Criteria For Joint Hypermobility Syndrome Research Articles

AB1058 JOINT HYPERMOBILITY SYNDROME AND PRIMARY OPEN-ANGLE GLAUCOMA

Background:Eye symptoms: myopia, prolapse of the upper eyelid, epiblepharon in the upper eyelid are small diagnostic criteria for joint hypermobility syndrome (JHS).There are few publications in the literature on the relationship between JHS and primary open-angle glaucoma (POAG).It is known that in the development of JHS, the distribution of collagen of types I and III with the predominance of collagen of type III is important, the latter is encoded by the COL3A1 gene. When using POAG in the connective tissue of the middle and deep layers of the sclera by the immunohistochemical method, intense focal accumulation of type I and III collagen was previously revealed, and in the layers of the sclera’s own substance, type III collagen, unusual for it.Objectives:To study articular and extraarticular clinical manifestations, instrumental, laboratory signs, as well as to conduct molecular genetic studies on the carriage of the Col3Al gene in patients with a diagnosis of POAG and compare them.Methods:Nine consecutive patients with an established diagnosis of POAG (burdened heredity by glaucoma) with arthralgia were sent for consultation to the V.A. Nasonova Research Institute of Rheumatology from the Moscow Helmholtz Research Institute of Eye Diseases. All patients are women, the average age is 56.7 ± 10.5 years, the average Beighton score - 4.86 ± 1.7, the mean value of the Westergren ESR - 11,8 ± 5.1 mm/h, CRPhs- 4.9 ± 9.4 mg / 1, all of them were seronegative for rheumatoid factor (RE) and ACCP. All patients responded to the JHS diagnosis according to the 1998 Brighton diagnostic criteria. DNA was isolated from the leukocyte fraction of venous blood using the Wizard DNA Purification Kit (Promega) according to the manufacturer’s instructions. The study of gene polymorphisms was performed by the method of minisequencing with subsequent time-of-flight mass spectrometry of a sample on a matrix (MALDI-TOF) in the clinical diagnostic laboratory of NPF L1TEX LLC using a standard protocol (Wise C.A., 2003).Results:9 patients had arthralgia, 8 - vertebralgia, 3 - myalgia. 2 had a history of wrist joint dislocation, 7 had flat feet (3 of them had Hallucis valgus), 5 had spondylosis and spondylolisthesis (protrusions and disc herniation according to MRI of the spine), and 4 had excessive skin and / or striate atrophy of skin. Extraarticular manifestations: mitral valve prolapse was detected in 3 patients (in 1 of them + atrial septal defect) with ultrasound of the heart, in 3 - descent of the internal organs (nephroptosis, uterine prolapse), in 4 - pronounced varicose veins of the lower extremities. All patients had a carrier state of the A allele identified by marker C.2092G> A and C allele c.2244T> C of the COL3A1 gene, and a family history of glaucoma. Identification of compliance with JHS diagnostic criteria and the presence of genetic factors (COL3A1 gene) in patients with POAG is of great scientific importance, since it confirms not only clinical associations, but also the genetic proximity of these two conditions. It is also difficult to overestimate the practical value, since patients with POAG need the help of a doctor in the treatment of their articular and other non-ophthalmological manifestations of JHS, and establishing a diagnosis of JHS will require a more thorough examination of the eyes in terms of detecting POAG, its treatment or prevention.Conclusion:The association of JHS, POAG and COL3A1 gene necessitates further study of the association of JHS and POAG: POAG as a clinical manifestation of JHS, on the one hand, and the role of JHS as a possible risk factor for the development of POAG - on the other hand.Table 1.Demographic, clinical and laboratory characteristics of patients with Schnitzler’s syndromePtsThe age (y)The age at onset (y)Diagnosis delay (y)ESR (<15 mm/h)СRP (<6g/l)M-gradient (g/l)AnakinraCanakinumabThe treatment duration (y)151404311077,1015253282240295,7000336293140447,80134585331001927,6110,556966249965,1110,5Abbreviations: Pts – patients, y- years, ESR – erythrocyte sedimentation rate, CRP – C-reactive proteinDisclosure of Interests:None declared

Differences in body structure and function between patients with systemic lupus erythematosus and healthy individuals, with particular reference to joint hypermobility

Objectives: To explore differences in body structure and function in systemic lupus erythematosus (SLE) patients and controls, with particular reference to joint hypermobility, and to evaluate the usefulness of the Brighton criteria for diagnosing joint hypermobility syndrome (JHS) in SLE.Method: Female SLE patients were, according to age group, consecutively invited to participate in the study. Controls were healthy females matched for age. All individuals were examined by a physician according to the Brighton criteria, and by an occupational therapist and a physiotherapist to obtain the Beighton scores, overall joint mobility, and manifestations in body structure and function.Results: Sixteen (23%) SLE patients and 19 (27%) controls had a Beighton score ≥ 4 (non-significant, ns), and 39 (55%) individuals in the SLE group and 22 (31%) in the control group satisfied the Brighton criteria for JHS (p < 0.01). Many individuals in both groups exceeded the normative values for joint mobility in joints other than those included in the Beighton score. Stratifying for a Beighton score ≥ 4 vs. < 4, there were no significant differences in body structure or body function constituting JHS either in the SLE patients or in the controls.Conclusions: Although the presence of joint hypermobility in SLE patients was frequent, we could not verify that this caused excess manifestations in addition to the SLE symptoms.

Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?

Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?

Association between Psychopathological Factors and Joint Hypermobility Syndrome in a Group of Undergraduates from a French University

To explore the frequency of Joint Hypermobility Syndrome (JHS) among university students and assess whether a relationship exists between this collagen condition and certain psychological variables. A cross-sectional sample of 365 undergraduates at a French university was assessed with the Brighton's criteria for JHS, Somatosensory Amplification Scale (SSAS), Liebowitz Social Anxiety Scale (LSAS), and Hospital Anxiety and Depression Scale (HADS). 39.5% of the participants met Brighton's criteria for JHS. Scores of somatosensory amplification were higher among participants with JHS (t = -2.98; p = 0.03) independent of gender. Female participants with JHS had higher scores in depression (t = -2.01; p = 0.04) and general anxiety (t = -2.35; p = 0.01) than women without JHS. The percentage of males with a medium/high level of social anxiety was greater among participants with JHS (78.6% vs. 41.7%; chi2 = 6.18;p = 0.01). Logistic regression demonstrated that male sex and low level of somatosensory amplification are variables contrary to the presence of JHS. JHS is a frequent condition among young people evaluated. JHS is associated with psychological distress and higher levels of somatosensory amplification.

Local anaesthetic failure in joint hypermobility syndrome

When taking biopsies to assess skin strength in Ehlers–Danlos syndrome type III (EDS–III), a Danish group noticed that the patients experienced much pain despite conventional local anaesthesia.1 When asked, all these patients reported previous experience of partial or complete failure of local anaesthesia in dental or obstetric procedures—for which reason some had been dismissed as hysterics. Pursuing this finding, Arendt-Nielsen et al.2 compared the effects of local anaesthesia in 8 patients with EDS–III and 8 controls. Although the patients did gain analgesia from intradermal lidocaine the duration of effect was much shorter than in controls. EDS–III (now known as EDS–hypermobility type) is regarded by many authorities as identical to joint hypermobility syndrome (JHS).3,4 We wish to draw attention to the possibility of resistance to local anaesthesia in individuals with this common and under-diagnosed condition. Box 2 Five-part questionnaire for identifying hypermobility (Ref. 7) Answers in the affirmative to 2 or more questions suggest hypermobility with sensitivity 80–85% and specificity 80–90% Can you now (or could you ever) place your hands flat on the floor without bending your knees? Can you now (or could you ever) bend your thumb to touch your forearm? As a child did you amuse your friends by contorting your body into strange shapes OR could you do the splits? As a child or teenager did your shoulder or kneecap dislocate on more than one occasion? Do you consider yourself double-jointed? Box 3 Brighton criteria for joint hypermobility syndrome (JHS) (Ref. 8) JHS is diagnosed in the presence of two major criteria, or one major and two minor criteria, or four minor criteria. Two minor criteria will suffice where there is an unequivocally affected first-degree relative. Major Beighton score of 4 out of 9, or more (either currently or historically) Arthralgia for longer than 3 months in four or more joints Minor A Beighton score of 1, 2 or 3 out of 9 (0, 1, 2 or 3 if aged 50+) Arthralgia in 1–3 joints, or back pain or spondylosis, spondylolysis/spondylolisthesis Dislocation in more than one joint, or in one joint on more than one occasion Three or more soft tissue lesions (e.g. epicondylitis, tenosynovitis or bursitis) Marfanoid habitus (tall, slim, arm span >height, arachnodactyly) Skin striae, hyperextensibility, thin skin or abnormal scarring Eye signs: drooping eyelids, or myopia, or anti-mongoloid slant Varicose veins, or hernia, or uterine/rectal prolapse Many normal people have hypermobile joints and medical diagnosis of the medical syndrome requires symptoms—which can include chronic pain, impairment of proprioception, and temporomandibular joint dysfunction (a manifestation of which dentists may be unaware).5 JHS is overrepresented in general rheumatology clinic populations and in our experience (RG and AJH)6 many of these patients report failure of local anaesthetics. This matter was addressed briefly in a paper published in 2003.7 A questionnaire was completed by 172 female Caucasian JHS patients, 53 non-hypermobile age-matched controls, and 28 individuals who showed evidence of hypermobility with insufficient features to qualify for JHS (HM-sine-JHS) as defined by the Brighton criteria.8 We asked ‘If you have ever had a local anaesthetic injection (dentist/minor surgery/epidural), did you think that it was as effective as it should have been?’. 58% of JHS patients, 21% of controls and 14% of the HM-sine-JHS group answered in the negative. For JHS versus controls the odds ratio was a highly significant 2.85. Although the question was simplistic, non-exploratory, and reliant on recall and selfperception, the difference between JHS and controls was striking. Neither group had knowledge of any study hypothesis. At the time there was nothing of this nature documented in patient information sheets or published research. We suspect that in many people JHS goes unrecognized. So, how can a busy clinician, mindful of possible resistance to local anaesthesia, make the diagnosis? There are two easy methods for identifying hypermobility—carry out a Beighton score9 (Box 1); or ask the patient to answer a five-part screening questionnaire7 (Box 2). The phenotype is shown in Box 3. Box 1 The nine-point Beighton hypermobility score (Ref. 9) One point may be gained for each side for manoeuvres 1–4 so that the hypermobility score will have a maximum of nine points if all are positive. A score of ≥4/9 indicates widespread ... Although the pathophysiology of this phenomenon remains unresolved, an important clue that a patient is at risk of local anaesthetic failure might be in front of our eyes.

Association between joint hypermobility syndrome and panic disorder.

The purpose of this study was to assess whether joint hypermobility syndrome is more frequent in patients with panic disorder, agoraphobia, or both than in control subjects and, if so, to determine whether mitral valve prolapse modifies or accounts in part for the association. A case-control study was conducted in a general teaching hospital outpatient clinic. Subjects were 99 patients, newly diagnosed and untreated, with panic disorder, agoraphobia, or both and two groups of age- and sex-matched control subjects: 99 psychiatric patients and 64 medical patients who had never suffered from any anxiety disorder. Measures consisted of the Structured Clinical Interview for DSM-III-R, Beighton's criteria for joint hypermobility syndrome, and two-dimensional and M-mode echocardiogram. The presence of mitral valve prolapse and joint hypermobility syndrome was explored by raters who were blind to subjects' psychiatric status. Joint hypermobility syndrome was found in 67.7% of patients with anxiety disorder but in only 10.1% of psychiatric and 12.5% of medical control subjects. On the basis of statistical analysis, patients with anxiety disorder were over 16 times more likely than control subjects to have joint laxity. These findings were not altered after the presence of mitral valve prolapse was taken into account. Of the patients with anxiety disorder, those who had joint hypermobility syndrome were younger and more often women and had an earlier onset of the disorder than those without joint hypermobility syndrome. Joint laxity is highly prevalent in patients with panic disorder, agoraphobia, or both and may reflect a constitutional disposition to suffer from anxiety. Mitral valve prolapse plays a secondary role in the association between joint hypermobility and anxiety.