose hEDS or offer appropriate referral to a specialist where resources are available, the AGA recommends.
Medical management: Management of GI symptoms in hEDS or hypermobility spectrum disorders and POTS/MCAS should focus on treating the most prominent GI symptoms and abnormal GI function test results.
In addition to general disorders of gut-brain interactions and GI motility disorder treatment, management should also include treating any symptoms attributable to POTS and/or MCAS.
Treatment of POTS may include increasing fluid and salt intake, exercise training, and use of compression garments. Special pharmacological treatments for volume expansion, heart rate control, and vasoconstriction with integrated care from multiple specialties (eg, cardiology, neurology) should be considered in patients who do not respond to conservative lifestyle measures.
In patients presenting to gastroenterology providers, testing for mast cell disorders including MCAS should be considered in patients with hEDS or hypermobility spectrum disorders and disorders of gut-brain interaction with episodic symptoms that suggest a more generalized mast cell disorder involving two or more physiological systems. However, current data does not support the use of these tests for routine evaluation of GI symptoms in all patients with hEDS or hypermobility spectrum disorders without clinical or laboratory evidence of a primary or secondary mast cell disorder, the AGA noted.
Harris noted that patients presenting with gut-brain disorders are often mistakenly classified as having irritable bowel syndrome or dyspepsia, whereas these conditions may be affecting the GI disorders they have.
'For example, a patient with Ehlers-Danlos syndrome might have problems with constipation, which is impacted by pelvic floor dysfunction,' she explained. 'Due to their hypermobility, they may experience more pelvic floor descent than usual.'
'If we do not recognize this, the patient risks developing rectal prolapse or not effectively addressing their constipation.'
Regarding patient characteristics, Harris noted that those with hEDS and POTS appear to more likely be women and tend to present in younger patients, aged 18-50 years. Of note, there is no genetic test for hEDS.
'The take-home point for clinicians should be to consider POTS and Ehlers-Danlos syndrome when encountering young female patients with symptoms of palpitations, hypermobility, and orthostatic intolerance,' she said.
'Recognizing hypermobility is crucial, not only for GI symptoms but also to prevent joint dislocations, tendon ruptures, and other connective tissue issues.'
Clinicians are further urged to 'offer informed counseling, and guide patients away from unreliable sources or fragmented care to foster therapeutic relationships and evidence-based care,' the AGA added.
Deciphering Gut-Brain Disorder Challenges
Commenting to Medscape Medical News , Clair Francomano, MD, a professor of medical and molecular genetics at the Indiana University School of Medicine, in Indianapolis, said the new guidance sheds important light on the syndromes.
'I'm delighted to see this guidance offered through the AGA as it will encourage gastroenterologists to think of EDS, POTS and MCAS when they are evaluating patients with disorders of gut-brain interaction,' Francomano said.
'This should allow patients to receive more accurate and timely diagnoses and appropriate management.'
Francomano noted that the Ehlers-Danlos Society, which provides information for clinicians and patients alike on the syndromes, and where she serves on the medical scientific board, has also been active in raising awareness.
'While co-occurrence of POTS and MCAS with EDS has in fact been recognized for many years, I do think awareness is increasing, in large part due to the advocacy and educational efforts of the Ehlers-Danlos Society,' she said.
The take-home message? 'When clinicians see disorders of the gut-brain axis, POTS or MCAS, they should be thinking, 'Could this be related to joint hypermobility or Ehlers-Danlos syndrome?'' Francomano said.