Non-operative management of diverticular perforation in a patient with suspected Ehlers–Danlos syndrome

Casey, Mairead; Robertson, Ian; Waters, Peadar S; Hanaghan, John; Khan, Waqar; Barry, Kevin

doi:10.1016/j.ijscr.2013.12.024

Cited by 10 publications

(5 citation statements)

References 13 publications

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“…None of them were rejected based on assessed quality alone, so that a large population could be obtained, based on which it is possible to draw firm conclusions. These 112 papers report on 467 patients (197 males, 238 females, and 32 not defined) from 342 unrelated families, and include 29 papers on classical EDS (cEDS; COL5A1/2 : n = 25; COL1A1 p.(Arg312Cys): n =4), 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 6 on classical-like EDS (clEDS; TNXB ), 52 , 53 , 54 , 55 , 56 , 57 three on cardiac-valvular EDS (cvEDS; COL1A2 ), 58 , 59 , 60 ten on arthrochalasia EDS (aEDS; COL1A1/2 ), 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 six on dermatosparaxis EDS (dEDS; ADAMTS2 ), 71 , 72 , 73 , 74 , 75 , 76 22 on kyphoscoliotic EDS (kEDS; PLOD1 : n = 17, FKBP14 : n = 5), 4 , 77 , ...…”

Section: Resultsmentioning

confidence: 99%

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt

Damme

Malfait

2018

Genetics in Medicine

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PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among “nonvascular” EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications.ResultsA total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS.ConclusionPotentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.

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Section: Resultsmentioning

confidence: 99%

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt

Damme

Malfait

2018

Genetics in Medicine

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“…Surgical management of patients with vascular EDS who develop acute GI complications such as bleeding or perforation has been described in the literature. These approaches range from refrain from intervention with conservative non‐surgical management of intestinal perforation [Casey et al, ] to more conventional surgical management with resections of appropriate segments of the gut. It has been suggested that during surgery, all organs must be treated gently due to tissue fragility [Omori et al, ].…”

Section: Methodsmentioning

confidence: 99%

Gastrointestinal involvement in the Ehlers–Danlos syndromes

Fikree¹,

Chelimsky²,

Collins³

et al. 2017

American J of Med Genetics Pt C

103

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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.

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“…Hematomas or other vascular complications have been reported in the Ehlers–Danlos syndrome, mostly but not exclusively, in the vascular type of the disease [ 47 ]. Moreover, the prevalence of rectoceles, hemorrhoids complicated with bleeding, as well as that of diverticular perforation, is increased in the Ehlers–Danlos syndrome [ 48 ]. The digestive involvement may overlap with irritable bowel syndrome but may also be the effect of structural abnormalities of the digestive tract such as visceroptosis, hiatus hernia, megacolon, diverticula, or dysautonomia caused by enteric nerve fibers involvement in this setting [ 49 ].…”

Section: Iron Deficiencymentioning

confidence: 99%

Anemia in Sports: A Narrative Review

Damian

Vulturar

et al. 2021

Life

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Recent years have brought about new understandings regarding the pathogenesis of anemia in sports. From hemodilution and redistribution considered to contribute to the so-called “sports anemia” to iron deficiency caused by increased demands, dietary restrictions, decreased absorption, increased losses, hemolysis, and sequestration, to genetic determinants of different types of anemia (some related to sport), the anemia in athletes deserves a careful and multifactorial approach. Dietary factors that reduce iron absorption (e.g., phytate, polyphenols) and that augment iron’s bioavailability (e.g., ascorbic acid) should be considered. Celiac disease, more prevalent in female athletes, may underlie an unexplained iron deficiency anemia. Iron loss during exercise occurs in several ways: sweating, hematuria, gastrointestinal bleeding, inflammation, and intravascular and extravascular hemolysis. From a practical point of view, assessing iron status, especially in the athletes at risk for iron deficiency (females, adolescents, in sports with dietary restrictions, etc.), may improve the iron balance and possibly the performance. Hemoglobin and serum ferritin are measures that are easily employable for the evaluation of patients’ iron status. Cutoff values should probably be further assessed with respect to the sex, age, and type of sport. A healthy gut microbiome influences the iron status. Athletes at risk of iron deficiency should perform non-weight-bearing, low-intensity sports to avoid inducing hemolysis.

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Non-operative management of diverticular perforation in a patient with suspected Ehlers–Danlos syndrome

Cited by 10 publications

References 13 publications

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Gastrointestinal involvement in the Ehlers–Danlos syndromes

Anemia in Sports: A Narrative Review

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