Britta Berglund

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.

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.

Symptoms and functional health status of individuals with Ehlers-Danlos syndrome (EDS).

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder that can have a substantial impact on daily life. The aims of this study were to describe the symptoms reported in a group of individuals with EDS and to investigate the impact on functional health status by means of the Sickness Impact Profile (SIP). Seventy-seven individuals, members of the Swedish EDS Association, completed 2 mailed questionnaires. The most frequent symptoms were related to activity, e.g., joint problems (75%), to pain (71%), and to skin/tissue (52%). Pain was reported by 37 individuals (48%) as their most severe symptom. The SIP results showed an overall mean score of 13.0 (females 13.9, males 5.6), compared with a Swedish reference group with a SIP score 1.3. Women with EDS reported a better functional health status than females with rheumatoid arthritis (overall SIP score 13.9 versus 21.4). In comparison with women with fibromyalgia, the EDS females rated their functional health status as worse on the physical dimension (p <0.05) and the subscale home management (p <0.05), and as better on the subscale work (p <0.05).Impact of EDS on the individual’s daily life needs to be acknowledged, assessed, and evaluated in healthcare.

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.

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 Cohens 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.