Management of shoulder instability in hypermobility-type Ehlers-Danlos syndrome
2021; Elsevier BV; Volume: 1; Issue: 3 Linguagem: Inglês
10.1016/j.xrrt.2021.03.002
ISSN2666-6391
AutoresSamuel E. Broida, Aidan P. Sweeney, Michael B. Gottschalk, Eric R. Wagner,
Tópico(s)Shoulder and Clavicle Injuries
ResumoShoulder instability in hypermobile Ehlers-Danlos syndrome can result in lifelong pain and functional disability. Treatment in this population is complicated by the severe degree of instability as well as the underlying abnormalities of the joint connective tissue. Appropriate care for these patients requires a thorough understanding of the natural history of their disease, knowledge of the available treatment options, and certain special considerations. This article reviews the pathoanatomy, recognition, and management of shoulder instability in the patient with hypermobile Ehlers-Danlos syndrome. Shoulder instability in hypermobile Ehlers-Danlos syndrome can result in lifelong pain and functional disability. Treatment in this population is complicated by the severe degree of instability as well as the underlying abnormalities of the joint connective tissue. Appropriate care for these patients requires a thorough understanding of the natural history of their disease, knowledge of the available treatment options, and certain special considerations. This article reviews the pathoanatomy, recognition, and management of shoulder instability in the patient with hypermobile Ehlers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders that result from underlying defects in collagen formation. While the true prevalence of EDS is unclear, estimates vary from a rate of 1 in 500 to 1 in 20,000 people.14Cecil R. Goldman L. Bennett J. Cecil textbook of medicine. W.B. Saunders, 2000Google Scholar,19Demmler J.C. Atkinson M.D. Reinhold E.J. Choy E. Lyons R.A. Brophy S.T. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison.BMJ Open. 2019; 9: e031365https://doi.org/10.1136/bmjopen-2019-031365Crossref PubMed Scopus (41) Google Scholar,73Royce P. Steinmann B. The Ehlers-Danlos Syndrome.in: Connective tissue and its heritable disorders. Wiley-Liss, 1993: 351-407Google Scholar Clinical features of EDS vary broadly across the 13 recognized subtypes, making timely diagnosis difficult for nonspecialists (Table I).12Callewaert B. Malfait F. Loeys B. De Paepe A. Ehlers-Danlos syndromes and Marfan Syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005Crossref PubMed Scopus (172) Google Scholar,52Malfait F. Francomano C. Byers P. Belmont J. Berglund B. Black J. et al.The 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 8-26https://doi.org/10.1002/ajmg.c.31552Crossref PubMed Scopus (595) Google Scholar Common phenotypic hallmarks include hypermobile joints, hyperextensible skin, and fragile connective tissue.12Callewaert B. Malfait F. Loeys B. De Paepe A. Ehlers-Danlos syndromes and Marfan Syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005Crossref PubMed Scopus (172) Google Scholar,52Malfait F. Francomano C. Byers P. Belmont J. Berglund B. Black J. et al.The 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 8-26https://doi.org/10.1002/ajmg.c.31552Crossref PubMed Scopus (595) Google Scholar These features often manifest as musculoskeletal complaints such as pain and joint instability. Joint instability is commonly seen in the classical and hypermobile EDS types, which account for 90% of total cases.81Steinmann B. Royce P.M. Superti-Furga A. The Ehlers-Danlos Syndrome.in: Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects. Wiley-Liss, New York1993: 351-407Google Scholar A multidisciplinary approach to the patient with EDS is critical, including physiatrists, physiotherapists, occupational therapists, and orthopedic surgeons.23Ericson Jr., W.B. Wolman R. Orthopaedic management of the Ehlers-Danlos Syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 188-194https://doi.org/10.1002/ajmg.c.31551Crossref PubMed Scopus (25) Google Scholar For these specialists and patients, recurrent joint instability is perhaps the most challenging musculoskeletal feature of EDS, given that the resultant pain and loss of function can be both debilitating and refractory to most standard therapies.Table IClinical manifestations of the thirteen Ehlers-Danlos syndrome clinical subtypes.EDS subtypeAbbreviationMajor and minor clinical featuresClassical (AD)cEDSMajor: Hyperextensile skin, atrophic scarring, joint hypermobilityMinor: Easy bruising, molluscoid pseudotumors, recurrent herniasClassical-like (AR)clEDSMajor: Hyperextensile skin, easy bruising, joint hypermobilityMinor: Foot deformities, hand/finger deformities, axonal polyneuropathyHypermobile (AD)hEDSMajor: Generalized joint hypermobilityMinor: Mild skin hyperextensibility, soft/velvety skin, mild atrophic scarringVascular (AD)vEDSMajor: Excessive bruising, arterial fragilitiy/rupture, characteristic faciesMinor: Arteriovenus fistula formation, spontaneous pneumothorax, acrogeriaCardiac-valvular (AR)cvEDSMajor: Severe valvular disease, hyperextensile skin, joint hypermobilityMinor: Foot deformities, pectus deformity, herniaArthrochalasis (AD)aEDSMajor: Hyperextensile skin, atrophic scarring, joint hypermobilityMinor: Easy bruising, muscular hypotonia, kyphoscoliosisDermatosparaxis (AR)dEDSMajor: Severe skin fragility, redundant skin, characteristic faciesMinor: Growth deficiency, delayed gross motor development, palmar wrinklingKyphoscoliotic (AR)kEDSMajor: Congenital hypotonia, early onset kyphoscholiosis, hypermobilityMinor: Hyperextensile skin, easy bruising, marfanoid habitus, blue scleraeBrittle cornea syndrome (AR)BCSMajor: Thin cornea, early onset keratoconus & keratoglobus, blue scleraeMinor: Retinal detachment, deafness, scoliosis, DDH, arachnodactylySpondylodysplastic (AR)spEDSMajor: Short stature, muscle hypotonia, limb bowingMinor: Hyperextensile skin, delayed psychomotor development, osteopeniaMusculocontractural (AR)mcEDSMajor: Congenital contractures, characteristic facies, hyperextensile skinMinor: Axial and limb deformities, GI and GU abnormalities, ocular diseaseMyopathic (AD or AR)mEDSMajor: Congenital hypotonia/atrophy, proximal joint contractures, hypermobilityMinor: Atrophic scarring, delayed gross motor development, myopathyPeriodontal (AD)pEDSMajor: Severe periodontitis, absent gingiva, pretibial plaquesMinor: Easy bruising, hypermobility, hyperextensile skin, marfanoid faciesAD, autosomal dominant; AR, autosomal recessive. Open table in a new tab AD, autosomal dominant; AR, autosomal recessive. Joint dislocations occur in around 75% of all patients with EDS.80Stanitski D.F. Nadjarian R. Stanitski C.L. Bawle E. Tsipouras P. Orthopaedic manifestations of Ehlers-Danlos Syndrome.Clin Orthopaedic Relat Res. 2000; 376: 213-221Crossref PubMed Scopus (70) Google Scholar Instability may be seen in most clinical EDS subtypes (classic, classic-like, hypermobile, cardiac valvular, EDS/osteogenesis imperfecta overlap syndrome, arthrochalasia), though patients with hypermobile-type EDS (hEDS) are particularly prone. More than 95% of people with hEDS report joint dislocations, and the majority opt for surgical treatment at some point in their lifetime.12Callewaert B. Malfait F. Loeys B. De Paepe A. Ehlers-Danlos syndromes and Marfan Syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005Crossref PubMed Scopus (172) Google Scholar,83Tinkle B. Castori M. Berglund B. Cohen H. Grahame R. Kazkaz H. et al.Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.Am J Med Genet C Semin Med Genet. 2017; 175: 48-69https://doi.org/10.1002/ajmg.c.31538Crossref PubMed Scopus (156) Google Scholar While instability of almost every joint has been described, the shoulder appears to be among the most commonly affected joints.12Callewaert B. Malfait F. Loeys B. De Paepe A. Ehlers-Danlos syndromes and Marfan Syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005Crossref PubMed Scopus (172) Google Scholar,70Rombaut L. Malfait F. Cools A. De Paepe A. Calders P. Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type.Disabil Rehabil. 2010; 32: 1339-1345https://doi.org/10.3109/09638280903514739Crossref PubMed Scopus (134) Google Scholar This is owing to the lack of bony stability within the glenohumeral joint and instead a reliance on dynamic and static soft tissue stabilizers. In EDS, the static soft tissue stabilizers are deficient, and the dynamic stabilizers and intrinsic bony stability are insufficient to prevent subluxations and dislocations. In this article, we will review the recognition and management of shoulder instability in the patient with hEDS. The diagnosis of hEDS must be made clinically as there are currently no conclusive genetic markers for this subtype.26Forghani I. Updates in clinical and genetics aspects of hypermobile Ehlers Danlos Syndrome.Balkan Med J. 2019; 36: 12-16https://doi.org/10.4274/balkanmedj.2018.1113Crossref PubMed Scopus (12) Google Scholar As per the 2017 International Classification of Ehlers-Danlos Syndromes,52Malfait F. Francomano C. Byers P. Belmont J. Berglund B. Black J. et al.The 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 8-26https://doi.org/10.1002/ajmg.c.31552Crossref PubMed Scopus (595) Google Scholar three clinical criteria must be fulfilled to establish the diagnosis of hEDS (Table II). The first criterion is generalized joint hypermobility based on the Beighton scoring system with appropriate age- and sex-adjusted cutoffs (Table III).6Beighton P. Solomon L. Soskolne C. Articular mobility in an African population.Ann Rheum Dis. 1973; 32: 413-418Crossref PubMed Scopus (1096) Google Scholar The second criterion is fulfillment of at least two of the following: positive family history for hEDS, pain and secondary musculoskeletal complications of joint laxity, and systemic manifestations associated with heritable connective tissue disease.52Malfait F. Francomano C. Byers P. Belmont J. Berglund B. Black J. et al.The 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 8-26https://doi.org/10.1002/ajmg.c.31552Crossref PubMed Scopus (595) Google Scholar The final criterion is an exclusion of other possible spontaneous and genetic causes of joint hypermobility.Table IIRequisite criteria for diagnosis of hEDS.1. Generalized joint hypermobilitya.Prepubertal and adolescent: Beighton ≥ 6b.Pubertal men and women of age 50 yr and younger: Beighton ≥ 5c.Men and women older than 50 yr: Beighton ≥ 42. At least two of the following features:a.Systemic manifestations of a generalized connective tissue diseaseb.Positive family history with 1+ first-degree relatives meeting criteria for hEDSc.One or more of the following musculoskeletal complications:i.Daily musculoskeletal pain in ≥2 limbs for at least 3 moii.Chronic, widespread pain for at least 3 moiii.Recurrent atraumatic joint dislocations or frank joint instability, defined by 3+ atraumatic dislocations in a single joint or 2+ atraumatic dislocations in different joints at different times3. All of the following features:a.Absence of unusual skin fragilityb.Exclusion of other hertiable and acquired connective tissue disordersc.Exclusion of alternative diagnoses that may also include hypermobile jointshEDS, hypermobile-type Ehlers-Danlos syndrome. Open table in a new tab Table IIIBeighton laxity score.FeaturePoints1. Passive dorsiflexion of 5th finger beyond 90º0: unable, 1: unilateral, 2: bilateral2. Passive apposition of thumb to flexor aspects of the forearm0: unable, 1: unilateral, 2: bilateral3. Hyperextension of the elbows beyond 10º0: unable, 1: unilateral, 2: bilateral4. Hyperextension of the knees beyond 10º0: unable, 1: unilateral, 2: bilateral5. Ability to easily rest palms on the floor with forward flexion of the trunk, knees straight, and feet together0: unable, 1: able Open table in a new tab hEDS, hypermobile-type Ehlers-Danlos syndrome. To understand pathophysiologic shoulder instability in hEDS, it is important to first appreciate the stabilization mechanisms of the healthy shoulder. In the normal shoulder, glenohumeral joint stability is dependent on adequate glenoid bone stock as well as static and dynamic stabilizers. The static stabilizers include the superior glenohumeral ligament; middle glenohumeral ligament; the anterior, posterior, and superior bands of the inferior glenohumeral ligament; the joint capsule; and the rotator interval, which contains the coracohumeral ligaments. The dynamic stabilizers of the shoulder include the four rotator cuff muscles and long head of the biceps, as well as the deltoid and periscapular muscles, to a lesser extent. The joint capsule is normally relatively loose and redundant to permit a wide range of multidirectional (>270°) motion. However, the patient with hEDS will have an especially capacious and expanded capsule with very little static stability (Fig. 1).60Pagnani M. Warren R. Stabilizers of the glenohumeral joint.J Shoulder Elbow Surg. 1994; 3: 173-190Abstract Full Text PDF PubMed Scopus (111) Google Scholar,74Saccomanno M. Fodale M. Capasso L. Cazzato G. Milano G. Generalized joint laxity and multidirectional instability of the shoulder.Joints. 2014; 1: 171-179https://doi.org/10.11138/jts/2013.1.4.171Crossref PubMed Scopus (21) Google Scholar This capsular and ligamentous laxity can often lead to low-energy subluxations or dislocations. Thus, a patient presenting with low-energy dislocation events—or even the ability to self-subluxate—should raise suspicion for hEDS, especially if accompanied by complaints of other unstable extremity or axial joints, skin hyperextensibility, atrophic scarring, or chronic joint pain.12Callewaert B. Malfait F. Loeys B. De Paepe A. Ehlers-Danlos syndromes and Marfan Syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005Crossref PubMed Scopus (172) Google Scholar Chronic and recurrent subluxation can result in asymmetric loading of the joint. The hypermobile joint in EDS becomes painful often well before any visible changes can be detected on plain radiographs. Patients may also present with distal upper extremity neuropathic pain owing to traction or compression of the peripheral nerves.23Ericson Jr., W.B. Wolman R. Orthopaedic management of the Ehlers-Danlos Syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 188-194https://doi.org/10.1002/ajmg.c.31551Crossref PubMed Scopus (25) Google Scholar Poor muscle tone and impaired proprioception throughout development can contribute to immature postural reactions, and thus, people with hEDS may demonstrate signs of postural instability.16Clayton H.A. Jones S.A. Henriques D.Y. Proprioceptive precision is impaired in Ehlers-Danlos Syndrome.Springerplus. 2015; 4: 323https://doi.org/10.1186/s40064-015-1089-1Crossref PubMed Scopus (17) Google Scholar,22Dupuy E.G. Leconte P. Vlamynck E. Sultan A. Chesneau C. Denise P. et al.Ehlers-Danlos Syndrome, hypermobility type: impact of somatosensory orthoses on postural control (a pilot study).Front Hum Neurosci. 2017; 11: 283https://doi.org/10.3389/fnhum.2017.00283Crossref PubMed Scopus (10) Google Scholar,30Galli M. Rigoldi C. Celletti C. Mainardi L. Tenore N. Albertini G. et al.Postural analysis in time and frequency domains in patients with Ehlers-Danlos Syndrome.Res Dev Disabil. 2011; 32: 322-325https://doi.org/10.1016/j.ridd.2010.10.009Crossref PubMed Scopus (37) Google Scholar,69Rombaut L. De Paepe A. Malfait F. Cools A. Calders P. Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).Clin Rheumatol. 2010; 29: 289-295https://doi.org/10.1007/s10067-009-1320-yCrossref PubMed Scopus (52) Google Scholar Many patients with hEDS will develop scapular dyskinesia, either as a compensatory mechanism for the recurrent subluxations/dislocations or contributing to them. Furthermore, patients occasionally have voluntary or involuntary muscle contractions affecting their recurrent instability sensations. For example, latissimus dorsi contractions are associated with recurrent posterior and inferior humeral head subluxation. Years of pain avoidance is often the driving force underlying many of these altered mechanics. Castori et al13Castori M. Camerota F. Celletti C. Danese C. Santilli V. Saraceni V.M. et al.Natural history and manifestations of the hypermobility type Ehlers-Danlos Syndrome: a pilot study on 21 patients.Am J Med Genet A. 2010; 152A: 556-564https://doi.org/10.1002/ajmg.a.33231Crossref PubMed Scopus (122) Google Scholar described three distinct phases in the natural history of hEDS. The first phase, labeled the “hypermobility” phase, is characterized by marked ligamentous laxity and may begin shortly after birth. If present, clinical signs of hEDS in the newborn are typically limited to the hip joint as unilateral or bilateral congenital dislocations. Shoulder hypermobility may present as early as childhood with reports in children as young as 5 years of age.58Nourissat G. Vigan M. Hamonet C. Doursounian L. Deranlot J. Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation.J Shoulder Elbow Surg. 2018; 27: 65-69https://doi.org/10.1016/j.jse.2017.05.028Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar This therefore poses a diagnostic challenge at young ages, as children are inherently more flexible than adults.12Callewaert B. Malfait F. Loeys B. De Paepe A. Ehlers-Danlos syndromes and Marfan Syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005Crossref PubMed Scopus (172) Google Scholar,83Tinkle B. Castori M. Berglund B. Cohen H. Grahame R. Kazkaz H. et al.Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.Am J Med Genet C Semin Med Genet. 2017; 175: 48-69https://doi.org/10.1002/ajmg.c.31538Crossref PubMed Scopus (156) Google Scholar Although distinction between a normal flexible child and one with mild hEDS can be difficult to discern, those with more severe disease can contort and bend into unusual positions through voluntary joint subluxations. Subsequently, children with hEDS have a predilection for sports requiring flexibility, such as ballet and gymnastics, and are able to participate without much functional disability. The most common clinical complaint during this first phase is joint instability and recurrent dislocations, especially of the patella. The second phase is the “pain” phase. This phase typically starts during the second to fourth decades of life. Progressive and generalized musculoskeletal pain begins to hinder the patient with hEDS. Typically, there is a slight decrease in joint hypermobility compared with the first phase, with Beighton scores6Beighton P. Solomon L. Soskolne C. Articular mobility in an African population.Ann Rheum Dis. 1973; 32: 413-418Crossref PubMed Scopus (1096) Google Scholar still remaining >4. Muscle, joint, and back pain are accompanied by worsening fatigue and may be mislabeled as fibromyalgia or psychosomatic symptoms. Combined with joint instability, these complaints cause progressive limitation in physical activity and activities of daily living. Compensation for unstable and painful joints may contribute to muscular atrophy, deconditioning, and alterations in joint mechanics which further exacerbate chronic pain. For example, in the shoulder, patients will often develop either scapular winging or dyskinesia as a compensatory mechanism for glenohumeral instability. Furthermore, they might develop voluntary or involuntary muscle contractions that contribute to the instability episodes, such as latissimus dorsi contractions associated with recurrent posterior and inferior instability. Transition to the third and final phase, the “stiffness” phase, may occur in late adulthood. Considerable generalized joint hypermobility yields to joints that are slightly stiffer yet still prone to dislocation, with a gradual lowering of the Beighton score. This is likely due to decades of overuse and hypertonia of the dynamic joint stabilization muscles as they compensate for soft-tissue laxity. As these patients age and the shoulders stiffen, they are still prone to dislocation. However, their dislocations become more worrisome owing to associated risk of rotator cuff injuries and fractures secondary to stiffness. These patients continue to be plagued by pain as scapulothoracic dyskinesia worsens and becomes more symptomatic. Physical deformities such as kyphoscoliosis may also worsen. The patient with hEDS in this phase of illness is often significantly disabled secondary to pain, fatigue, limited range of motion (ROM), a lifelong history of injury, and reduced muscle mass.13Castori M. Camerota F. Celletti C. Danese C. Santilli V. Saraceni V.M. et al.Natural history and manifestations of the hypermobility type Ehlers-Danlos Syndrome: a pilot study on 21 patients.Am J Med Genet A. 2010; 152A: 556-564https://doi.org/10.1002/ajmg.a.33231Crossref PubMed Scopus (122) Google Scholar,83Tinkle B. Castori M. Berglund B. Cohen H. Grahame R. Kazkaz H. et al.Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.Am J Med Genet C Semin Med Genet. 2017; 175: 48-69https://doi.org/10.1002/ajmg.c.31538Crossref PubMed Scopus (156) Google Scholar Inspection of the shoulder at rest and with active range of motion is key in the evaluation of hEDS. Signs of compensation for chronic instability include scapular dyskinesia associated with a protracted scapular resting state and voluntary or involuntary muscle contractions, as well as glenohumeral subluxations with any attempted active motion. Particular attention should be paid to the scapulothoracic kinetics, as patients may have dyskinesia from poor mechanics or scapular winging from hyperlaxity or nerve injuries.78Skedros J.G. Phippen C.M. Langston T.D. Mears C.S. Trujillo A.L. Miska R.M. Complex scapular winging following total shoulder arthroplasty in a patient with Ehlers-Danlos Syndrome.Case Rep Orthop. 2015; 2015: 680252https://doi.org/10.1155/2015/680252Crossref PubMed Google Scholar Years of pain avoidance and altered mechanics can cause a significant reduction of muscle mass, including visible atrophy of various muscles around the scapulohumeral shoulder girdle. Instability of the shoulder in hEDS is usually multidirectional. On physical examination, there is increased translation of the humeral head beyond the glenoid rim in ≥2 directions with the arm resting in adduction at the side, termed multidirectional instability (MDI). The sulcus sign is also important to recognize, with inferior translation of the humeral head associated with a visible “sulcus” under the acromion (Fig. 2). Passive shoulder range of motion is often difficult to assess owing to apprehension and ease of dislocation. Active ROM of the shoulder may be above average or restricted by pain.3Aldridge 3rd, J.M. Perry J.J. Osbahr D.C. Speer K.P. Thermal capsulorraphy of bilateral glenohumeral joints in a pediatric patient with Ehlers-Danlos Syndrome.Arthroscopy. 2003; 19: E41https://doi.org/10.1053/jars.2003.50161Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar,45Kitagawa T. Matsui N. Nakaizumi D. Structured rehabilitation program for multidirectional shoulder instability in a patient with Ehlers-Danlos Syndrome.Case Rep Orthop. 2020; 2020: 8507929https://doi.org/10.1155/2020/8507929Crossref PubMed Google Scholar,78Skedros J.G. Phippen C.M. Langston T.D. Mears C.S. Trujillo A.L. Miska R.M. Complex scapular winging following total shoulder arthroplasty in a patient with Ehlers-Danlos Syndrome.Case Rep Orthop. 2015; 2015: 680252https://doi.org/10.1155/2015/680252Crossref PubMed Google Scholar Patients also may demonstrate signs of joint subluxation during active elevation or abduction. Many times, altered scapulohumeral rhythm can manifest with scapular dyskinesia during shoulder elevation movements. Although nearly all patients with hEDS endorse a history of joint laxity, only two-thirds of patients may demonstrate shoulder hypermobility at the time of physical examination.13Castori M. Camerota F. Celletti C. Danese C. Santilli V. Saraceni V.M. et al.Natural history and manifestations of the hypermobility type Ehlers-Danlos Syndrome: a pilot study on 21 patients.Am J Med Genet A. 2010; 152A: 556-564https://doi.org/10.1002/ajmg.a.33231Crossref PubMed Scopus (122) Google Scholar This is likely owing to delays in diagnosis and progressive articular stiffness that can develop from recurrent shoulder dislocations. If hEDS is suspected, it is important to evaluate for hypermobility in other joints in addition the shoulder. Mean Beighton score for hEDS has been reported to be around 5.9 (compared with <2 in healthy populations) but is often greater than 7, 8, or 9 in adolescence and early adulthood.6Beighton P. Solomon L. Soskolne C. Articular mobility in an African population.Ann Rheum Dis. 1973; 32: 413-418Crossref PubMed Scopus (1096) Google Scholar,79Spanhove V. De Wandele I. Kjaer B.H. Malfait F. Vanderstukken F. Cools A. The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study.Physiotherapy. 2020; 107: 11-18https://doi.org/10.1016/j.physio.2019.06.010Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar Similar to ROM, strength testing is frequently limited by apprehension and significant instability. However, these patients often have poor rotator cuff tone and generalized shoulder weakness. This weakness is often most pronounced with shoulder abduction owing to deltoid atrophy. Certain scapular dyskinetic patterns will also alter the patients overall strength. Anterior provocative maneuvers are often positive, including the load-and-shift test, apprehension test (abduction and external rotation), and relocation test.84Tzannes A.M. Murrell G.A.C. Clinical examination of the unstable shoulder.Sports Med. 2002; 37: 447-457https://doi.org/10.2165/00007256-200232070-00004Crossref Scopus (62) Google Scholar The posterior provocative maneuvers are also positive, including the posterior load-and-shift test and the Kims test.24Eshoj H. Ingwersen K.G. Larsen C.M. Kjaer B.H. Juul-Kristensen B. Intertester reliability of clinical shoulder instability and laxity tests in subjects with and without self-reported shoulder problems.BMJ Open. 2018; 8: e018472https://doi.org/10.1136/bmjopen-2017-018472Crossref PubMed Scopus (11) Google Scholar,44Kim S.H. Park J.S. Jeong W.K. Shin S.K. The Kim test: a novel test for posteroinferior labral lesion of the shoulder–a comparison to the jerk test.Am J Sports Med. 2005; 33: 1188-1192https://doi.org/10.1177/0363546504272687Crossref PubMed Scopus (133) Google Scholar Although many of these maneuvers assess laxity of the glenohumeral joint, true instability may only be diagnosed if apprehension and discomfort are also present with testing.35Guerrero P. Busconi B. Deangelis N. Powers G. Congenital instability of the shoulder joint: assessment and treatment options.J Orthop Sports Phys Ther. 2009; 39: 124-134https://doi.org/10.2519/jospt.2009.2860Crossref PubMed Scopus (22) Google Scholar By the time of presentation, biplanar or triplanar instability in the patient with hEDS is often present in the midranges of shoulder motion rather than solely at the extremes.3Aldridge 3rd, J.M. Perry J.J. Osbahr D.C. Speer K.P. Thermal capsulorraphy of bilateral glenohumeral joints in a pediatric patient with Ehlers-Danlos Syndrome.Arthroscopy. 2003; 19: E41https://doi.org/10.1053/jars.2003.50161Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar Imaging findings are variable in the patient with hEDS and depend on age at presentation and progression of symptoms. Static radiographs may show varying degrees of inferior humeral head subluxation relative to the severity of capsular laxity (Fig. 3). Given that instability in this population is owing to insufficiency of static stabilizers (eg, capsular insufficiency) rather than bony anatomy, static imaging with radiographs and computed tomography often do not demonstrate the underlying etiology for the instability. However, some patients with hEDS have glenoid dysplasia, best appreciated on Grashey views as a hypoplastic glenoid neck and on axillary views with glenoid retroversion. In these cases, a computed tomography scan of the shoulder can be useful for measuring glenoid version, medialization of the joint line, or recognizing other bony deficiencies. A longstanding history of subluxation and dislocation may eventually give way to glenohumeral erosion later in adulthood, but younger patients have loose, painful shoulder joints without changes in their labrum or bony anatomy.23Ericson Jr., W.B. Wolman R. Orthopaedic management of the Ehlers-Danlos Syndromes.Am J Med Genet C Semin Med Genet. 2017; 175: 188-194https://doi.org/10.1002/ajmg.c.31551Crossref PubMed Scopus (25) Google Scholar,35Guerrero P. Busconi B. Deangelis N. Power
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