Alan Hakim

A Prospective Evaluation of Undiagnosed Joint Hypermobility Syndrome in Patients With Gastrointestinal Symptoms

BACKGROUND & AIMS The Joint Hypermobility Syndrome (JHS) is a common connective tissue disorder characterized by joint hyperflexibility, dysautonomia, and chronic pain. Gastrointestinal (GI) symptoms are reported in JHS patients attending rheumatology clinics, but the prevalence and symptom pattern of previously undiagnosed JHS in GI clinics are unknown. METHODS By using validated questionnaires, a prospective cross-sectional study in secondary care GI clinics estimated the prevalence of JHS in new consecutively referred patients, compared GI symptoms in patients with and without JHS, and by using multiple regression determined whether the burden of GI symptoms in JHS patients was dependent on chronic pain, autonomic, psychological, and medication related factors. A positive control group consisted of JHS patients referred from rheumatology clinics with GI symptoms (JHS-Rh). RESULTS From 552 patients recruited, 180 (33%) had JHS (JHS-G) and 372 did not (non-JHS-G). Forty-four JHS-Rh patients were included. JHS-G patients were more likely to be younger, female with poorer quality of life (P = .02) than non-JHS-G patients. After age and sex matching, heartburn (odds ratio [OR], 1.66; confidence interval [CI], 1.1-2.5; P = .01), water brash (OR, 2.02; CI, 1.3-3.1; P = .001), and postprandial fullness (OR, 1.74; CI, 1.2-2.6; P = .006) were more common in JHS-G vs non-JHS-G. Many upper and lower GI symptoms increased with increasing severity of JHS phenotype. Upper GI symptoms were dependent on autonomic and chronic pain factors. CONCLUSIONS JHS is common in GI clinics, with increased burden of upper GI and extraintestinal symptoms and poorer quality of life. Recognition of JHS will facilitate multidisciplinary management of GI and extra-GI manifestations.

Functional gastrointestinal disorders are associated with the joint hypermobility syndrome in secondary care: a case–control study

The overlap of unexplained gastrointestinal (GI) and somatic symptoms is well established in patients with functional gastrointestinal disorders (FGID). Joint hypermobility syndrome (JHS) is a non‐inflammatory connective tissue disorder associated with GI and somatic symptoms. We aimed to determine whether there is an association between diagnosis of JHS and FGID and the impact of this association on comorbidities and quality of life (QOL).

A study exploring the prevalence of Joint Hypermobility Syndrome in patients attending a Musculoskeletal Triage Clinic

© 2014 IOS Press and the authors. BACKGROUND: Generalised joint hypermobility (GJH) is common in the general population and may not confer any adverse symptoms. Joint Hypermobility Syndrome (JHS) is a connective tissue disorder that often runs in families and may present with a complex array of signs and symptoms. JHS is under-recognised and often poorly managed by the medical and physiotherapy professions. OBJECTIVES: The primary aim of this study was to investigate the prevalence of GJH and JHS in patients attending a Musculoskeletal Triage Clinic. Secondary aims of this study were to explore the health-related quality of life, pain levels, primary pain area and number of painful joints in patients with and without JHS. METHOD: A cross-sectional study design was used. The participant population included a convenience sample from patients attending a Musculoskeletal Triage Clinic based in a Primary Care setting in London. The main outcome tools were the Beighton Score, Brighton Criteria, the EQ-5D-5 L and the Visual Analogue Scale (VAS). RESULTS: A total of 150 participants were recruited into the study. GJH was recorded in 19% of participants and JHS was recorded in 30% of participants. Participants with JHS reported a greater number of painful joints (p < 0.05) than those without. No difference was found in the EQ-5D-5 L and the global VAS scores between the group with JHS and the group without. Participants with JHS (p < 0.01) were found to be more likely to present with wrist/hand pain as their main problem compared to those without JHS. CONCLUSIONS: This study found GJH in 19% and JHS in 30% of participants attending a Musculoskeletal Triage Clinic. This study also found that patients with JHS are likely to present with a greater number of painful joints and are more likely to present with wrist/hand pain as their main problem than those without JHS.

Second-line agents in myositis: 1-year factorial trial of additional immunosuppression in patients who have partially responded to steroids

Objective. Ciclosporin and MTX are used in idiopathic inflammatory myopathies (DM and PM) when patients incompletely respond to glucocorticoids. Their effectiveness is unproved in randomized controlled trials (RCTs). We evaluated their benefits in a placebo-controlled factorial RCT. Methods. A 56-week multicentre factorial-design double-blind placebo-controlled RCT compared steroids alone, MTX (15–25 mg weekly) plus steroids, ciclosporin (1–5 mg/kg/day) plus steroids and all three treatments. It enrolled adults with myositis (by Bohan and Peter criteria) with active disease receiving corticosteroids. Results. A total of 359 patients were screened and 58 randomized. Of the latter, 37 patients completed 12 months of treatment, 7 were lost to follow-up and 14 discontinued treatment. Patients completing 12 months of treatment showed significant improvement (P < 0.001 on paired t-tests) in manual muscle testing (14% change), walking time (22% change) and function (9% change). Intention to treat and completer analyses indicated that ciclosporin monotherapy, MTX monotherapy and ciclosporin/MTX combination therapy showed no significant treatment effects in comparison with placebo. Conclusion. Neither MTX nor ciclosporin (by themselves or in combination) improved clinical features in myositis patients who had incompletely responded to glucocorticoids. Trial Registration: International Standard Randomized Controlled Trial Number Register; http://www.controlled-trials.com/; ISRCTN40085050

A case of polymyalgia rheumatica, microscopic polyangiitis, and B-cell lymphoma

Background A 73-year-old, previously well woman was admitted to an emergency department because of a 3-month history of severe proximal girdle pain and stiffness with loss of appetite and weight. She was referred to a rheumatologist 10 days after her initial presentation. Within 4 weeks she presented to an outpatient clinic with nausea, vomiting, shortness of breath, painful mouth ulcers, rash on her legs and a further decline in appetite; she was readmitted to hospital. Within 4 months of initial presentation she became jaundiced.Investigations At initial presentation, physical examination, biochemical, hematological and autoimmune screening, radiography of the pelvis, an abdominal ultrasound, and electromyography were conducted. At referral to a rheumatologist similar tests were repeated. At presentation to the outpatient clinic, hematological and biochemical screening, and a urine dipstick test were conducted. At readmittance to hospital, infectious and autoimmune screening, radiography of the chest, electrocardiogram, ultrasound of the abdomen, and renal biopsy were conducted. At the time of development of jaundice, biochemical and hematological screening, CT of the abdomen and ultrasound-guided biopsy of a pancreatic mass were conducted.Diagnosis Polymyalgia rheumatica, antineutrophil-cytoplasmic-antibody-positive microscopic polyangiitis with renal involvement and B-cell lymphoma of the head of the pancreas.Management The patient received oral prednisolone 15 mg daily for polymyalgia rheumatica along with alendronate 70 mg weekly. The patient received intravenous cyclophosphamide 500 mg and methylprednisolone 500 mg every 2 weeks for her microscopic polyangiitis with renal involvement. For B-cell lymphoma of the head of the pancreas, the patient received cyclophosphamide, doxorubicin, vincristine and prednisolone once monthly.

Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type

Abstract Purpose: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type and to explore patient experiences of physiotherapy. Methods: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers–Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. Results: 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30–2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38–5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication – knowledge, experience and safety. Conclusion: Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers–Danlos syndrome – hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers–Danlos syndrome/Ehlers–Danlos syndrome – hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

Laryngological presentations of Ehlers-Danlos syndrome: case series of nine patients from two London tertiary referral centres

Ehlers–Danlos syndrome (EDS) is a heterogeneous heritable disorder of connective tissue characterised by hypermobilityof the joints, skin hyperextensibility and tissue fragility. It does not have racial or gender predilection. The Villefranche classification divides it into six major forms: classic, hyper-mobility, vascular, kyphoscoliosis, arthrochalasia and der-matosparaxis1(Table 1), replacing the older nosology that described types I–XI.2Most patients have a normal or near-normal life expectancy, with variable morbidity. However,the vascular type is associated with the serious complications of spontaneous arterial rupture and visceral perforation.