Hypermobile Disorders and Their Effects on the Hip Joint

Clapp, Ian M.; Paul, Katlynn; Beck, Edward C.; Nho, Shane J.

doi:10.3389/fsurg.2021.596971

Cited by 8 publications

(4 citation statements)

References 68 publications

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“…Again, this may be due to the inherent hypermobility and instability found in EDS patients due to their ligament laxity. 22 Previous literature has established that THA utilising interventions such as larger femoral head size, bipolar and tripolar arthroplasty, constrained acetabular liners, soft tissue reinforcement, anterior approaches and dual mobility cups can provide increased stability following THA; these may be helpful for THA with EDS patients, however, no current evidence exists confirming whether the use of such implant types or approaches have improved outcomes in EDS patients. 13,23,24 These findings can be used to guide surgeons in preparation for their THA cases with EDS patients as instability following THA can lead to early revision and failure after revision.…”

Section: Discussionmentioning

confidence: 99%

Total hip arthroplasty outcomes in Ehlers-Danlos patients: data from the Statewide Planning and Research Cooperative System

Shichman,

Rajahraman,

Anil

et al. 2024

HIP International

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Introduction: Ehlers-Danlos syndromes (EDS) are genetic connective tissue disorders affecting multiple organ systems that frequently result in connective tissue hyperlaxity and early osteoarthritis. Short- and long-term outcomes after primary total hip arthroplasty (THA) in this patient population remain poorly characterised. The primary purpose of this study is to compare postoperative outcomes and survivorship after primary THA in patients with and without EDS. Methods: The New York Statewide Planning and Research Cooperative System (SPARCS) database was queried for all patients undergoing primary elective THA between September 2009 and December 2020. Patients with EDS were identified using ICD9 and ICD10 diagnosis codes. Given the relatively low incidence of EDS in this patient population, the cohort was propensity-matched 1:10 to patients without diagnosis of EDS based on demographics characteristics and medical comorbidities as measured by the Elixhauser Comorbidity Index. Results: A total of 66 THA patients with and 660 without EDS were included in each group after 1:10 propensity-matching. There were no significant differences in baseline characteristics or THA indications. Early postoperative outcomes such as length of hospital stay and discharge disposition were similar. Emergency Room visits and inpatient readmission rates at 3 months postoperatively did not significantly differ between groups. Patients with EDS had a higher overall revision rate compared to those without (15.0% vs. 3.2%, p < 0.001). Revision free survival after primary THA in patients with EDS was significantly lower than those without EDS at 9-year follow-up. Cox proportional hazard regression demonstrated EDS patients had 7-times higher risk of revision (hazard ratio [HR] 7.43; 95% CI, 3.46–16.00; p < 0.001). Lastly, revision due to instability insignificantly trended higher in the EDS cohort (HR 2.29; 95% CI, 0.95–5.49; p = 0.063). Conclusions: EDS patients undergoing primary THA have increased rate of all cause revision and demonstrate decreased revision free survival compared to non-EDS THA patients.

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Section: Discussionmentioning

confidence: 99%

Total hip arthroplasty outcomes in Ehlers-Danlos patients: data from the Statewide Planning and Research Cooperative System

Shichman,

Rajahraman,

Anil

et al. 2024

HIP International

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“…Hypermobility and hypermobility syndromes may account for increased risk of dislocations. Such was the focus of a recent study showing ligamentous laxity may be the cause of 11.1 % of post hip arthroscopy dislocations [ 8 ], and another in which individuals with Ehlers Danlos had a periprosthetic dislocation rate of 4.2 % compared to 1.7 % of controls in the first 90 days after total hip arthroplasty [ 9 ]. However, no study to date has investigated the association of hypermobility syndromes with dislocation rates in fracture such as RO's.…”

Section: Discussionmentioning

confidence: 99%

Posterior hip fracture dislocation from a non-contact injury while playing soccer. “A Case Report”

Nowell

Coombs

Tippabhatla

et al. 2023

Trauma Case Reports

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“…Affected people are frequently short in stature and typically have fragile blood vessels/organs that easily rupture (e.g., hemoptysis and pneumothorax [collapsed lung]). Another distinctive trait of vEDS is hip dislocation [24][25][26]. Our patient was short in stature and had acetabular dysplasia in both hips.…”

Section: Discussionmentioning

confidence: 99%

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines

Kim,

Kim

et al. 2023

Ann Lab Med

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Background: Marfan syndrome (MFS) is caused by fibrillin-1 gene (FBN1) variants. Mutational hotspots and/or well-established critical functional domains of FBN1 include cysteine residues, calcium-binding consensus sequences, and amino acids related to interdomain packaging. Previous guidelines for variant interpretation do not reflect the features of genes or related diseases. Using the Clinical Genome Resource (ClinGen) FBN1 variant curation expert panel (VCEP), we re-evaluated FBN1 germline variants reported as variants of uncertain significance (VUSs).Methods: We re-evaluated 26 VUSs in FBN1 reported in 161 patients with MFS. We checked the variants in the Human Genome Mutation Database, ClinVar, and VarSome databases and assessed their allele frequencies using the gnomAD database. Patients' clinical information was reviewed.Results: Four missense variants affecting cysteines (c.460T > C, c.1006T > C, c.5330G > C, and c.8020T > C) were reclassified as likely pathogenic and were assigned PM1_strong or PM1. Two intronic variants were reclassified as benign by granting BA1 (stand-alone). Four missense variants were reclassified as likely benign. BP5 criteria were applied in cases with an alternate molecular basis for disease, one of which (c.7231G > A) was discovered alongside a pathogenic de novo COL3A1 variant (c.1988G > T, p.Gly633Val).Conclusions: Considering the high penetrance of FBN1 variants and clinical variability of MFS, the detection of pathogenic variants is important. The ClinGen FBN1 VCEP encompasses mutational hotspots and/or well-established critical functional domains and adjusts the criteria specifically for MFS; therefore, it is beneficial not only for identifying pathogenic FBN1 variants but also for distinguishing these variants from those that cause other connective tissue disorders with overlapping clinical features.

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Hypermobile Disorders and Their Effects on the Hip Joint

Cited by 8 publications

References 68 publications

Total hip arthroplasty outcomes in Ehlers-Danlos patients: data from the Statewide Planning and Research Cooperative System

Total hip arthroplasty outcomes in Ehlers-Danlos patients: data from the Statewide Planning and Research Cooperative System

Posterior hip fracture dislocation from a non-contact injury while playing soccer. “A Case Report”

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines

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