Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes

Botrus, Gehan; Baker, Omar Ghazi; Borrego, Erica; Ngamdu, Kyari Sumayin; Teleb, Mohamed; Martinez, J. Lafuente; Maldonado, Gerardo García; Hussein, Ahmed M.; McCallum, Richard W.

doi:10.1016/j.amjms.2018.03.001

Cited by 22 publications

(18 citation statements)

References 31 publications

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“…Functional gastrointestinal disorders are reported to be more common in patients with a non-inflammatory connective tissue disorder known as benign joint hypermobility syndrome (JHS) [16, 17]. JHS is defined as musculoskeletal symptoms in a hypermobile individual in the absence of systemic rheumatological disease, and its prevalence is around 3% of the population [18, 19].…”

Section: Introductionmentioning

confidence: 99%

Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study

et al. 2019

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Background The low fermentable oligosaccharide, disaccharide, monosaccharide and polyol (FODMAP) diet causes significant clinical improvement in patients with irritable bowel syndrome (IBS). Joint hypermobility syndrome (JHS), defined as musculoskeletal symptoms in a hypermobile individual in the absence of systemic rheumatological disease, may be associated with functional gastrointestinal symptoms, including IBS. The aim of this study is to examine whether JHS can affect the response to the low FODMAP diet in patients with IBS. Methods In this retrospective study, we included patients with IBS according to Rome III criteria who had followed a low FODMAP diet. Symptoms scores were measured before and after the low FODMAP diet. Results A total of 165 patients (130 females, age 44 ± 14 years) were included. Diarrhea predominant IBS (IBS-D) was present in 40.6% of our patients while JHS was present in 21.2%. The score for abdominal pain was higher for JHS compared to non-JHS prior to intervention (P = 0.011). Symptoms improved in both groups of patients after a low FODMAP diet (P < 0.0001). The largest effects were shown with significant decreases of the average score and bloating. When broken down by JHS and IBS type, a low FODMAP diet significantly improved pain, bloating, diarrhea, constipation, and the average score with the largest effect in JHS/constipation predominant IBS (IBS-C), JHS/mixed IBS and unclassified IBS (IBS-M), JHS/IBS-D, non-JHS/IBS-C and JHS/IBS-M, respectively. Conclusions Our study suggests that a low FODMAP diet has a greater effect on IBS symptoms in JHS than non-JHS patients.

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Section: Introductionmentioning

confidence: 99%

Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study

et al. 2019

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“…Perhaps unsurprisingly, therefore, multiple prospective and retrospective studies have implied that a significant association exists between disorders associated with TNX deficiency and functional GI disorders including gastro‐oesophageal reflux disease (GORD), delayed gastric emptying and postprandial distress syndrome, pain and irritable bowel syndrome (IBS) (summarized in Botrus et al . ). ECM proteins, including the tenascins, are clearly critical for gut wall infrastructure; until now, the characteristic connective tissues abnormalities that occur in response to TNX deficiency were assumed to be responsible for the observed increased compliance and stretch capacity of GI muscle.…”

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confidence: 97%

Extracellular matrix proteins in the gastrointestinal tract: more than a supporting role

Browning

2018

The Journal of Physiology

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“…In our patient, her musculoskeletal symptoms from EDS were exacerbated by subcutaneous oedema due to HAE. Extra-articular manifestations of EDS that she experienced included irritable bowel like syndrome (abdominal pain with diarrhoea) and multiple abdominal aneurysms – both of which have been documented in various forms of EDS 2 4 5 7…”

Section: Discussionmentioning

confidence: 99%

“…The highest mortality is related to arterial, uterine and intestinal rupture 4. Other consequences include joint instability, tissue fragility resulting in bleeding with minimal trauma, poor wound healing and postoperative instability and recurrent failed procedures 5–7. Extra-articular manifestations include orthostatic tachycardia, gastric emptying abnormalities and neuropsychiatric conditions 7.…”

Section: Introductionmentioning

confidence: 99%

“…Other consequences include joint instability, tissue fragility resulting in bleeding with minimal trauma, poor wound healing and postoperative instability and recurrent failed procedures 5–7. Extra-articular manifestations include orthostatic tachycardia, gastric emptying abnormalities and neuropsychiatric conditions 7. There is limited literature regarding immunological dysregulation in EDS 8–10…”

Section: Introductionmentioning

confidence: 99%

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Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome

2019

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A 23-year-old woman was referred to the allergy and immunology clinic for recurrent abdominal, cutaneous and joint swelling and pain with a history of mucosal infections since childhood. Her history and clinical findings were suggestive of two rare and complex disorders, hereditary angioedema (HAE) and Ehlers-Danlos syndrome (EDS). Her recurrent episodes of abdominal and joint pain were initially misattributed to more common diagnoses such as esophagitis, depression and chronic pain syndrome. However, the coexistence of HAE and EDS likely contributed to a delay in diagnoses as the combination of these two rare but overlapping disorders is less understood by physicians. She had persistently low levels of C4 and C1-esterase inhibitor (C1-INH) with low to low-normal C1-esterase function, normal C1Q and no C1Q antibodies. In the setting of recurrent abdominal pain with cutaneous swelling, this supported the diagnosis of HAE type I. The increase in joint extensibility with recurrent shoulder subluxations since childhood was a manifestation of EDS. Although no known genetic mutations were identified for EDS, her diagnosis was confirmed by a geneticist based on her clinical phenotype. Before the diagnosis of HAE and EDS, our patient had at least 100 visits/year to the emergency department/hospitalisations for these recurrent symptoms. After starting on C1-INH replacement therapy, the frequency has decreased 10-fold. She also noted a 70% improvement in her quality of life. Familiarity with these rare disorders will assist healthcare providers in recognising HAE and EDS and include them as part of their differential diagnoses. Early diagnosis is important for a patient’s well-being as both these chronic disorders have been associated with poor quality of life. Additionally, proper diagnoses will reduce healthcare costs by preventing unnecessary procedures due to misdiagnoses. Proper treatment will help to decrease hospitalisations and avoidance of life-threatening consequences (such as asphyxiation from fatal laryngeal attacks of HAE and rupture of aneurysms in EDS).

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Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes

Cited by 22 publications

References 31 publications

Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study

Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study

Extracellular matrix proteins in the gastrointestinal tract: more than a supporting role

Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome

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