The impact of various antiplatelet strategies on the incidence of gouty arthritis in hospitalized patients with acute cerebral infarction.

OBJECTIVES: 1.To explore the incidence of concurrent gouty arthritis (GA) during hospitalization in patients with different subtypes of acute stroke. 2.To investigate disparities in acute cerebral infarction patients with coexisting GA undergoing various antiplatelet strategies. MATERIALS AND METHODS: Data from acute stroke patients admitted to the Affiliated Panyu Central Hospital of Guangzhou Medical University, from January 2019 to December 2021, underwent screening. The incidence of GA in acute stroke patients of various subtypes were analyzed. Subsequently, we divided cerebral infarction cases into three cohorts based on distinct antiplatelet therapies: the aspirin group, the dual antiplatelet therapy group (DAPT，aspirin plus clopidogrel), and the clopidogrel group. Investigate disparities in acute cerebral infarction patients with coexisting GA undergoing various antiplatelet strategies. RESULTS: A total of 12,381 patients with acute stroke were screened in this study. The incidence of GA in various subtypes of acute stroke was as follows: cerebral infarction (3.56 %, n = 9890), TIA (1.81 %, n = 443), cerebral hemorrhag (0.64 %, n = 1713), and SAH (0.30 %, n = 335). The incidence of GA in patients with ischemic stroke is higher than that of hemorrhagic stroke (χ2 = 49.258, p<0.001). No significant differences were observed in the incidence of GA among three different antiplatelet therapy groups. But there was marginal statistical difference in the incidence of GA between the aspirin group and the DAPT group (P = 0.051), as well as between the clopidogrel group and the DAPT group (P = 0.059). CONCLUSIONS: The incidence of GA in patients with ischemic stroke is higher than that of hemorrhagic stroke. No significant differences were observed in the incidence of GA in acute cerebral infarction across various antiplatelet Strategies. The marginal statistical difference in the incidence of GA between the single antiplatelet group and the DAPT group requires further investigation.

Association between vegetarian diet and gouty arthritis: A retrospective cohort study.

BACKGROUND AND AIMS: A vegetarian diet is rich in vegetables, fruits, and soy products. Although vegetarian diet is beneficial for improving the health outcomes such as body mass index, metabolic syndrome, cardiovascular disease, and mortality rate, the association between a vegetarian diet and gout incidence is not well known. METHODS AND RESULTS: We linked the MJ Health Survey Data and MJ Biodata 2000 with the National Health Insurance Research Database (NHIRD) and the National Registration of Death (2000-2018). Information on the diet was collected from the MJ Health Survey Data, and the incidence of gouty arthritis was confirmed using the NHIRD. The Kaplan-Meier survival curve and log-rank test were used to compare the differences between vegetarian and non-vegetarian participants. Cox regression models were used to estimate the risk of the incidence of gouty arthritis. Among 76,972 participants, 37,297 (48.46%) were men, 2488 (3.23%) were vegetarians and the mean age was 41.65 ± 14.13 years. The mean baseline uric acid level was 6.14 ± 1.65 mg/dL. A total of 16,897 participants developed gouty arthritis, including 16,447 (22.08%) non-vegetarians and 450 (18.9%) vegetarians over a mean follow-up of 19 years. Significant differences were observed in the Kaplan-Meier survival curves between vegetarians and non-vegetarians (log-rank p < 0.001). Vegetarians had a significantly decreased incidence of gouty arthritis compared with non-vegetarians (hazard ratio = 0.87, 95% confidence interval = 0.78-0.98, p = 0.02) after adjusting for potential confounders. CONCLUSION: People with a vegetarian diet had a significantly decreased risk of developing gouty arthritis compared with non-vegetarians in Taiwan.

Clinical Features and Risk Factors of Fever in Acute Gouty Arthritis.

Objectives: This study aimed to investigate the clinical characteristics and risk factors of fever in hospitalised patients with acute gouty arthritis (AGA). Methods: The clinical data of 167 hospitalised patients with AGA who met the inclusion criteria were retrospectively analysed. The demographic, clinical, and medication data of patients with and without fever were compared, and risk factors associated with fever were identified via logistic regression analysis. Results: The incidence of fever in hospitalised patients with AGA was 31.1%, with low-grade fever being predominant. Visual analogue scale (VAS) scores, white blood cell counts, neutrophil proportion, C-reactive protein (CRP) levels, and erythrocyte sedimentation rate (ESR) were higher in the fever group than in the non-fever group (P < 0.05 for all). In addition, the incidence rates of arthritis of single knee and polyarthritis were higher in patients in the fever group (P < 0.05). The proportion of patients who received betamethasone injection and combination therapy were higher in the fever group (P < 0.05). However, no significant differences were observed in age; sex; uric acid (UA) levels; and the incidence rate of hypertension, diabetes mellitus, cardiovascular disease, and renal function abnormalities between the two groups. Logistic regression analysis revealed that arthritis of single knee, polyarthritis, age of ≥65 years, CRP levels, and VAS scores were risk factors for concomitant AGA and fever. Among these factors, CRP levels and VAS scores were identified as independent risk factors (odds ratio [OR], 1.014 and 1.686, respectively; 95% confidence interval [CI], 1.004-1.025 and 1.115-2.549, respectively; P < 0.05 for both). Conclusion: The incidence of fever is high in hospitalised patients with AGA. Elderly patients, patients with arthritis affecting only one knee, and those with polyarthritis are predisposed to fever. In addition, the risk of developing fever increases with increasing VAS scores and CRP levels, and patients presenting with fever require enhanced anti-inflammatory and analgesic therapy.

The correlation of uric acid levels with biochemical parameters and dietary factors in individuals with asymptomatic hyperuricemia and gouty arthritis.

Diet may play an important role in the development of asymptomatic hyperuricemia (ASH) and gouty arthritis (GOUT). However, the association between dietary factors and hyperuricemia remains unclear. Serum uric acid levels are affected by dietary factors. This study aimed to evaluate the correlation of uric acid levels with biochemical parameters and dietary factors in individuals with ASH and GOUT. This study was conducted in 145 individuals with ASH and GOUT. General characteristics of individuals were collected via face-to-face interviews. Food frequency questionnaire was used to obtain energy, macro- and micronutrients intakes. Biochemical parameters were obtained from patient files. The incidence of gout was higher in men comparing to women. Individuals in the GOUT group consumed more alcohol and higher serum levels of vitamin B12, C-reactive protein (CRP), triglyceride, and uric acid. Individuals in the GOUT group had higher intakes of energy, protein, carbohydrate, fat, fructose, vitamin C, and vitamin B12. Triglyceride, uric acid, CRP, vitamin B12, and homeostatic model assessment of insulin resistance were found to be affected by high uric acid levels. Dietary factors can pose a risk for health problems in addition to GOUT and ASH, such as cardiovascular disease, diabetes, and obesity.

Factors associated with achieving target serum uric acid level and occurrence of gouty arthritis: A retrospective observational study of Japanese health insurance claims data.

PURPOSE: This study assessed factors associated with achieving target serum uric acid (sUA) level and occurrence of gouty arthritis in Japanese clinical practice. METHODS: Japanese health insurance claims and medical check-up data from October 2015 to March 2017 were analyzed to assess factors associated with target sUA achievement in gout and asymptomatic hyperuricemia and gouty arthritis in gout. Target sUA was further assessed by subgroup analysis of urate-lowering therapy (ULT) prescriptions and outcomes, stratified by renal function. RESULTS: Patients achieving target sUA tended toward older, female, higher ULT dose, higher adherence, more comorbidities, and/or antidiabetic drugs prescribed. Renal dysfunction and/or diuretic prescriptions were associated with reduced achievement of target sUA. Severe renal dysfunction was particularly influential (odds ratio [OR] = 0.22 [95% confidence interval (CI): 0.10-0.48] for <15, 0.15 [0.10-0.23] for ≥15 to <30, compared with eGFR ≥90 mL/min/1.73 m2 ). Across all renal function categories, mean prescribed ULT dose was low (febuxostat 17.0-21.0 mg/day, allopurinol 123.1-139.6 mg/day), and target sUA achievement was reduced among renal dysfunction patients. Gouty arthritis was more likely in patients with a prior history of such occurrences, and less likely for higher ULT adherence, sUA monitored regularly at medical facilities, and/or more comorbidities. CONCLUSION: In a real-world setting, severe renal dysfunction is the most important risk factor for failure to achieve the target sUA, suggesting suboptimal disease management in patients with gout or hyperuricemia complicated by this condition. Findings associated with gouty arthritis suggest that these occurrences could be successfully managed by regular monitoring of sUA and closer adherence to ULT.

Artritis Gotosa. 10 años de Seguimiento / Artritis Gotosa. 10 años de Seguimiento

Introduction: gouty arthritis is a persistent metabolic disease that produces an increase of the circulating uric acid, with the resulting deposit of monosodic urate crystals in the tissues. Objective: to characterize patients with gouty arthritis clinically and epidemiologically. Methods: a descriptive investigation of 72 patients with a diagnosis of gouty arthritis, assisted at Arnaldo Milián Castro Clinical Surgical University Hospital was carried out from January 2008 to December 2017. Results: patients between 40 and 49 years of age were the most representative group with a highest incidence in not white patients and the male sex. Obesity and hypertension prevailed as previous personal antecedents. Alcohol intake was the most represented toxic habit. A crisis of inflammation of the big toe was the more frequent starting manifestation. Swelling of soft tissues was the main radiologic alteration. Conclusion: gouty arthritis is present with a highest frequency in the male sex with a peak of incidence in the fourth decade of life. It is associated to bad diet habits and alcohol intake that could cause joint damage(AU)

Introducción: la artritis gotosa es una enfermedad metabólica persistente, que produce un aumento del ácido úrico circulante, con el consiguiente depósito de cristales de uratos monosódicos en los tejidos. Objetivo: caracterizar clínica y epidemiológicamente a los pacientes con artritis gotosa. Método: se realizó una investigación descriptiva de 72 pacientes con diagnóstico de artritis gotosa, atendidos en el Hospital Universitario Clínico Quirúrgico Arnaldo Milián Castro, entre enero del 2008 y diciembre del 2017. Resultados: los pacientes entre 40 y 49 años de edad fueron los más representativos, con mayor incidencia en no blancos y del sexo masculino. Predominó la obesidad y la hipertensión arterial como antecedentes patológicos personales. El alcohol fue el hábito tóxico mayoritariamente representado. La crisis de podagra resulto ser la manifestación inicial más usual. El aumento de partes blandas fue la principal alteración radiológica. Conclusiones: La gota se presenta con mayor frecuencia en el sexo masculino con un pico de incidencia en la cuarta década de la vida. Está asociada a malos hábitos dietéticos y al consumo de bebidas alcohólicas pudiendo ocasionar daño articular(AU)

Infectious versus non-infectious causes of oligoarticular inflammatory arthritis: A prospective study from a tertiary care hospital in north India.

Oligoarticular arthritis (inflammation of upto 4 joints) has a wide range of infectious and non-infectious etiologies. The aim of our study was to identify the features which could help in the differentiation of infectious from non-infectious arthritis. The study was prospective and observational, and included 100 patients with oligoarticular inflammatory arthritis. The final diagnosis was made using standard diagnostic criteria and the patients were categorized into infectious and non-infectious groups. Among the 100 patients who were recruited, the following final diagnosis were made: peripheral spondyloarthritis (n = 37), axial spondyloarthritis (n = 11), tuberculosis (n = 19), brucellosis (n = 6), septic arthritis (n = 6), gouty arthritis (n = 5), early rheumatoid arthritis (n = 5), non-tubercular mycobacteria (n = 2), SLE (n = 2), post-chikungunya arthritis (n = 2), acute lymphocytic leukaemia (n = 1), pachydermoperiostosis (n = 1), sarcoidosis (n = 1) and juvenile idiopathoic arthritis (n = 1). The patients were categorized into two groups: infectious (33) and non-infectious (60). The presence of monoarthritis, clinically-significant weight loss, hepatomegaly, splenomegaly and erosive arthritis were significantly more common in the infectious group as compared to the non-infectious group.

[Real World Management of Gouty Arthritis: Clinical, Epidemiological and Comorbidity Data from 4016 Patients in Rhineland-Palatinate, Germany]. / Realität der Versorgungssituation der Gicht: Daten zur Klinik, Epidemiologie und Komorbiditäten von 4016 Patienten in Rheinland-Pfalz.

BACKGROUND: To examine clinical, comorbidity and demographic aspects of gout and to explore the routine clinical practice of gout treatment among general practitioners (G.P.'s) in southwest Germany. METHODS: Gout specific questionnaires were sent to all G.P.'s in Rhineland Palatinate (RL-P), through the Panel physicians' Association. Questionnaires consisted of items exploring epidemiological, medication and comorbidity data. Moreover, questions regarding clinical gout manifestations were included with an extra focus on therapy-refractory cases. Finally, G.P.'s were asked to rate the current care status of gout. RESULTS: Data from 4016 gout patients (age at diagnosis: 62.8 years, IQR 55 - 67.8) were collected. The majority of patients were male (75 %) with podagra being the most common gout manifestation (85 %). Chronic tophaceous courses were reported in 15 % (median 10 %, IQR 2 - 20) and spinal involvement in 2.7 % (median 0 %, IQR 0 - 2) of patients respectively. An average of 11.3 % cases (median 10 %, IQR 2.3 - 20) were defined as "hard-to-treat". However, biologic agents were not namely reported as applied treatments. 32 % of patients were diagnosed with gout by their G.P., whereas 68 % had to visit further physicians. A definite diagnosis could be reached after 3.1 months on average (median 0.3, IQR 0.1 - 1). CONCLUSIONS: In the era of biologic therapies there is a need for optimization of gout management. Important targets are the shortening of diagnostic periods and the prevention of chronic disease courses. Critical awareness of the disease and its comorbidities, standardized treatment and patient-training could be important steps toward this direction.

Differential risk group of developing stroke among older women with gouty arthritis: A latent transition analysis.

OBJECTIVE: Gout-related comorbidities are intricate and its clinical features may demonstrate sex difference; however, few studies have evaluated the links between comorbidities and gout in a female population. The objectives of this study were to compare the aggregation and transitive trajectories of comorbidities of gout, and their consequences in female and male gout populations. METHODS: A prospective cohort study was conducted using data from the Taiwan National Health Insurance Research Database. A female and male gout population were followed up from 2000 to 2009 to identify the comorbidities of cardiovascular disease, hyperlipidemia, hypertension, diabetes mellitus (DM) and chronic kidney disease. The cumulative incidence of stroke from 2000 to 2010 was examined. A latent trajectory analysis was used to determine the transitive trajectories of the comorbidities of gout. RESULTS: Both female and male patients with gout had five risk cluster transition (CT) phenotypes of comorbidities within 10-year follow-up: CT1 and CT2, with various persistent comorbidities; CT3, with few persistent comorbidities; and CT4 and CT5, with transfer to cluster 1 from other clusters. The female participants in CT2 predominantly experienced DM and were associated with significantly increased risk of developing stroke. CONCLUSION: Diabetes is a notable risk factor for the development of stroke in female patients with gout. Early assessment and management for the comorbidities of gout, particularly in DM, would effectively reduce future stroke risk in female gout population.

Cancer risk associated with chronic diseases and disease markers: prospective cohort study.

OBJECTIVES: To assess the independent and joint associations of major chronic diseases and disease markers with cancer risk and to explore the benefit of physical activity in reducing the cancer risk associated with chronic diseases and disease markers. DESIGN: Prospective cohort study. SETTING: Standard medical screening program in Taiwan. PARTICIPANTS: 405 878 participants, for whom cardiovascular disease markers (blood pressure, total cholesterol, and heart rate), diabetes, chronic kidney disease markers (proteinuria and glomerular filtration rate), pulmonary disease, and gouty arthritis marker (uric acid) were measured or diagnosed according to standard methods, were followed for an average of 8.7 years. MAIN OUTCOME MEASURES: Cancer incidence and cancer mortality. RESULTS: A statistically significantly increased risk of incident cancer was observed for the eight diseases and markers individually (except blood pressure and pulmonary disease), with adjusted hazard ratios ranging from 1.07 to 1.44. All eight diseases and markers were statistically significantly associated with risk of cancer death, with adjusted hazard ratios ranging from 1.12 to 1.70. Chronic disease risk scores summarizing the eight diseases and markers were positively associated with cancer risk in a dose-response manner, with the highest scores associated with a 2.21-fold (95% confidence interval 1.77-fold to 2.75-fold) and 4.00-fold (2.84-fold to 5.63-fold) higher cancer incidence and cancer mortality, respectively. High chronic disease risk scores were associated with substantial years of life lost, and the highest scores were associated with 13.3 years of life lost in men and 15.9 years of life lost in women. The population attributable fractions of cancer incidence or cancer mortality from the eight chronic diseases and markers together were comparable to those from five major lifestyle factors combined (cancer incidence: 20.5% v 24.8%; cancer mortality: 38.9% v 39.7%). Among physically active (versus inactive) participants, the increased cancer risk associated with chronic diseases and markers was attenuated by 48% for cancer incidence and 27% for cancer mortality. CONCLUSIONS: Chronic disease is an overlooked risk factor for cancer, as important as five major lifestyle factors combined. In this study, chronic diseases contributed to more than one fifth of the risk for incident cancer and more than one third of the risk for cancer death. Physical activity is associated with a nearly 40% reduction in the cancer risk associated with chronic diseases.

Association between acute gouty arthritis and meteorological factors: An ecological study using a systematic review and meta-analysis.

OBJECTIVES: The aims of this study were as follows: (1) to analyze the literature systematically regarding the seasonal and monthly variation of the occurrence of episodes of acute gouty arthritis, and (2) to investigate the relationship between the occurrence of episodes of acute gouty arthritis and meteorological parameters. METHODS: The present authors systematically reviewed databases for articles published before November 2015. Studies with quantitative data on episodes of acute gouty arthritis by months and/or seasons were included. Meteorological data such as the highest temperature, lowest temperature, diurnal temperature range, change in mean temperature between neighboring days, relative humidity and wind speed for the geographic place(s), and study period where and when each study took place were obtained from meteorological websites. RESULTS: Ten studies published between 1920 and 2015 were included. A meta-analysis by season showed that acute gouty arthritis occurred significantly more frequently in spring than in other seasons. Analysis by month showed an increase in episodes of acute gouty arthritis from March to July, being the highest in July. The trend reversed, and episodes of acute gouty arthritis started decreasing from July to September, being the lowest in September. The change in mean temperature between neighboring days was the only meteorological parameter that was significantly correlated with the number of monthly episodes of acute gouty arthritis. CONCLUSIONS: Acute gouty arthritis seems to develop more frequently during the period in which the temperature increases significantly between neighboring days: spring by season and between March and July by month in the northern hemisphere.

Longitudinal transition trajectory of gouty arthritis and its comorbidities: a population-based study.

The aim of the study was to investigate the longitudinal transition trajectory of gout and its comorbidities in male patients with gout in different age groups. A total of 3973 male patients who received a new diagnosis of gouty arthritis were identified from the Taiwan Longitudinal Health Insurance Database and divided into two age cohorts (<50 and ≥50 years). Each patient was individually followed from 2000 to 2009 to identify associated comorbidities, namely hypertension, hypercholesterolemia, diabetes mellitus, cardiovascular diseases, and chronic kidney disease. Two outcome measurements of stroke and all-cause cancer were further identified until 2010. The transition trajectory was divided into the following five phenotype groups: persistent hypertension combined with a high prevalence of various gout-related comorbidities, persistent hypercholesterolemia combined with a moderate prevalence of various gout-related comorbidities, persistent low prevalence of various gout-related comorbidities, moderate to high prevalence of various gout-related comorbidities, and low to high prevalence of various gout-related comorbidities. Although the younger and older patients had a similar longitudinal transition trajectory of gout-related comorbidities, the older patients had a higher 10-year likelihood of transition from a low or moderate to a high prevalence of various gout-related comorbidities. In addition, the incidences of stroke and all-cause cancer were higher in the groups with high and moderate to high prevalences of various gout-related comorbidities than in the other groups. The occurrence of gouty arthritis in different life stages can cause cluster effects involving varying degrees of comorbidities over time. The findings of the current study can provide additional knowledge and increase clinical awareness regarding the early assessment and management of gout-related comorbidities in clinical practice.

Risk of acute gout among active smokers: data from nationwide inpatient sample.

Smoking has been found to be negatively correlated with serum uric acid levels by virtue of reduced production and increased consumption of endogenous antioxidant uric acid among smokers and has been reported to decrease incidence of gout. To shed further light on the question of association between active smoking and acute gout by examining this association using a large inpatient US database, using the Nationwide Inpatient Sample data from 2009 to 2011, we identified current smokers based on the International Classification of Diseases, Ninth Revision (ICD-9) code 305.1 and were assumed to have ceased smoking during hospital stay. Patients who developed acute gout inhospital were identified based on ICD-9 code 274.01 at secondary diagnosis position. Univariate and multivariate logistic regressions were used to derive odds ratio for measures of association. Statistical analysis was done using STATA version 13.0 (College Station, TX). A total of 17,847,045 discharge records were used which included 13,932 (0.08 %) inhospital acute gouty arthritis and 2,615,944 (14.66 %) active smokers. Both univariate (OR 0.59, CI 0.54-0.63, p < 0.0001) and multivariate (OR 0.64, CI 0.59-0.68, p < 0.0001) regressions showed statistically significant reduction of acute gout among hospitalized patients who were current smokers but were assumed to have ceased smoking during hospital stay. Active tobacco use was associated with a lower risk of acute inpatient gouty arthritis, even when controlling for conventional risk factors. More study is needed to correlate this finding with uric acid levels, and a better understanding of the mechanisms that explain this finding are necessary.

Estudio sobre la validez discriminante de la ecografía de entesis aquílea / Discriminant validity study of Achilles enthesis ultrasound

Objetivo. Analizar si la exploración ecográfica del tendón de Aquiles es diferente en las espondiloartritis respecto de otras enfermedades reumáticas. Material y métodos. Se estudia a 97 pacientes divididos en 5 grupos: artritis reumatoide, espondiloartritis, gota, condrocalcinosis y artrosis, explorándose 6 lesiones elementales en las 194 entesis de Aquiles examinadas. Resultados. En nuestro estudio, el índice total ecográfico en tendón de Aquiles es mayor en el grupo de espondiloartritis con diferencias significativas. La lesión elemental que peor discrimina las espondilitis respecto de otras patologías es la presencia de calcificaciones. Conclusiones. Este estudio pretende demostrar la validez discriminante de la entesitis aquílea observada por ecografía en las espondiloartritis en comparación con otras enfermedades reumatológicas que también pueden presentar alteraciones ecográficas a nivel de dicha entesis (AU)

Objective. We want to know if the ultrasound examination of the Achilles tendon in spondyloarthritis is different compared to other rheumatic diseases. Material and methods. We studied 97 patients divided into five groups: rheumatoid arthritis, spondyloarthritis, gout, chondrocalcinosis and osteoarthritis, exploring six elementary lesions in 194 Achilles entheses examined. Results. In our study the total index ultrasonographic Achilles is higher in spondyloarthritis with significant differences. The worst elementary spondyloarthritis lesions for discriminations against other pathologies were calcification. Conclusions. This study aims to demonstrate the discriminant validity of Achilles enthesitis observed by ultrasound in spondyloarthritis compared with other rheumatic diseases that may also have ultrasound abnormalities such enthesis level (AU)

Seasonal variation in acute gouty arthritis: data from Nationwide Inpatient Sample.

INTRODUCTION: Studies describing seasonal variations in acute gouty arthritis note seasonal variation, but disagree on timing, with most showing a peak in spring months while others show peaks later in the year. Various theories on the effect of weather and immune system changes on the chronobiology of monosodium urate crystals' equilibrium and precipitation have been proposed. We aimed to shed light on this question by examining the seasonal variation in the incidence of acute gouty arthritis in the USA using a large inpatient database. METHODS: We used the Nationwide Inpatient Sample (NIS) database to identify patients aged ≥18 years with primary diagnosis of acute gouty arthritis (International Classification of Diseases, 9th Revision, Clinical Modification code 274.01) from 2009-2011 during hospitalization. We used the Edwards recognition and estimation of cyclic trend method to study the seasonal variation of the incidence of acute gout and z-test to compare the seasonal incidences. RESULTS: A total of 28,172 hospitalizations with primary diagnosis of acute gouty arthritis were reported in the USA from 2009-2011. The peak incidence of acute gout was seen in November (peak/low ratio 1.34, 95 % CI 1.29-1.38, p < 0.05). The highest number of hospitalizations was observed in autumn months while the lowest incidence was observed in spring (28.12 vs. 23.13 %, p < 0.001). CONCLUSION: The peak incidence of acute gout seems to be in the fall with its peak in the month of November. This seasonality may shed light into the pathophysiology of acute attacks and better management of patients with gout who are at risk of acute attacks.

Musculoskeletal manifestations of Fabry disease: A retrospective study.

OBJECTIVES: Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available. METHODS: We conducted a single-center retrospective study of patients receiving follow-up at a Fabry disease referral center. We described the musculoskeletal manifestations and analyzed the differential diagnoses. RESULTS: Our study included 40 patients belonging to 20 families, including 25 females with a mean age of 44.2 years (range, 20-76 years) and 15 males with a mean age of 40.1 years (range, 16-61 years). Mean age at the diagnosis of Fabry disease was 37.2 years (range, 7-71 years) in the females and 26.9 years (range, 9-51 years) in the males. Specific enzyme replacement therapy was given to 10 (40%) females and 12 (80%) males. Musculoskeletal manifestations were as follows: past or present pain in the extremities (13 females and 10 males), combined in some patients with vasomotor disorders in the extremities and telangiectasia; exercise intolerance (12 females and 12 males); osteoporotic fractures (2 brothers aged 45 and 44 years, respectively); osteoporosis (3 females, aged 57, 63, and 75 years, respectively), which contributed to death in the oldest patient; osteopenia (2 females aged 38 and 47 years, respectively; and 1 male aged 43 years); Charcot foot and lymphedema with serious infectious complications (4 males older than 40 years), with avascular osteonecrosis of the lower limbs in 2 cases; toe amputations (3 cases); bilateral lower-limb amputation (1 case); abnormally slender lower limbs (5 females and 8 males); acute gout (3 males with severe chronic kidney failure); and carpal tunnel syndrome (1 female and 1 male, both younger than 40 years). Mistaken diagnoses that were made at an early stage, contributing to delay the identification of Fabry disease, included rheumatic fever (2 females and 2 males), growing pains (2 males), pain with paralysis (1 female), chilblains of the lower limbs (1 female), and erythermalgia (1 female). In adulthood, the following mistaken diagnoses were made: Sjögren's syndrome and/or sicca syndrome (6 females), systemic sclerosis (1 male), dysautonomia (1 female), and familial Mediterranean fever (1 female). CONCLUSION: The diagnosis of Fabry disease is usually delayed, due to confusion with more common disorders. Musculoskeletal manifestations may constitute the presenting symptoms. Past or present pain in the extremities is typical. Osteoporosis may develop early and become severe. Together with the family history, the presence of musculoskeletal manifestations can lead to the correct diagnosis by prompting alpha-galactosidase assays in males and genetic testing in females. Fabry disease is often responsible for musculoskeletal manifestations, of which the most common are pain in the extremities and osteoporosis. These manifestations can be inaugural and lead to diagnostic wanderings. They require specific treatment strategies.

Diagnostic Arthrocentesis for Suspicion of Gout Is Safe and Well Tolerated.

OBJECTIVE: To determine the frequency of adverse events of diagnostic arthrocentesis in patients with possible gout. METHODS: Consecutive patients underwent arthrocentesis and were evaluated at 6 weeks to determine adverse events. The 95% CI were obtained by bootstrapping. RESULTS: Arthrocentesis was performed in 910 patients, and 887 (97.5%) were evaluated for adverse events. Any adverse event was observed in 12 participants (1.4%, 95% CI 0.6-2.1). There was 1 case (0.1%, 95% CI 0-0.34) of septic arthritis. CONCLUSIONS: Diagnostic arthrocentesis is associated with a low frequency of adverse events. Septic arthritis rarely occurs.

A prospective evaluation of ultrasound as a diagnostic tool in acute microcrystalline arthritis.

INTRODUCTION: The performance of ultrasound (US) in the diagnosis of acute gouty (MSU) arthritis and calcium pyrophosphate (CPP) arthritis is not yet well defined. Most studies evaluated US as the basis for diagnosing crystal arthritis in already diagnosed cases of gout and few prospective studies have been performed. METHODS: One hundred nine consecutive patients who presented an acute arthritis of suspected microcrystalline arthritis were prospectively included. All underwent an US of the symptomatic joints(s) and of knees, ankles and 1(st) metatarsopalangeal (MTP) joints by a rheumatologist "blinded" to the clinical history. 92 also had standard X-rays. Crystal identification was the gold standard. RESULTS: Fifty-one patients had MSU, 28 CPP and 9 had both crystals by microscopic analysis. No crystals were detected in 21. One had septic arthritis. Based on US signs in the symptomatic joint, the sensitivity of US for both gout and CPP was low (60% for both). In gout, the presence of US signs in the symptomatic joint was highly predictive of the diagnosis (PPV = 92%). When US diagnosis was based on an examination of multiple joints, the sensitivity for both gout and CPP rose significantly but the specificity and the PPV decreased. In the absence of US signs in all the joints studied, CPP arthritis was unlikely (NPV = 87%) particularly in patients with no previous crisis (NPV = 94%). X-ray of the symptomatic joints was confirmed to be not useful in diagnosing gout and was equally sensitive or specific as US in CPP arthritis. CONCLUSIONS: Arthrocenthesis remains the key investigation for the diagnosis of microcrystalline acute arthritis. Although US can help in the diagnostic process, its diagnostic performance is only moderate. US should not be limited to the symptomatic joint. Examination of multiple joints gives a better diagnostic sensitivity but lower specificity.