Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc.

The 2017 international classification of the Ehlers-Danlos syndromes.

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.

Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study.

BACKGROUND: Many individuals with Ehlers-Danlos Syndrome (EDS) are hypermobile, suffer from long term pain, and have complex health problems. Since these sometimes have no objective physical signs, individuals with EDS sometimes are referred for psychiatric evaluation. The aim was therefore to identify the level of anxiety and quality of life in a Swedish group of individuals with EDS. METHODS: A postal survey in 2008 was distributed to 365 members over 18 years of the Swedish National EDS Association and 250 with EDS diagnosis responded. Two questionnaires, the Hospital Anxiety and Depression Scale (HADS) and SF-36, were used. A Swedish population study was used to compare results from SF-36. Independent Student's t-test was used to compare differences between groups, possible relationships were tested using Spearman's correlation coefficient and the General Linear Model was used for regression analyses. Higher scores on HADS represent higher levels of anxiety and depression and higher scores on SF-36 represent higher quality of health. RESULTS: Of the respondents 74.8% scored high on anxiety and 22.4% scored high on depression on the HADS. Age, tiredness and back pain was independently associated with the HAD anxiety score in a multiple regression analysis, When comparing the SF-36 scores from the EDS group and a Swedish population group, the EDS group scored significantly lower, indicating lower health-related quality of health than the general population (p < 0.001). CONCLUSIONS: In comparison with a Swedish population group, a lower health-related quality of life was found in the EDS group. Also, higher levels of anxiety and depression were detected in individuals with EDS. The importance to explore the factors behind these results and what initiatives can be taken to alleviate the situation for this group is emphasized.

Women with Ehlers-Danlos syndrome experience low oral health-related quality of life.

AIMS: To investigate the perceived impact of oral health-related quality of life problems in individuals with Ehlers-Danlos syndrome. METHODS: Members of the Swedish Ehlers-Danlos Syndrome Association completed the Oral Health Impact Profile (OHIP-14). Of the 250 participating individuals, 223 were women, and they were the main focus of the analyses. The results were compared with a previous study of the oral health impact on quality of life in the Swedish population. Statistical methods used for comparison were the Student t and chi-square tests. RESULTS: The mean OHIP-14 value for the entire Ehlers-Danlos syndrome group was 11.1. The mean for women was 11.8, which was significantly higher than 6.8 of the comparison group. The OHIP-14 score varied among age groups, and the highest mean value was found in the age group between 56 and 65 years of age. The most statistically significant differences between the subjects with Ehlers-Danlos syndrome and the comparison group were found for OHIP items 3, 4, and 8: "I have had pain in the mouth," "I have had discomfort when eating," and "I have been forced to interrupt meals." CONCLUSION: It is well-known that Ehlers-Danlos syndrome has a considerable impact on health-related quality of life, and this study is the first to reveal that women with Ehlers-Danlos syndrome report a low oral health-related quality of life as measured with the OHIP-14. Dimensions that were particularly relevant were physical pain, psychologic discomfort, and handicap.

Dignity not fully upheld when seeking health care: experiences expressed by individuals suffering from Ehlers-Danlos syndrome.

AIM: The principle of human dignity has assumed importance in ethics and constitutional law throughout the 20th century in the Western world. It calls for respect of each individual as unique, and of treating him or her as a subject, never as a mere object. As such, the principle constitutes an ethical cornerstone in health care. Patients suffering from Ehlers-Danlos syndrome (EDS) challenge medical care and knowledge in health-care professionals' as symptoms sometimes are vague. Individuals with this disorder have reported not being respected when seeking health care. PURPOSE: To describe encounters in health-care situations when individuals suffering from EDS experienced that their dignity was not fully upheld. A further aim was to describe the long-term consequences of these experiences. METHOD: A study-specific questionnaire was designed, where individuals with EDS described their encounters with health care from a personal perspective. RESULTS: After qualitative content analysis, the following five categories were identified: 'Being ignored and belittled by health-care professionals,' 'Being assigned psychological and/or psychiatric explanations', 'Being treated and considered merely as an object', 'Being trespassed in one's personal sphere' and 'Being suspected of family violence'. Consequences of these encounters were 'Mistrusting the physician' and 'Risking bad health'. CONCLUSIONS: The memory of not being respected is substantial for individuals with EDS and can last for years. As a result, lack of trust for the health-care system is created and they may experience difficulties in future encounters with health care. Therefore, health-care professionals should base their actions on norms that protect human dignity and confirm each patient as a unique human being with resources and abilities to master their own life.

Accuracy in documentation - a study of peripheral venous catheters.

AIM: The aim was to explore the extent of postinsertion documentation of peripheral venous catheters (PVCs) in patients' medical records, including the descriptions used to explain the PVC insertion site and determinants of PVC documentation. BACKGROUND: Documentation in medical records is an important precondition for the safe handling of patients PVC. However, factors associated with documentation of PVCs and how the insertion site is described in medical records has not previously been studied. DESIGN: This was a cross-sectional and descriptive study. METHODS: A sample of 933 adult inpatients (women 45.7%) with PVC was recruited from medical and surgical wards at one university hospital and two general hospitals. A data collection form was used for registration of the insertion site of the PVC, hand side, lumen size, patient's age and gender. PVC documentation from medical records was transcribed. Factors associated with the documentation were analysed using logistic regression. RESULTS: Ten descriptions used to explain the insertion site of the PVCs were identified in the patients' medical record. Any kind of PVC documentation was found in 71.8% and documentation that included insertion site, hand side and lumen size was recorded in 46.2% of the observed PVCs. Multivariate logistic regression revealed that PVC documentation was associated with medical wards at general hospitals (OR 4.59; 95% CI 3.10-6.81; p < 0.0001) and smaller lumen size (22 gauge) (OR 1.81; 95% CI 1.19-2.84, p = 0.006). CONCLUSION: The extent of PVC documentation in medical records was low and descriptions used to explain the PVC insertion sites were found to vary appreciably. General hospitals and in particular medical wards and smaller lumen size, were associated with PVC documentation that included insertion site, hand side and lumen size. RELEVANCE TO CLINICAL PRACTICE: Development of terms is needed to assure standardisation of postinsertion PVC documentation. Education of nurses on proper PVC documentation should be given priority.

Early assessment of nutritional status in patients scheduled for colorectal cancer surgery.

Nutritional support is important to optimize treatment outcomes in colorectal cancer surgery. Using retrospective review of patients' medical records, we sought to identify the kinds of nutritional problems patients with colorectal cancer reported on their first visit to the surgeon to support those at risk of malnutrition. After reviewing data from the Patient-Generated Subjective Global Assessment of Nutritional Status, patients had a supportive counseling meeting about nutrition with a nurse. Of the 153 patients, 65% were diagnosed with colon cancer and 35% with rectal cancer. Eighteen percent of those with colon cancer were overweight, and 12% were obese. Of those with rectal cancer, 10% were overweight, and 7% were obese. Weight loss was reported by 18% of the patients with colon cancer and by 12% of the patients with rectal cancer. To identify the patients who need nutritional support before colorectal cancer surgery, it is important to first identify the patients' nutritional status. When the focus is on surgery, it is possible that these problems are not mentioned if no questions are asked. Nutritional assessment at the outpatient department makes it possible to use the time lapse between examination and surgery to improve the nutritional status.

Foot pain and disability in individuals with Ehlers-Danlos syndrome (EDS): impact on daily life activities.

PURPOSE: To investigate the amount and severity of podiatric problems in individuals with EDS as well as the consequences on daily life activities, and to compare these results with the results from a comparison group of the general population. METHOD: The Manchester Foot Pain and Disability Schedule (MFPDS) and a demographic and foot-specific form were mailed. RESULTS: One hundred and thirty-six individuals with EDS and 292 from the comparison group responded. The median MFPDS total score in the EDS group was 33 (range 17-49) (mean 32, SD 8) and in the comparison group 17 (range 17-41) (mean 19, SD 4) (P < 0.001). The items most frequently marked with 3 points in the EDS group were: 'I avoid standing for a long time', 'I catch the bus or use the care more often', and 'I get irritable when my feet hurt' (56, 46 and 43%, respectively). When comparing the NRS score (i.e. Numeric Rating Scale) regarding pain intensity between the EDS group (median 5) and the comparison group (median 0), a statistically significant difference was found (P < 0.001). Other foot problems than pain were reported by 73% (n = 100) of the EDS group and by 21% (n = 60) of the comparison group (P < 0.001). The presence of flat feet in the EDS group and the comparison group was reported by 55% (n = 75) and 8% (n = 23) respectively. CONCLUSION: Individuals' with EDS endure difficulties with their mobility due to their foot problems and related disability. It is therefore of utmost importance to find ways to assess the actual foot status for this group and to support the individuals with solutions to their problems with ambulation.

Participation in society for people with a rare diagnosis.

BACKGROUND: Many rare diagnoses are syndromes that have complex consequences with a significant impact on the individuals' everyday life. Adults with rare diagnoses are a growing group and knowledge about their needs is often scarce. OBJECTIVE: The objective was to investigate the experiences of adults living with different rare diagnoses, how they perceived their difficulties, needs and participation in everyday life, and to identify some common issues and problems. METHOD: Individuals with four different diagnoses were interviewed in four focus groups: Artrogryposis Multiplex Congenita AMC (n = 9), Dysmelia (n = 11), 22q11 deletion syndrome (n = 10) and Klinefelter syndrome (n = 8). The interviews focused on the following topics; education, working life, daily routines, sleep, housing, health care and society support system contacts. The study was conducted as qualitative research using content analysis. RESULTS: The participants described their needs and perceived consequences from not having their everyday needs met. A major theme covers most of the participants' experiences: Complex and varying consequences of the condition have an impact on their participation in education, working and everyday life, mostly due to contextual barrier factors. CONCLUSION: The interviewees are affected by different rare conditions. Despite these differences they face similar challenges, due to the low prevalence of their condition and the resulting lack of both knowledge and holistic perspective of service providers. To gather, disseminate and implement information about rare conditions in society is thus a very important task. It is equally important to improve the ways to transfer information and to promote cooperation between service providers.

Satisfactory reliability among nursing students using the instrument PVC ASSESS to evaluate management of peripheral venous catheters.

PURPOSE: Nursing students should be given opportunities to participate in clinical audits during their education. However, audit tools are seldom tested for reliability among nursing students. The aim of this study was to present reliability among nursing students using the instrument PVC assess to assess management of peripheral venous catheters (PVCs) and PVC-related signs of thrombophlebitis. METHODS: PVC assess was used to assess 67 inserted PVCs in 60 patients at ten wards at a university hospital. One group of nursing students (n=4) assessed PVCs at the bedside (inter-rater reliability) and photographs of these PVCs were taken. Another group of students (n=3) assessed the PVCs in the photographs after 4 weeks (test-retest reliability). To determine reliability, proportion of agreement [P(A)] and Cohen's kappa coefficient (κ) were calculated. RESULTS: For bedside assessment of PVCs, P(A) ranged from good to excellent (0.80-1.0) in 55% of the 26 PVC assess items that were tested. P(A) was poor (<0.70) for two items: "adherence of inner dressing to the skin" and "PVC location." In 81% of the items, κ was between moderate and almost perfect: moderate (n=5), substantial (n=3), almost perfect (n=5). For edema at insertion site and two items on PVC dressing, κ was fair (0.21-0.40). Regarding test-retest reliability, P(A) varied between good and excellent (0.81-1) in 85%-95% of the items, and the κ ranged between moderate and almost perfect (0.41-1) in 90%-95%. CONCLUSIONS: PVC assess demonstrated satisfactory reliability among nursing students. However, students need training in how to use the instrument before assessing PVCs.

Subjective health complaints in individuals with Ehlers-Danlos syndrome: a questionnaire study.

BACKGROUND: Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder where symptoms such as hyper mobile joints, fragile tissues, a bleeding tendency and chronic pain are frequent. Consequently, functional disability is common. OBJECTIVE: In the present study we investigated the prevalence of subjective health complaints in a Swedish EDS group. DESIGN, PARTICIPANTS AND METHOD: Members of the Swedish EDS Association were invited to respond to the questionnaire Subjective Health Complaints Inventory (SHCI). Of the 365 individuals receiving questionnaires, 250 diagnosed individuals >18 years (mean age 46.15; SD 12) responded. The overall response rate was 68% (females 89.2%; n=223). RESULTS: The total number of persons reporting any health complaint was 247 (99%). The mean number of complaints was 16.1 (SD 5.7) in the whole group. The complaints reported were musculoskeletal by 246 (98%), pseudoneurological by 241 (96%), gastrointestinal by 236 (94%), allergic by 182 (73%) and influenza-like by 144 (58%) persons. Substantial complaints were reported by 240 (96%) persons. Women reported a significantly higher number of complaints, mean total SHC, and severity per complaint compared to men and the reference group; the Norwegian general population. CONCLUSION: Swedish females with EDS have higher number of and more substantial health complaints like tiredness and different localisations of pain than the compared Norwegian general population. Musculoskeletal, pseudoneurological and gastrointestinal complaints are most frequent in individuals with the hyper mobile EDS type.

A new reliable tool (PVC assess) for assessment of peripheral venous catheters.

RATIONALE AND AIMS: To evaluate the extensive use of peripheral venous catheters (PVCs), including catheter-related complications, a reliable tool for PVC assessment is needed. The aim of this study was to develop such a tool to evaluate PVCs in relation to management, documentation and signs and symptoms of thrombophlebitis (TH), as well as to determine its inter-rater and test-retest reliability. METHOD: The tool development included confirmation of content and face validity. Two groups of registered nurses used the new tool (PVC assess) to assess PVC management and signs of TH independently. Group A (n=3) assessed 26 items in 67 PVCs bedside (inter-rater reliability). Group B (n=3) assessed photographs (67 PVCs, 21 items) of the same PVCs as those in Group A with a 4-week interval (test-retest reliability). Proportion of agreement P(A) and Cohen's kappa were calculated to evaluate inter-rater and test-retest reliability. RESULTS: Among nurses assessing PVCs at bedside, the P(A) was good to excellent (0.80-1) in 96% of the items in PVC assess. In 80% of the items kappa was substantial to almost perfect (0.61-1). TH sign erythema fell into the fair range (kappa=0.40). In test-retest reliability analysis the P(A) was within the good and excellent range (0.80-1.0) and kappa varied from moderate to almost perfect (0.41-1.0) in 95% of the items. One item 'outer dressing is clean' was in fair range (0.21-0.40). CONCLUSIONS: The PVC assess instrument shows satisfactory inter-rater and test-retest reliability. Reliability tests on reviewing documentation remain to be performed.

The district nurse's perceptions of elderly patients' oral health: a qualitative interview study.

OBJECTIVE: The aim of this qualitative study based on interviews was to explore the perceptions that district nurses have of the oral health of elderly patients. MATERIAL AND METHODS: The criterion for inclusion was being a district nurse working in a primary health-care centre in the County of Stockholm. The respondents were asked open-ended questions about their perceptions of oral health and about the impact of oral problems on the general health and well-being of elderly patients. The analyses started at the first interview and proceeded in parallel until no further relevant information could be obtained. Analysis of the open-ended questions was inspired by grounded theory methodology and comprised four stages: native reading, open coding, axial coding, and selective coding. RESULTS: The one core category identified, namely indistinct professional duties of the district nurse, formed the central meaning of the district nurse's perceptions of oral health in elderly patients. This related to two other categories labelled 'insights into the district nurse's professional role' and 'obstacles for the district nurse', with sub-categories. CONCLUSION: Although the district nurses in this study were aware of the impact of oral health in old age, their attitude was that this was a matter for dentistry.

Temporomandibular joint problems and self-registration of mandibular opening capacity among adults with Ehlers-Danlos syndrome. A questionnaire study.

OBJECTIVES: To study maximal mandibular opening capacity and the prevalence of temporomandibular joint (TMJ) problems reported among a larger group of adults with Ehlers-Danlos syndrome (EDS). Furthermore, to compare proportions of disorders with those in a cohort of randomized population- based controls. DESIGN: A questionnaire study with self-registration of maximal mandibular opening capacity. SETTING AND SAMPLE POPULATION: One hundred and fourteen persons with EDS and 114 controls in a randomized population-based cohort. Experimental variables - Self-registered maximal mandibular opening capacity values that were calculated from the markings of maximal interincisal distance on spatulas and the assessments of overbite with the aid of photos. Questions concerning EDS, TMJ problems and other related questions. OUTCOME MEASURE: Mean values of maximal mandibular opening capacity compared between groups. Proportions of affirmative answers about TMJ problems compared between persons with EDS and controls who did not have the syndrome. RESULTS: The EDS persons who reported problems with poor mouth opening capacity when biting into thick pieces of food had a lower mean maximal mandibular opening value compared with the other EDS persons (p < 0.05). The proportions of affirmative answers concerning mobile joints during mouth opening, present TMJ problems, poor mouth opening capacity when biting into thick food, clicking, crepitations and permanent locking were greater compared with the controls (p < 0.05). CONCLUSION: These data corroborate the reports in literature that persons with EDS are naturally predisposed to TMJ problems. The self-registration of maximal mandibular opening capacity was a useful diagnostic tool to provide an objective clinical measure of movement capacity of the TMJ. The clinical measure was in line with the affirmative answers on having problems with poor mouth opening capacity among the EDS persons.

Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study.

OBJECTIVES: To study the prevalence of oral problems reported among a large group of adults with Ehlers-Danlos Syndrome (EDS). Furthermore, to compare proportions of disorders and general psychological well-being with those in a cohort of randomized population-based controls. DESIGN: A questionnaire study. SETTING AND SAMPLE POPULATION: A total of 265 persons with EDS (response rate 77%) and 750 controls (response rate 63%) in a population-based cohort. Sixty persons were excluded from the EDS group (support members, children, undiagnosed EDS) leaving a final study group of 144 adults. The final control group consisted of 331 persons since many had sent back unanswered questionnaires. EXPERIMENTAL VARIABLES: Questions concerning general and oral symptoms, VAS scales for masticatory muscle pain ratings and General Health Questionnaire (GHQ12) questions were included. OUTCOME MEASURE: Proportions of affirmative answers in EDS group and controls were compared. Mean values for ratings on VAS scales. Proportions of GHQ12 scores with a threshold score of four or more. RESULTS: The proportions of affirmative answers for persons with EDS concerning general health problems, oral problems and masticatory muscle symptoms were significantly higher compared with controls. In the EDS group those who had daily pain in the masticatory muscles had significantly higher mean values on the VAS scales compared with those who had pain a few days per month. A GHQ12 score of four or more was significantly more common in the EDS group than in the controls, suggesting that a decline in psychological well-being was also more common in this group. CONCLUSION: It is important that dental practitioners should be aware of the oral problems associated with EDS and the impact the disease has on quality of life.

Acceptance of disability and sense of coherence in individuals with Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a relatively rare, inherited connective tissue disorder and skin hyperextensibility, joint hypermobility, chronic joint and limb pain, blood vessel and tissue fragility are frequent symptoms. The aims of this study were to describe the degree to which individuals with EDS accept and cope with perceived limitations related to the syndrome, and to determine the relationships between acceptance of disability (AD), sense of coherence (SOC), functional health status and background data. Four questionnaires were mailed: the AD scale Modified (ADM), the SOC Scale, the Sickness Impact Profile (SIP) and a background form. The respondents with EDS were recruited through the EDS National Association in Sweden and the response rate was 74% (69 females and eight males). The Ethical Committee at Huddinge University Hospital (ref. no. 152/95) approved the study. This study has shown that the level of AD and SOC in individuals with EDS is similar to other patient groups, e.g. individuals with ostomy and with diabetes. Further, the SOC was in concordance with that of the general population. Those working full-time accepted their disability to a greater degree than those on sick leave or disability pension. A multiple regression analysis showed that a greater AD was associated with a higher level of SOC and a better functional health status. The SOC and SIP together accounted for 50% of the variance in the ADM. For health promotion in nursing practice it is important to have insight into the problem areas which may influence the overall life situation for an individual with EDS. A key issue for nurses is to identify individuals with low acceptance of their disease and/or low SOC in order to support these persons' adaptation process. Future research on EDS may be directed towards projects focusing on the development and implementation of models to strengthen the level of AD and SOC in this group.

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Ehlers-Danlos VIII (EDS-VIII) is an autosomal dominant disorder characterized by severe early-onset periodontal disease in conjunction with the features of Ehlers-Danlos syndrome (EDS). We performed a genomewide linkage search in a large Swedish pedigree with EDS-VIII and established linkage to a 7-cM interval on chromosome 12p13, generating a maximum multipoint LOD score of 5.17. Analysis of four further pedigrees with EDS-VIII revealed two consistent with linkage to 12p13 and two in which linkage could be excluded, indicating that EDS-VIII is a genetically heterogeneous disorder. Chromosome 12p13 has not previously been implicated in either EDS or periodontal disease and contains no known collagen genes or collagen-processing enzymes. Mutational screening of the microfibril-associated glycoprotein-2 gene, a strong candidate within the minimal interval, did not reveal any likely pathogenic mutations.