Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes

Abstract

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of connective tissue disorders with varying physical manifestations. There are no clear guidelines for addressing orthopedic concerns or reporting surgical outcomes in this population. This article reviews the literature, reports on a new study, and offers considerations prior to surgical intervention. The new study seeks to determine the effectiveness of surgical intervention in individuals with EDS. It is a retrospective chart review of 154 individuals clinically diagnosed with EDS who had orthopedic surgery >2 years ago at Hospital for Special Surgery. A total of 120 individuals were included in the study. One hundred eleven females and 9 males underwent a total of 320 orthopedic surgeries, of which 204 surgeries had available postoperative follow-up. The average age at surgery was 38.2 years (range: 7.6-83.3).Multiple post-operative complications (290) were reported in 91% of cases. Common complications were persistent pain/discomfort (45), continued subluxation/ dislocation (20), instability (19), pain/discomfort from hardware (17), and infection (16). Our results suggest that surgical outcomes are worse for individuals with EDS compared to the general population, a finding which is similar to other studies. Complications occurred more frequently in the EDS population than the average population, suggesting that surgery should be undertaken by a multidisciplinary team of clinicians with careful pre-operative planning and full knowledge of the risks and benefits. Guidelines for the care of this unique population must be established.

Hope for Hypermobility: Part 1—An Integrative Approach to Treating Symptomatic Joint Hypermobility

“…When treating pain, one must target the cause, location, and specific type of pain, which often coincides with working to stabilize the injured and surrounding joints 4,67. Should lower-risk options become exhausted, surgery may be required with caution due to the potential of poor wound healing, slow recovery progress, and remissions 68,69…”

“…4,67 Should lowerrisk options become exhausted, surgery may be required with caution due to the potential of poor wound healing, slow recovery progress, and remissions. 68,69…”

A gene network implicated in the joint-muscle pain, brain fog, chronic fatigue, and bowel irregularity of Ehlers-Danlos and “long” COVID19 syndromes

“…Underappreciation of these neuromuscular and autonomic problems and their exclusion from consensus findings [66] is a major reason for the diagnostic delays for males (7 years, 21-14) and females (13 years, 30-17) in Hypermobility measured by Beighton score [67] plus skin elasticity [68] are external indicators of EDSdysautonomia pathogenesis, the lesser fleshy constraint of more distensible vessels decreasing blood return to the brain with adrenergic reaction. More joint motion leads to wear-and-tear injuries (sprains--56% of women, ligament tears-36%, fractures--49%, stretch marks--59%, scars-43% and skeletal bends [69] or deformities (scoliosis-25% or flat feet-46%) necessarily joined by consequences of flexible tissue in other organs (see S1 Table for finding frequencies). Flexible glia, dura and vertebrae allow descent of the lower brain to produce Chiari deformation in 14% of women [70] plus back pain from spinal disc herniation or degeneration in 42% [13].…”

“…Patients having--systematic evaluations (% of P) 1261(66) 1064(69) 197(57)* 64(80) -----DNA testing ((% of P) 967(51) a 816(53) 151(44)* 23(29)* b 461(63) c --WES testing (% of P) 906(48) 777(50) 129(38)* 14(18)* 112(15)* --a potentially significant DNA variant (% of those having WES) 536(--at least one LkPath/Path DNA variant for EDS or DD by lab (% of V) --at least one LkPath/Path DNA variant for other diagnosis by lab (% of V) 181(--variant(s) with 4+ diagnostic utility for EDS or DD by author (% of V) 414(--variant(s) with 3+ diagnostic utility for EDS or DD by author (% of V) 122(--variant(s) with 2+ diagnostic utility for EDS or DD by author (% of V) a Gene panels were performed on 31 EDS patients (18 with variants, all systematically evaluated), allele testing on 30 EDS relatives (19 with variants, 14 systematically evaluated); b 9 had allele testing, 4 with potentially significant variants but not meeting EDS criteria; c 459 had microarray analysis, 102 (22%) having copy number variants including 11 of the 76 with positive WES, 6 of the 82 had positive panel testing (S5 Table); d 2 patients had incidental variants [60]; e All 82 patient results were qualified with diagnostic utility for DD (developmental disability) since that was the indication for testing;*significantly different (p <0.05) from EDS (see Methods); LkPath, likely pathogenic; Path, pathogenic; WES, whole exome sequencing. The Fig 1 protocol qualified the variants or variant combinations in all but 2 EDS patients with incidental findings as having utility for that diagnosis (column 1 of Table 2, one of the latter (patient 567 in TableS3) possibly relevant with 15q13 microdeletion that encompassed the CHRNA (M100690) cholinergic receptor gene (M100690).…”

Humangenetische Aspekte in Orthopädie und Unfallchirurgie

“…durch einschlägige Weiterbildung zur "fachgebundenen genetischen Beratung" befugte Ärzte klinischer Fächer durchgeführt werden [8]. Hochsensibel und mitunter konfliktträchtig ist die den familiären Erkrankungen wesenseigene Notwendigkeit, blutsverwandte Angehörige über eine mögliche Gefährdung in Kenntnis zu setzen, so etwa hinsichtlich drohender Gefäßrupturen beim vaskulären Ehlers-Danlos-Syndrom [9]. Die innerfamiliäre Risikokommunikation, auch über eventuelle persönliche Konflikte hinweg, obliegt zwar den Ratsuchenden selbst, aber der ärztliche Hinweis darauf muss unbedingt schriftlich festgehalten sein, am sicherstenund als Usus unter Humangenetikernin einem Ihnen als Brief zugesandten, in Kopie in der Patientenakte hinterlegten Gesprächs-bzw.…”