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PubMed2006

Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome.

OBJECTIVE: To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). METHODS: Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked. RESULTS: The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%). CONCLUSION: JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.

Adolescent↗

PubMed2007

Joint hypermobility.

Patients with joint hypermobility, perhaps the mildest of the various inherited abnormalities of connective tissue, may present to a rheumatologist or general practitioner although a large proportion are recognized by health professionals, particularly physiotherapists. Hypermobility may be generalized or extreme at a small number of joints. Sometimes it is associated with involvement of other organs because of abnormal inherited collagen structure elsewhere. A small proportion of patients will have one of the more serious conditions such as Ehlers-Danlos syndrome, Marfan's syndrome or osteogenesis imperfecta. Management is multidisciplinary requiring a team including physicians, physiotherapists, occupational therapists and podiatrists, among others. Patients often wait a long time before receiving their definitive diagnosis and are sometimes dismissed as malingerers. Patients often have a lot of queries about their condition unrelated to their joints. Among these are whether there will be problems in pregnancy, whether the condition will be passed on to their children, whether symptoms arising from organs other than the joints are related and whether they might have been incorrectly accused of battering their children.

Connective Tissue Diseases↗

PubMed2005

Posterior compartment prolapse on two-dimensional and three-dimensional pelvic floor ultrasound: the distinction between true rectocele, perineal hypermobility and enterocele.

OBJECTIVES: Posterior compartment descent may encompass perineal hypermobility, isolated enterocele or a 'true' rectocele due to a rectovaginal septal defect. Our objective was to determine the prevalence of these conditions in a urogynecological population. METHODS: One hundred and ninety-eight women were clinically evaluated for prolapse and examined by translabial ultrasound, supine and after voiding, using three-dimensional capable equipment with a 7-4-MHz volume transducer. Downwards displacement of rectocele or rectal ampulla was used to quantify posterior compartment prolapse. A rectovaginal septal defect was seen as a sharp discontinuity in the ventral anorectal muscularis. RESULTS: Clinically, a rectocele was diagnosed in 112 (56%) cases. Rectovaginal septal defects were observed sonographically in 78 (39%) women. There was a highly significant relationship between ultrasound and clinical grading (P < 0.001). Of 112 clinical rectoceles, 63 (56%) cases showed a fascial defect, eight (7%) showed perineal hypermobility without fascial defect, and in three (3%) cases there was an isolated enterocele. In 38 (34%) cases, no sonographic abnormality was detected. Neither position of the ampulla nor presence, width or depth of defects correlated with vaginal parity. In contrast, age showed a weak association with rectal descent (r = -0.212, P = 0.003), the presence of fascial defects (P = 0.002) and their depth (P = 0.02). CONCLUSIONS: Rectovaginal septal defects are readily identified on translabial ultrasound as a herniation of rectal wall and contents into the vagina. Approximately one-third of clinical rectoceles do not show a sonographic defect, and the presence of a defect is associated with age, not parity.

Adult↗

PubMed1991

Is the benign joint hypermobility syndrome benign?

Over a period of two years, joint hypermobility was identified in 95 female and 19 male patients who attended rheumatology and rehabilitation units in Ismailia city. Pauciarticular pains referring to large and medium-sized joints was their most frequent complaint. Clinical diagnosis of carpal and/or tarsal tunnel syndromes was made in 45.6% of patients, and various forms of soft tissue rheumatism were evident in 73% of them. On radiologic evaluation of the involved joints, 60.5% of the examined patients showed significant degenerative lesions. The most prominent finding in the study, however, was the aggregation of varieties of articular and extra-articular abnormalities in the same patient. Extra-articular features included high frequencies of occurrence of varicose veins, piles and uterine prolapse among other abnormalities. Thus, results of the study lend support to the view that joint hypermobility predisposes to several articular and nonarticular lesions raise serious questions about the reputable benignity of the syndrome.

Adolescent↗

PubMed2006

Prevalence of incontinence in women with benign joint hypermobility syndrome.

The objective of this study was to determine whether the prevalence of urinary and anal incontinence in women with benign joint hypermobility syndrome (BJHS) was more than in a control group without this condition. The International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF) and the Manchester Health Questionnaire were sent to 30 patients with benign joint hypermobility syndrome and 30 healthy women without this condition and results were compared. It was found out that the prevalence of urinary incontinence in the study group we surveyed was 18/30 and in the control group was 9/30 (60 vs 30%; p=0.037). Twenty-three percent (7/30) of the women with BJHS had a problem with anal incontinence but none of the controls had problems with anal incontinence (23 vs 0%; p=0.01). Therefore, the prevalence of both urinary and anal incontinence appears to be significantly higher in women with BJHS when compared to women without this condition.

Adult↗

PubMed2000

Ultrasonographic, axial, and peripheral measurements in female patients with benign hypermobility syndrome.

Twenty-five female Caucasians, aged 19-57 years, with the hypermobility syndrome had bone density measurements using established noninvasive techniques such as dual X-ray absorptiometry (DXA), single photon absorptiometry (SPA), heel ultrasound (US), and peripheral computed tomography (pQCT) acquisitions of the radius. As a group, comparisons of the different bone indices with the corresponding age-matched reference population resulted in normal z-scores for the arial densities, however, values for the volumetric total and cortical bone at the radius measured by pQCT were significantly lower than expected (P < 0.0001). Spinal and femoral bone density results were significant after correction for body mass index (BMI). This cross-sectional study shows that the benign hypermobility syndrome patients have lowered t-scores for data reflecting bone structure and bone strength as measured with US and the tomographic technique.

Absorptiometry, Photon↗

PubMed2003

Early-onset hemochromatic arthropathy in a patient with idiopathic hypermobility syndrome.

Hemochromatosis is a genetic disease related to human leukocyte antigen (HLA) A3, B7, and B14 histocompatability antigens resulting in increased iron absorption from the gastrointestinal tract and deposition of iron in tissues. Arthropathy is not uncommon in the late stage of disease. Characteristic radiologic findings are commonly observed in the wrists and metacarpophalangeal joints as well as the hips, knees, and ankle joints. Presented here is a 34-year-old male with hemochromatosis and bilateral shoulder, knee, and ankle pain. Radiologic examination revealed osteoarthritic findings in both ankle joints and chondrocalcinosis in the knee joints. All the major criteria of hypermobility syndrome were observed on physical examination. The early-onset arthropathy seen with this hemochromatosis is thought to result from hypermobility syndrome.

Adult↗

PubMed2006

Generalized joint laxity and contralateral patellar hypermobility in unilateral recurrent patellar dislocators.

PURPOSE: The purpose of this study was to assess the relation between generalized joint laxity and patellar hypermobility in unilateral recurrent patellar dislocators. TYPE OF STUDY: Case series. METHODS: A total of 82 patients (23 male and 59 female patients) with unilateral recurrent patellar dislocation were studied compared with an age- and sex-matched control group. The modified Carter and Wilkinson criteria for generalized joint laxity and lateral patellar hypermobility test were examined. RESULTS: Generalized joint laxity (score of 4 or 5) was present in 20 patients (24%) with recurrent patellar dislocation in 8 subjects (10%) of the control group. The mean total score was 2.5 (SD, 1.4) in the recurrent patellar dislocators and 1.7 (SD, 1.3) in the control group. The incidence of generalized joint laxity (P = .013) and the mean total score (P = .00004) were statistically significant between the two groups. A hypermobile patella was present in 42 patients (51%) and in 5 subjects (6%) of the control group. There was a large statistically significant difference between the two groups (P < .00001). CONCLUSIONS: Although a hypermobile patella and generalized joint laxity were significant between the recurrent patellar dislocators and the control group, a hypermobile patella was more significant than generalized joint laxity as the predisposing factors of patellar dislocation. LEVEL OF EVIDENCE: Level IV, prognostic case series.

Adolescent↗

PubMed2003

Joint hypermobility.

Joint hypermobility is an area of neglect in rheumatology. That is not to say it is overlooked by rheumatologists. It is spotted when sought, but for many unfortunate patients, here the story ends. The act of recognition becomes the goal in itself rather than the medium through which effective therapy can be provided. This chapter serves to reinforce the clinical and epidemiological importance of a common disorder whose significance is under-appreciated and impact largely ignored. In contradistinction to our earlier chapter, published in 2000, which took for its remit the heritable disorders of connective tissue in general, the current one focuses on the commonly encountered (so-called benign) joint hypermobility syndrome, its recognition, epidemiology, clinical features and management according to the most recent literature.

Humans↗

PubMedDate not supplied

Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue.

The hereditary disorders of connective tissues (HDCTs) encompass a spectrum of conditions linked pathophysiologically by abnormalities of collagen, fibrillin, and matrix proteins. The clinical picture ranges from morbidity because of musculoskeletal, skin, ocular and visceral pathologies to mortality from acute vascular collapse. For many of the conditions, there is a considerable overlap in clinical features, although severity varies; appreciating the subtle differences in presentation is vital to the clinician in determining the diagnosis. Though conditions associated with severe vascular pathology are rare, other hereditary disorders of connective tissues such as the joint hypermobility syndrome and Stickler's disease are common and probably underrecognized. Abnormal skin elasticity and scaring, joint hypermobility, and chronic arthralgia are important clues that should trigger the clinician to search for underlying hereditary disorders of connective tissues. In this article, we discuss the spectrum of clinical findings, management, and genetic screening of the more common hereditary disorders of connective tissues, highlighting their diagnostic criteria and their differences.

Connective Tissue Diseases↗

PubMed1999

Marshall-Marchetti-Krantz urethropexy and Burch colposuspension for stress urinary incontinence in women with low pressure and hypermobility of the urethra: early results of a prospective randomized clinical trial.

OBJECTIVE: The aim of the study was to compare the effects of Burch colposuspension and Marshall-Marchetti-Krantz urethropexy with videourethroscopic control in the correction of stress urinary incontinence in patients with low pressure and hypermobility of the urethra. STUDY DESIGN: Thirty women were randomly assigned to undergo 1 of the 2 surgical procedures from November 1993 to May 1996 (15 Burch colposuspensions and 15 Marshall-Marchetti-Krantz urethropexies) and were evaluated subjectively and objectively for stress urinary incontinence at 2 and 12 months. Data obtained were analyzed with the Student t test, the Fisher exact test, and the Wilcoxon signed rank test. RESULTS: At 1 year of follow-up 15 women in the Marshall-Marchetti-Krantz urethropexy group (100%) and 10 women in the Burch colposuspension group (66%) were subjectively considered cured (P =.02, 2-tailed Fisher exact test), and stress test results were negative in 14 women (93%) and 8 women (53%), respectively (P =.017, 2-tailed Fisher exact test). The resumption of spontaneous voiding was attained after 6.5 +/- 3.3 days in the Burch colposuspension group and in 20.5 +/- 13.4 days in the Marshall-Marchetti-Krantz urethropexy group (P <.001, 2-tailed Wilcoxon rank sum test). CONCLUSION: The high cure rate and low associated morbidity mark the Marshall-Marchetti-Krantz procedure with videourethroscopic control as more effective than Burch colposuspension in repairing stress urinary incontinence associated with low pressure and hypermobility of the urethra.

Adult↗

PubMed1996

Generalized joint hypermobility as a factor in clicking of the temporomandibular joint.

Twenty-six patients with clicking or locking of the temporomandibular joint (TMJ) and 28 age- and sex-matched controls were assessed for generalized joint hypermobility by BEIGHTON's method. Function of the masticatory apparatus was measured with FRICTON's Craniomandibular Index. The TMJ patients had significantly higher joint mobility scores, but within the patient group there was no correlation between either the dysfunction or palpation scores and the hypermobility scores. The findings are interpreted as supporting multiple causes of TMJ internal derangement, one of which is a systemic joint factor.

Adolescent↗

PubMed2000

Ball urethroplasty combined with Marshall-Marchetti-Krantz urethropexy versus suburethral sling in patients with intrinsic sphincter deficiency and urethral hypermobility.

OBJECTIVE: It was our goal to compare the efficacy of a suburethral fascial sling with that of a combination of Marshall-Marchetti-Krantz urethropexy and Ball urethroplasty in patients with intrinsic sphincter deficiency and urethral hypermobility. STUDY DESIGN: This study consisted of a retrospective observational evaluation of patients from 2 separate practice sites. Preoperative and postoperative data were collected from patients' medical records. The long-term results were based on a mailed questionnaire addressing bladder symptoms and quality-of-life issues. RESULTS: Among a total of 48 patients, 37 (77. 1%) responded in the group undergoing Marshall-Marchetti-Krantz urethropexy combined with Ball urethroplasty, and 30 out of 35 (85.7%) patients replied in the suburethral fascial sling group. The mean length of follow-up was 2. 7 years (range, 1-5 years). The patients were similar in age, hormonal status, parity, and previous bladder neck surgery. Similar cure and improvement were demonstrated in both groups (86.6% in the suburethral fascia group and 89.2% in the group with the Marshall-Marchetti-Krantz procedure combined with Ball urethroplasty). No significant differences were found in urinary incontinence types, irritable bladder symptoms, voiding difficulties, or quality-of-life measures. CONCLUSIONS: The suburethral fascial sling and a procedure consisting of Marshall-Marchetti-Krantz urethropexy combined with Ball urethroplasty have similar results in patients with intrinsic sphincter and urethral hypermobility.

Adult↗

PubMed2001

Effects of pubovaginal sling procedure on patients with urethral hypermobility and intrinsic sphincteric deficiency: would they do it again?

OBJECTIVE: This study was undertaken to assess the cure rate of stress urinary incontinence, long-term effects on other lower urinary tract symptoms, and quality of life in a cohort of patients who underwent pubovaginal sling procedures for treatment of incontinence related to intrinsic sphincteric deficiency and urethral hypermobility. STUDY DESIGN: This was a retrospective analysis of 57 patients with 90% follow-up who underwent pubovaginal autologous fascial sling procedures for stress urinary incontinence related to urethral hypermobility and intrinsic sphincteric deficiency. Objective postoperative urodynamic evaluation was performed in 34 (60%) of the cases. Telephone interviews to assess quality-of-life parameters were performed in all cases. RESULTS: The mean follow-up period was 42 months and the median follow-up period was 34 months, with a range of 0.5 to 134 months. The age at the time of the sling procedure ranged from 18 to 84 years, with a median parity of 3.0 (range, 0-6). Preoperative body mass index ranged from 19.5 to 39.1 kg/m(2). Five percent of patients had detrusor instability before the operation. Forty-one percent (41%) of the patients who underwent postoperative urodynamic evaluation had voiding dysfunction. The postoperative objective cure rate for stress urinary incontinence was 97%. Of all patients 88% indicated that the sling had improved the quality of life, 84% indicated that the sling relieved the incontinence in the long-term, and 82% would choose to undergo the procedure again. CONCLUSION: Construction of a pubovaginal sling is an effective technique for relief of severe stress urinary incontinence. Voiding dysfunction is a common side effect. Despite this problem, a significant number of patients would elect to undergo the procedure again.

Adolescent↗

PubMed2001

Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility.

A significant association with asymptomatic joint hypermobility was observed in 37 children with a history of infantile hypertrophic pyloric stenosis (P =.0016) and their parents (mothers, P <.0001; fathers, P <.05). The subjects with articular hypermobility showed an increased frequency of absent mandibular frenulum, thereby suggesting the presence of a previously unrecognized, systemic abnormality of the extracellular matrix.

Extracellular Matrix↗

PubMed1992

Temporomandibular joint osteoarthrosis and generalized joint hypermobility.

Peripheral joint mobility of temporomandibular joint (TMJ) osteoarthrosis and internal derangement patients (n = 25) and of a control group (n = 29) was measured according to a rigidly standardized protocol, in order to study the relationships between TMJ osteoarthrosis and internal derangement and generalized joint hypermobility. No significant differences in peripheral joint mobility between the two groups were found. Therefore, generalized joint hypermobility cannot be considered as a predisposing factor for TMJ osteoarthrosis.

Adolescent↗

PubMed1994

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue. The type III variety is characterized by joint hypermobility and minor hyperextensibility and softness of the skin. While collagen fibril structure has been shown to be abnormal in such patients, the underlying molecular defect(s) has not been determined. Here we characterize the first mutation found in a family with EDS III. Analysis of cultured fibroblasts from the affected family revealed intracellular retention of type III collagen. This is usually a biochemical characteristic of EDS IV, caused by mutations of COL3A1. Analysis of the cDNA sequence in this EDS III family revealed a glycine to serine mutation at amino acid residue 637 of the type III collagen molecule. This was confirmed by allele-specific oligonucleotide hybridization against amplified genomic DNA. Thus mutations of type III collagen can cause either EDS IV or EDS III. Two affected family members had virtually normal skin and so more closely resembled the phenotype of articular hypermobility syndrome.

Adult↗

PubMed1985

Relationship of ankle strength and hypermobility to squatting skills of children with Down syndrome.

We used ankle goniometric and force measures to determine the relative contribution of hypermobility and strength to heels-down squatting (HDS) in four groups: eight children with Down syndrome, eight hypermobile children, six retarded children, and seven children with normal development. Analysis of variance and across group correlations revealed force as a major but not sole contributor to HDS; hypermobility was found not to have significant influence. Heels-down squatting may be a compensatory mechanism resulting from underdeveloped balance or irregular activation of agonist-antagonist relations around the ankle joint.

Adolescent↗