Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology.

OBJECTIVES: Hypophosphatasia (HPP) is a rare genetic metabolic bone disease that can cause chronic pain and fractures. Its hallmark is a persistently low serum ALP. HPP is now recognised by many osteoporosis specialists, but other specialists, such as rheumatologists and primary care physicians, may be less aware of this condition, causing diagnostic delay and possible harm to these patients. Our objective was to highlight features that can reduce this delay. METHODS: We retrospectively analysed 14 patients that presented with musculoskeletal pain to general rheumatology clinic at St. George's Hospital and were subsequently diagnosed with HPP. RESULTS: Median diagnostic delay was 13 years. All patients had an ALP below reference range for age and gender, with lowest mean ALP of 16 IU/L. All but one patient were women with median age of 51 years. Most common presentation was peripheral joint pain in 85.7% of patients. This was due to early-onset CPPD (calcium pyrophosphate deposition disease) in 71.4% of patients, osteoarthritis in 50%, or bursitis in 50%. Axial pain was reported in 64% of patients due to osteoarthritis or spinal stenosis. Fifty percent of patients had a history of long bone pain. Fifty percent had previous fracture(s). A total of 28.6% of patients had psoriatic arthritis, of which 1 patient had spondyloarthropathy, and 4 patients also had enthesitis. CONCLUSION: Patients with HPP can present to rheumatology with musculoskeletal pain, and if a persistently low ALP is confirmed, this may reduce the diagnostic delay of this rare disease. Similar to other rheumatologic patients, musculoskeletal pain in HPP was noted in peripheral joints and in the spine with almost a third of patients having psoriatic arthritis. Pain was also noted in the long bones, a feature consistent with metabolic bone disease. The diagnosis of HPP was also more likely in those patients with a personal or family history of dental disease or arthritis.

The Safety of Continued Oral Anticoagulation Therapy in Joint Injections and Aspirations: A Qualitative Review of the Current Evidence.

ABSTRACT: Performing joint aspirations and injections on patients taking long-term oral anticoagulants poses a clinical conundrum. This review aimed to quantify the safety of performing joint procedures in these patients in terms of bleeding risk. In addition, it aimed to identify, in those receiving vitamin K antagonists, what level of international normalized ratio (INR) is the safest.A review of the medical literature was performed (electronic searches in Ovid [MEDLINE], EMBASE, and the Cochrane Library). English language original reports of patients undergoing joint injections or aspirations performed on anticoagulant therapy, published within the last 10 years, were included.Seven studies met the inclusion criteria. Patients were taking a variety of anticoagulants: warfarin, acenocoumarol, and direct oral anticoagulants. Four cases of hemorrhage were reported after 5427 procedures, over a pooled 32-year period, across 9 centers. The INR values were available for 3 cases with bleeding complications: values were 1.9, 2.3, and 3.4.Authors of all studies concluded that joint injection is safe in patients on anticoagulants. A variety of joints and approaches, reversal, or withholding of anticoagulation and bridging with low molecular weight heparin did not seem to alter bleeding risk. Bleeding complications remained low even in those with renal or hepatic impairment or those taking concomitant antiplatelets.In conclusion, joint aspiration and injection are safe in patients taking anticoagulants. Anticoagulation should not be routinely discontinued in these patients; decisions should be made on a case-by-case basis. Because of low event numbers, a recommended safe maximum INR value for joint procedures cannot be determined.

Evaluating the delay prior to primary care presentation in patients with lung cancer: a cohort study.

BACKGROUND: Little is known about 'within-patient delay', which is the time from first symptom of lung cancer to contacting primary care. AIM: Primary outcomes were length of within-patient delay and the proportion of total delay it represents. Secondary outcomes were factors causing delay and survival. DESIGN & SETTING: A cohort study of newly diagnosed patients with lung cancer at two hospitals in Norfolk. METHOD: Patients completed questionnaires regarding onset of symptoms, whether they had delayed, and their reasons. GPs completed correlating questionnaires. Pathway times and other data were extracted from cancer registry and hospital records, and outcomes obtained prospectively. Factors causing delay were compared using ratios of geometric means. RESULTS: In 379 patients, mean within-patient delay and pre-secondary care delay were 188.6 days and 241 days (61.4% and 78.5% of total delay, respectively). It was found that 38.8% of patients felt they had delayed. Patient-related causes of delay were denial (ratio of means [ROM] = 4.36; P = 0.002, 95% confidence interval [CI] = 1.71 to 11.1); anxiety (ROM = 3.36; P = 0.026; 95% CI = 1.16 to 9.76); non-recognition of symptoms (ROM = 2.80; P = 0.004; 95% CI = 1.41 to 5.59); and smoking (ROM = 1.76; P = 0.021; 95% CI = 1.09 to 2.86), respectively. These symptoms were associated with delay: finger swelling or discomfort (ROM = 2.72; P = 0.009, 95% CI = 1.29 to 5.74); cough (ROM = 2.53; P<0.001; 95% CI = 1.52 to 4.19); weight loss (ROM = 2.41; P<0.001; 95% CI = 1.49 to 3.88); weakness (ROM = 2.35; P = 0.001; 95% CI = 1.45 to 3.83); dyspnoea (ROM = 2.30; P = 0.001; 95% CI = 1.40 to 3.80); voice change (ROM = 1.90; P = 0.010; 95% CI = 1.17 to 3.10); and sputum (ROM = 1.66; P = 0.039; 95% CI = 1.03 to 2.67), respectively, also having more than five symptoms (compared with 1-3) (ROM = 3.69; P<0.001; 95% CI = 2.05 to 6.64). No overall relation between within-patient delay and survival was seen. CONCLUSION: Using smoking registers, awareness literature, and self-care manuals, primary care staff could liaise with people who have ever smoked regarding their symptoms to ensure early referral to secondary care.

Resolution of adhesive small bowel obstruction with a protocol based on Gastrografin administration.

The use of Gastrografin may have a therapeutic effect on resolving adhesive small bowel obstruction. Adhesive Small Bowel obstruction (ASBO) accounts for the majority of patients with small bowel obstruction. Most patients are managed conservatively; frequent admissions create a considerable burden. We sought to examine the adherence to the Bologna guidelines for the management of ASBO in a high volume tertiary center and whether or not Gastrografin had a therapeutic effect. A comparison was made between an initial retrospective audit looking at ASBO and a prospective re-audit after applying standards derived from the Bologna guidelines. During re-audit it was found that more patients underwent conservative management and fewer patients had surgery as first line management. In the re-audit, those who had to undergo surgery within/after a period of 72h of conservative management were also fewer. Whether they were managed surgically primarily or after a period of conservative management, the average length of stay was also shorter. In comparison to the preliminary audit, there appeared to be no change in the way that medical history and physical examination was documented during the re-audit. However, there was a marked difference in the use of appropriate blood tests and CT scans. Changes were made successfully following the initial audit results and have been implemented, thus closing the audit loop. This study shows that the use of Gastrografin has decreased the need for surgical intervention in a group of patients with small bowel obstruction.

Radiology examination as a diagnostic aid in presentations with wide differential diagnoses: Case report of new Hodgkin's lymphoma on a background of poorly controlled HIV.

Hodgkin's lymphoma and disseminated Mycobacterium avium complex (MAC) infection share similar clinical features; both may affect human immunodeficiency virus (HIV)-positive individuals. We discuss a patient with poorly controlled HIV-infection presenting with chest sepsis, dyspnoea and weight loss. Whilst the initial working diagnosis was that of MAC infection, pathology results had not met diagnostic criteria. Lymph node biopsy instead revealed classical Hodgkin's lymphoma. We discuss the role of radiological examination in cases of diagnostic uncertainty.

Plasma Vascular Endothelial Growth Factor Concentration and Alveolar Nitric Oxide as Potential Predictors of Disease Progression and Mortality in Idiopathic Pulmonary Fibrosis.

BACKGROUND: Declining lung function signifies disease progression in idiopathic pulmonary fibrosis (IPF). Vascular endothelial growth factor (VEGF) concentration is associated with declining lung function in 6 and 12-month studies. Alveolar nitric oxide concentration (CANO) is increased in patients with IPF, however its significance is unclear. This study investigated whether baseline plasma VEGF concentration and CANO are associated with disease progression or mortality in IPF. METHODS: 27 IPF patients were studied (maximum follow-up 65 months). Baseline plasma VEGF concentration, CANO and pulmonary function tests (PFTs) were measured. PFTs were performed the preceding year and subsequent PFTs and data regarding mortality were collected. Disease progression was defined as one of: death, relative decrease of ≥10% in baseline forced vital capacity (FVC) % predicted, or relative decrease of ≥15% in baseline single breath diffusion capacity of carbon monoxide (TLCO-SB) % predicted. RESULTS: Plasma VEGF concentration was not associated with progression-free survival or mortality. There was a trend towards shorter time to disease progression and death with higher CANO. CANO was significantly higher in patients with previous declining versus stable lung function. CONCLUSION: The role of VEGF in IPF remains uncertain. It may be of value to further investigate CANO in IPF.

Behçet's pulmonary artery aneurysms treated with infliximab and monitored with the 6-min walk test.

Pulmonary involvement in Behçet's disease (BD) is uncommon; however, it is potentially fatal due to the risk of massive haemoptysis. We describe the case of a 36-year-old male presenting with a 2-month history of worsening dyspnoea, weight loss, haemoptysis, oral ulceration, erythema nodosum and superficial thrombophlebitis. He was diagnosed with pulmonary vasculitis secondary to BD; however, his symptoms were refractory to initial treatment with cyclophosphamide, azathioprine and prednisolone. We therefore trialled infliximab alongside methotrexate, which led to a remarkable improvement in his condition, enabling eventual discontinuation of prednisolone. Whilst not being one of the treatments currently recommended for managing pulmonary involvement in BD, infliximab has previously been successfully used in cases refractory to conventional therapy. We used the 6-min walk test (distance covered and lowest oxygen saturations) to monitor his progress, which correlated with his symptoms. This may represent a useful adjunct in monitoring the activity of pulmonary vasculitis.

Patient confidence and quality of life in idiopathic pulmonary fibrosis and sarcoidosis.

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) and sarcoidosis impact significantly on health-related quality of life (HRQOL). There are few studies on the impact of patient confidence on HRQOL in these conditions. OBJECTIVES: 1. To investigate whether patient confidence is associated with HRQOL, anxiety, depression, dyspnoea or fatigue. 2. To assess if patient confidence is associated with inpatient admissions, access to community healthcare and, for IPF patients, mortality and disease severity. METHODS: Study participants self-completed seven questionnaires: Hospital Anxiety and Depression Scale, EuroQol 5D (EQ5D), King's Brief Interstitial Lung Disease questionnaire, St George's Respiratory Questionnaire, MRC dyspnoea scale, Fatigue Assessment Scale and a non-validated questionnaire assessing patient confidence, symptom duration and access to community healthcare. Lung function and follow-up data were collected from hospital electronic databases. Spearman's rank correlation coefficients were calculated to assess for correlation between patient confidence, questionnaire variables and inpatient admissions. Chi-square tests were performed to assess for association between patient confidence, mortality and disease severity. RESULTS: 75 IPF patients and 69 sarcoidosis patients were recruited to the study. Patient confidence in IPF was significantly negatively correlated with depression and fatigue, and significantly positively correlated with EQ5D scores, but not healthcare outcomes. No associations were found between confidence and any of the variables assessed in sarcoidosis. CONCLUSIONS: Lower levels of confidence in IPF patients are associated with higher levels of depression and fatigue and worse HRQOL. Efforts should be made to improve patient confidence to assess the impact on HRQOL.

Determination of biometric measures to evaluate patient suitability for transoral robotic surgery.

BACKGROUND: Transoral robotic surgery (TORS) represents a novel treatment for oropharyngeal cancer and obstructive sleep apnea. Appropriate patient selection is crucial. The purpose of this study was to investigate whether anatomic biometric measures are useful to determine the feasibility of performing TORS. METHODS: Three surgeons independently evaluated feasibility in 51 soft-fix cadavers. Transoral visualization was performed with 2 retractors commonly used in TORS. Seven anthropometric parameters and the degree of mouth opening were recorded. RESULTS: Mandibular body height, hyoid-mental length, and neck circumference demonstrated significant differences between "suboptimal" and "adequate" visualization of base of tongue and epiglottis (p < .05). Limited mouth opening was associated with suboptimal visualization. Neck circumference had the strongest influence on predicting TORS feasibility. CONCLUSION: Mandibular body height, hyoid-mental length, and neck circumference in conjunction with the degree of mouth opening may determine patient suitability for TORS. Clinical evaluation is essential to validate their collective usefulness.