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Examination and treatment of a patient with hypermobility syndrome.

BACKGROUND AND PURPOSE: The purpose of this case report is to present the patient examination, evaluation/diagnosis/prognosis, intervention, and outcome of a patient with hypermobility syndrome (HMS). Hypermobility syndrome has been widely recognized in the rheumatology literature, but it has seldom been discussed in the orthopedic literature and has only recently been described in the physical therapy literature. The signs and symptoms of HMS are common among patients seen in orthopedic physical therapy clinics; however, the underlying HMS may be overlooked while treating individual joints or tissues causing pain. CSE DESCRIPTION: The patient was a 28-year-old woman with complaints of chronic, multiple-joint pain. After years without a diagnosis, a rheumatologist had recently diagnosed underlying HMS. OUTCOMES: Following intervention that emphasized patient education and activity modification, the patient's complaints decreased. DISCUSSION: Recognition of HMS underlying common orthopedic problems may facilitate appropriate patient education and management.

Adult↗

Impaired proprioceptive acuity at the proximal interphalangeal joint in patients with the hypermobility syndrome.

Twelve patients with the hypermobility syndrome (> or = 4 on the Beighton score) were examined to establish whether they showed any impairment of proprioception. A position matching paradigm was used which required subjects to align a finger silhouette with the kinaesthetically perceived position of their hidden index finger. Position sense at the PIP joint was found to be significantly (P < 0.0001) impaired in hypermobile patients who made larger matching errors at all angles compared to age- and sex-matched controls. The patients also demonstrated biasing in the direction of errors made when the PIP joint was positioned +/- 20 degrees away from the mid-position. These patients perceived the PIP joint to be less displaced towards the extremes of the range of movement than it really was. The mechanism underlying this impairment of proprioception remains speculative and it is not clear whether this disturbance is a cause or an effect of the hypermobility syndrome.

Adult↗

Pro-inflammatory interleukins in the synovial fluid of rheumatoid arthritis associated with joint hypermobility.

BACKGROUND: Joint hypermobility (JH) is frequently seen in rheumatology; in some cases, such as rheumatoid arthritis (RA), it may represent a worsening of disease evolution. The aim of our study was to evaluate the influence of joint hypermobility on RA synovial fluid (SF) inflammation. Patients and methods. One hundred consecutive adult patients with RA and joint effusion of the knee were examined for the presence of JH. In the SF we evaluated volume, the number of white blood cells (WBC) and the levels of interleukin (IL)-1beta, IL-6 and IL-8 and prostaglandin E2 (PGE2). RESULTS: JH was associated with RA (JH-RA) in 18 patients, all of whom were female. Compared with non-JH RA, all the SF indices found in JH-RA were higher, although significant differences were observed only for volume, IL-8 and PGE2. CONCLUSION: In JH-RA, increased joint mobility seems to be associated with a more severe local inflammatory response, which may contribute to the more erosive evolution observed in our patients.

Adult↗

Experimentally induced hypermobility in the lumbar spine. A pathologic and radiologic study of the posterior ligament and annulus fibrosus.

Experimental destructive lesions were produced at autopsy in the lumbar discs of nine spines including 29 radiologically normal adult lumbar intervertebral discs. Limited transverse surgical division of the posterior longitudinal ligament and adjacent annular fibers were performed followed by, in addition, the removal of the intervertebral nucleus pulposus. Without interfering with any other major structure, radiologic evidence of hypermobility was recorded in 20 of 29 normal intervertebral segments. The patterns of movement were measured by standardized radiologic criteria. The available evidence suggests that localized damage to the region of the posterior longitudinal ligament and adjacent annulus fibrosus can produce radiologic patterns of hypermobility.

Adolescent↗

Unstable lumbar spine without hypermobility in postlaminectomy cases. Mechanism of symptoms and effect of spinal fusion with and without spinal instrumentation.

The morbid conditions of unstable lumbar spine that are not associated with hypermobility in postlaminectomy cases were studied. The dura and the nerve roots with adhesion could be affected by minimal movement of the spine, which seemed to be the mechanism of symptoms of instability without hypermobility. The effects of spinal instrumentation on this particular instability were studied. The spinal instrumentation provides instantaneous rigid fixation, and maintains it until fusion is obtained, which might prevent adhesion, new bone formation, and re-stenosis. Spinal instrumentation seemed to be the effective treatment for this particular instability.

Aged↗

Lower urinary tract dysfunction in children with generalized hypermobility of joints.

PURPOSE: We assessed the relationship between general joint hypermobility (GJH) and lower urinary tract symptoms presenting as nonneurogenic bladder sphincter dysfunction in children. MATERIALS AND METHODS: Parents of 89 children 5 to 12 years old who were diagnosed with GJH according to the Beighton and Bulbena scales were asked to fill out a questionnaire concerning symptoms of nonneurogenic bladder sphincter dysfunction, namely daytime urinary incontinence, nighttime urinary incontinence, urinary tract infection, constipation and fecal soiling. The control group comprised 116 healthy schoolchildren 5 to 12 years old. RESULTS: Constipation was reported in 19% of boys with GJH and 4% of male controls (p = 0.02). Fecal soiling occurred more often in the GJH group than in the control group (34% versus 18%, p = 0.07). In girls daytime and nighttime urinary incontinence was more prevalent in the GJH group (38% and 14%, respectively) than in controls (13% and 2%, respectively, p = 0.004 and p = 0.02, respectively). Of girls with GJH 24% had a history of urinary tract infections compared with 11% of the control group (p = 0.08). CONCLUSIONS In children with generalized hypermobility of joints symptoms of nonneurogenic bladder sphincter dysfunction are more prevalent. In boys this condition manifests as constipation and possibly fecal soiling, and in girls as urinary incontinence and possibly urinary tract infections.

Child↗

Clinical, morphological and biochemical features in the familial articular hypermobility syndrome (FAHS): a family study.

A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collagen and glycosaminoglycans (GAGs) contents from skin biopsies of the subject and her family were almost normal. Nevertheless, the densitometric analysis of electrophoretic patterns showed differences in the relative proportions of their collagenous components. They were characterized by changes in type I and III collagens and the presence of type V collagen, in the subject, her father and brother. Also, they presented changes in the types of GAGs, when compared with those of normal skin. Morphological studies revealed a general disorganization of dermal components, a loose collagen network characterized by thick bundles. Also, besides cellular elements, the presence of an abundant darkly staining material was observed. Biochemical and morphological findings permit us to suggest a connective tissue defect, initially described in the FAHS, otherwise known as Ehlers Danlos syndrome (EDS) type XI.

Adult↗

Joint hypermobility in keratoconus.

There are several reports linking keratoconus and connective tissue disorders, such as Ehlers-Danlos syndrome, osteogenesis imperfecta and mitral valve prolapse, suggesting that keratoconus may be the result of a localized dysfunction in collagen metabolism. In view of this the incidence of hypermobility of the joints among a group of patients with keratoconus was compared with a normal (matched) control group. Eighty-four patients were examined using the Beighton modification of the Carter and Wilkinson scoring system. A control group matched for sex, age and ethnic group was also assessed. No statistically significant difference between the groups was found for the trunk or knees; a difference was found for the metacarpo-phalyngeal and wrist joints. The findings support the theory that keratoconus is a localized manifestation of a mild connective tissue disorder. Also, it can be stated that patients with keratoconus are five times more likely to show hypermobility of the metacarpo-phalyngeal and wrist joints.

Adult↗

Osseous repair in the presence of active tooth hypermobility.

The present investigation was undertaken to evaluate the periodontal response after resolution of inflammation in a situation of established marginal periodontitis, but in the presence of active, continued tooth hypermobility. Periodontitis was induced unilaterally around mandibular second and third bicuspids in 4 squirrel monkeys by tying plaque retentive silk ligatures at the gingival margins. Jiggling trauma to the periodontium between these bicuspids was begun 5 weeks later and continued for the remaining 20 weeks. Ligatures were removed 15 weeks after placement, whereupon regular oral hygiene was begun and continued. Periodontitis and trauma were produced around the corresponding contralateral teeth (control) so that the interproximal area represented the situation immediately prior to ligature removal. Infiltrated connective tissue, loss of connective tissue attachment and alveolar bone, and percentage of bone were determined histometrically for each coronal interproximal periodontium. In control specimens, 58% of the supracrestal tissue was infiltrated with inflammatory cells compared to 19% in experimental specimens. There were no differences in levels of connective tissue attachment or crestal alveolar bone. However, bone repair occurred in the experimental specimens which increased bone volume from 11 to 18% (P less than 0.05). It was concluded that osseous repair occurred in the presence of active, continued tooth hypermobility after resolution of inflammation.

Alveolar Process↗

Background factors in craniomandibular disorders: reported symptoms in adolescents with special reference to joint hypermobility and oral parafunctions.

Correlations between craniomandibular disorders (CMD) symptoms and an inherited factor (general joint hypermobility) were studied in 193 adolescents (96 girls and 97 boys). They answered a questionnaire concerning CMD symptoms, oral parafunctions, head and jaw trauma and symptoms from other joints. Joint mobility was assessed by determining the Beighton score (0-9). Twenty-eight percent of the girls and 21% of the boys could perform four or more of the manoeuvres. Twenty-two percent of the girls and 3% of the boys were extremely hypermobile (score greater than or equal to 5). Eighty-nine percent were aware of some oral parafunction and the prevalences of oral habits were about the same in the two groups. Girls reported significantly more dysfunction symptoms than boys. No indication was found that oral parafunctions generally produced CMD but a systemic factor (joint hypermobility) seemed to play an important role when the masticatory system was exposed to local forces as in oral parafunction. This may be one explanation for the predominance of females among CMD patients.

Adolescent↗

Articular hypermobility simulating chronic rheumatic disease.

A retrospective survey of 54 children with symptoms associated with articular hypermobility showed only occasional recognition of the syndrome before referral; some patients had been treated for inflammatory arthritis. Of the patients, 78% were girls; their mean age at onset of symptoms (11 years) was 3 years older than the mean age of the boys. Hypermobility was localised rather than generalised in most patients, and this may be an important reason for the apparent under recognition of the syndrome.

Adolescent↗

Joint hypermobility leading to osteoarthrosis and chondrocalcinosis.

We have reviewed 21 adults referred to rheumatology clinic and considered to have generalised joint hypermobility by the criteria of Carter and Wilkinson (1964), modified by Beighton et al. (1973). They fell into two categories. 5 patients had a raised plasma viscosity (PV) and in each case a definite pathology was found to account for this, superimposed on hypermobile joints. The remaining 16 had a normal PV and this group was thought to represent the late natural history of hypermobility. 5 of these (aged 32 to 54 years) had no evidence of osteoarthrosis but the remaining 11 (aged 34 to 80 years) had widespread radiological osteoarthrosis. Synovial histology was obtained at arthroscopy in 6 of these patients and 4 (aged 60 to 75) had chondrocalcinosis. This previously undescribed finding may be the end result of hypermobile joints. Hypermobile patients with joint deformity (lax connective tissue), widespread synovial thickening (traumatic), and hot joint effusions (chondrocalcinosis) may mimic rheumatoid arthritis. They must be distinguished from patients who develop rheumatoid arthritis in hypermobile joints.

Adult↗

A clinical and echocardiographic study of patients with the hypermobility syndrome.

Three age- and symptom-matched groups of patients with a hypermobility score of 5-9, 3-4, and 0-2 (controls), respectively, were examined for clinical and echocardiographic evidence of mitral valve prolapse and other stigmata of a collagen disorder. Mitral valve prolapse, a reduced upper segment/lower segment mitral ratio, reduced skin thickness, spinal anomalies, and a history of fracture were found to be significantly commoner among the hypermobile patients than the controls. The data suggest that the so-called hypermobility syndrome, far from being a benign locomotor disorder of healthy persons, may be a forme fruste of a hereditary disorder of connective tissue.

Adult↗

General joint hypermobility and temporomandibular joint derangement in adolescents.

Joint mobility was assessed in each member of an epidemiological sample of 96 girls and 97 boys, 17 years old, and graded by means of the hypermobility score of Beighton et al. Twenty two per cent of the girls and 3% of the boys could perform five or more of the nine manoeuvres. The prevalence of symptoms and signs of internal derangement in the temporomandibular joint was higher in adolescents with hypermobility of joints (score greater than or equal to 5/9). In subjects with a high mobility score oral parafunctions (overuse) correlated more strongly with several signs and symptoms of craniomandibular disorder than in those with a low score.

Adolescent↗

Association of systemic lupus erythematosus and hypermobility.

OBJECTIVE: To investigate joint laxity in patients with systemic lupus erythematosus (SLE). SETTING: University Hospital. METHODS: 81 patients with SLE (1999 American College of Rheumatology criteria; 72 (89%) women and nine (11%) men, mean age 42.9 (SD 16.1) years), who regularly attended a specialist SLE clinic were examined. The control group comprised 280 patients attending a general practitioner (193 (69%) women and 87 (31%) men, mean age 44.7 (SD 11.2) years). Joint laxity was measured according to the criteria of Beighton et al (total score 4 or more). A regression analysis was performed. RESULTS: Thirty nine (48%) patients with SLE and 42 (15%) of the control group were hypermobile. A logistic regression model was developed. The odds ratio of the association between laxity and SLE after adjustment for age and sex was 2.31 in the group younger than 49 years, and 17.99 in the group aged 49 years or older. Neither the clinical and analytical profile nor the use of corticosteroids was related to joint laxity. CONCLUSION: Patients with SLE showed more hypermobility than controls. Hypermobility was more profound in older patients with SLE (> or =49 years). Joint laxity was not associated with any clinical or analytical pattern. Treatment with corticosteroids was not related to joint laxity.

Adult↗

Hypermobility and injuries in a professional ballet company.

A study was conducted on members of the Cape Performing Arts Board (CAPAB) professional ballet company to determine the prevalence of hypermobility and to document the injuries sustained over a ten year period. If forward flexion, which is acquired through training, is excluded as a parameter the difference in hypermobility between dancers and controls is not statistically significant. Considering the stresses imposed on the musculoskeletal system, the number of injuries was surprisingly low. Ligamentous injuries about the ankle and knee were both common and accounted for the major morbidity. There were minor differences in the nature and severity of injuries in the male and female dancers. Back injuries, fractures and osteoarthrosis were uncommon and shin splints was not recorded in any of the dancers.

Adult↗

Marfanoid hypermobility syndrome associated with coarctation of the aorta.

There are intimate interrelations between various elements of connective tissue, viz. collagen, elastin, and glycoproteins. It is not unexpected that Marfan and Ehlers-Danlos syndromes share common features. The condition is labelled as Marfanoid hypermobility syndrome. In the patient described here, the Marfanoid hypermobility syndrome was associated with coarctation of the aorta which was corrected surgically.

Adolescent↗

Treatment of pediatric chronic pain with tramadol hydrochloride: siblings with Ehlers-Danlos syndrome - Hypermobility type.

OBJECTIVE: To evaluate the effectiveness of tramadol hydrochloride for the treatment of chronic pain refractory to previous treatment in two pediatric patients. METHODS: Tramadol hydrochloride was administered (50 mg/day to 150 mg/day) to two siblings with Ehlers-Danlos syndrome - Hypermobility type refractory to previous pharmacological treatments, and changes in pain intensity and physical activity were assessed. RESULTS: Pain intensity decreased and physical activity improved within days of starting therapy. Positive results have been maintained for 30 months. CONCLUSIONS: Tramadol hydrochloride was a safe and effective treatment for relieving chronic pain in two pediatric patients suffering from the hypermobility type of Ehlers-Danlos syndrome. No morbidity or side effects were noted during the 30-month follow-up.

Analgesics, Opioid↗