Symptom complaints and impact on functioning in youth with hypermobile Ehlers–Danlos syndrome

2019 ◽  
Vol 24 (3) ◽  
pp. 444-457
Author(s):  
Susan T Tran ◽  
Anjana Jagpal ◽  
Marissa L Koven ◽  
Carolyn E Turek ◽  
Julia S Golden ◽  
...  
Keyword(s):  
Psychological Functioning ◽  
Functional Disability ◽  
Somatic Symptoms ◽  
Physical Symptoms ◽  
Connective Tissue Disorder ◽  
Anxiety And Depression ◽  
Ehlers Danlos Syndrome ◽  
Cumulative Impact ◽  
Danlos Syndrome ◽  
Symptom Complaints

Hypermobile Ehlers–Danlos syndrome (hEDS), a genetic connective tissue disorder, involves several body systems which makes symptom management and functioning difficult. The aim of this study was to understand pediatric hEDS patients’ symptoms and primary complaints. Additionally, we examined the cumulative impact of symptoms on physical and psychological functioning. Thirty-four youth with hEDS were recruited from a genetics clinic and reported the hardest thing about having hEDS, their pain, fatigue, physical symptoms, functional disability, anxiety, and depression. Physical symptoms (pain and fatigue) and limitations (keeping up with friends) were reported as the most difficult parts of having hEDS. A higher number of somatic symptoms was the strongest predictor of disability, anxiety, and depression. Physical symptoms are subjectively distressing and significantly related to impairments in physical and psychological functioning. Thus, addressing these varied symptoms in treatment may yield better functioning in youth with hEDS.

scholarly journals Ehlers-Danlos syndrome presenting with primary nocturnal enuresis

2020 ◽  
Vol 13 (2) ◽  
pp. e231977
Author(s):  
Margarida Cunha ◽  
Mafalda Matias ◽  
Inês Marques
Keyword(s):  
Genetic Testing ◽  
Nocturnal Enuresis ◽  
Bladder Dysfunction ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Urinary Urgency ◽  
Beighton Score ◽  
Ehlers Danlos Syndrome ◽  
Primary Nocturnal Enuresis ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.

scholarly journals Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Timothy P. Plackett ◽  
Edward Kwon ◽  
Ronald A. Gagliano ◽  
Robert C. Oh
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Pain ◽  
Clinical Examination ◽  
Connective Tissue Disorder ◽  
Chronic Musculoskeletal Pain ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos syndrome-hypermobility type (EDS-HT) is a connective tissue disorder associated with chronic musculoskeletal pain. The diagnosis is based on simple clinical examination, although it is easily overlooked. Herein we present a case of EDS-HT associated with hemorrhoids and suggest that there may be an association between the two conditions.

scholarly journals Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

2018 ◽  
Vol 08 (02) ◽  
pp. 069-072
Author(s):  
Paushpala Sen ◽  
Merlin Butler
Keyword(s):  
Heart Failure ◽  
Cardiac Transplantation ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Gene Variant ◽  
In Silico Prediction ◽  
Ehlers Danlos Syndrome ◽  
Joint Dislocations ◽  
High Conservation ◽  
Danlos Syndrome

AbstractWe report a 13-year-old male patient with severe orthopedic problems including features of a connective tissue disorder and a heterozygous c.305T > A variant found within exon 3 of the autosomal dominant collagen (COL5A1) gene causing the classic Ehlers–Danlos syndrome. This variant has not been reported previously and identified as having an unknown clinical significance but classified as trending damaging per in silico prediction with high conservation among species. Our patient's father had the same gene variant and similar features of stretchable skin, easy bruising, and multiple joint dislocations. The father had unexplained heart failure requiring cardiac transplantation at 43 years of age.

scholarly journals Sleeve Gastrectomy in a Patient with Obesity and Ehlers-Danlos Syndrome: A Case Report

2020 ◽  
pp. 1-3
Author(s):  
Amanda Belluzzi ◽  
Amanda Belluzzi ◽  
M Foletto
Keyword(s):  
Bariatric Surgery ◽  
Sleeve Gastrectomy ◽  
Preoperative Assessment ◽  
Signs And Symptoms ◽  
Connective Tissue Disorder ◽  
Ehlers Danlos Syndrome ◽  
Upper Gi Series ◽  
Potential Risks ◽  
One Year ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder with a huge variety of signs and symptoms. Gastrointestinal manifestations may be present in up to 50% of patients. We here report bariatric surgery in a patient with EDS, focusing on management challenges, preoperative assessment and one-year outcome. A 56-year-old woman with hypermobility-type (HM) EDS, BMI 42,5 kg/m2 and hypertension underwent laparoscopic sleeve gastrectomy (LSG). She was uneventfully discharged on POD3. One-year after the operation her BMI was 28,3 kg/m2 and hypertension receded. Postoperative upper GI series (POD60) did show neither reflux nor esophageal dysmotility. Bariatric surgery in patients with EDS can be challenging due to the potential risks of wound healing. Proper preoperative assessment and follow up should be strongly recommended.

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