Mistaken Identity: Many Diagnoses are Frequently Misattributed to Lyme Disease

BackgroundPrior studies have demonstrated that Lyme disease is frequently over-diagnosed. However, few studies describe which conditions are misdiagnosed as Lyme disease.MethodsThis retrospective observational cohort study evaluated patients who lacked evidence for Borrelia burgdorferi infection referred for Lyme disease to a Mid-Atlantic academic center from 2000-2013. The primary outcome is clinically described diagnoses contributing to symptoms. Secondary outcomes included symptom duration and determination whether diagnoses were new or attributed to existing medical conditions.ResultsOf 1261 referred patients, 1061 (84%) had no findings of active Lyme disease, with 690 (65%) receiving other diagnoses; resulting in 405 (59%) having newly diagnosed medical conditions, 134 (19%) attributed to pre-existing medical issues, and 151 (22%) with both new and pre-existing conditions. Among the 690 patients, the median symptom duration was 796 days, and a total of 139 discrete diagnoses were made. Infectious disease diagnoses comprised only 3.2%. Leading diagnoses were anxiety/depression 222 (21%), fibromyalgia 120 (11%), chronic fatigue syndrome 77 (7%), migraine disorder 74 (7%), osteoarthritis 62 (6%), and sleep disorder/apnea 48 (5%). Examples of less frequent but non-syndromic diseases newly diagnosed included multiple sclerosis (n = 11), malignancy (n = 8), Parkinson's disease (n = 8), sarcoidosis (n = 4), or amyotrophic lateral sclerosis (n = 4).ConclusionsMost patients with long-term symptoms have either new or pre-existing disorders accounting for their symptoms other than Lyme disease, suggesting overdiagnosis in this population. Patients referred for consideration of Lyme disease for chronic symptoms deserve careful assessment for diagnoses other than Borrelia burgdorferi infection.     

Estudio de sero-epidemiología de la infección por SARS-CoV-2 en profesionales sanitarios de un departamento sanitario

ObjectiveEstimate IgG antibody prevalence against SARS-CoV-2 in healthcare personnel (HCP) of a healthcare department (HD).MethodPrevalence study. The presence of IgG antibodies against SARS-CoV-2 was determined in HCP of the HD. Enzyme linked immunosorbent assays (ELISA) tests were used. Field work took place from April 24, 2020 to May 8, 2020. The age, sex, occupation (physician, nurse, etc.) and the work area (Primary Care, Emergency Room, etc.) were gathered. The IgG antibody prevalence was then calculated with its 95% confidence interval (95% CI). To study the association between HCP characteristics and the presence IgG the Chi Square test was used, and to study the magnitude of association, the Odds Ratio (95% CI) was calculated.ResultsOf the 4813 HCP in the HD, 4179 (87,1%) participated. Of these, 73,3% (3065) were women and 26,7% (1114) men. The global prevalence of IgG antibodies against SARS-CoV-2 was 6,6% (95% CI: 5,8-7,3). There were statistically significant differences depending on the occupation, from 8,7% (95% CI: 6,9-10,6) on medics down to 3,2% (95% CI: 1,0-8,0) on personnel not associated with health care. The other characteristics did not associate significantly to antibody presence against SARS-CoV-2.ConclusionThe SARS-CoV-2 infection frequency in HCP is similar to the estimated in the general population for big cities in Spain. This highlights the effectiveness of the infection control and prevention programme in this healthcare department targeted at healthcare personnel.     

Enfermedad de Lyme

Lyme disease (LD) is a worldwide-distributed multisystemic process caused by Borrelia burgdorferi sensu lato (s.l.) and transmitted by hard ticks. In fact, it is the most common tick-borne infectious disease in the northern hemisphere. In Spain it is transmitted by Ixodes ricinus ticks and Borrelia garinii is the genoespecies of B. burgdorferi s.l. mostly involved in our area. LD is known as “the last great imitator” due to the broad clinical spectrum that may cause. Except in the case of erythema migrans (pathognomonic feature of the disease), the remaining clinical manifestations should be confirmed using microbiological tests.This review is intended to provide readers a current vision of the etiology, epidemiology, clinical manifestations, laboratory diagnosis and treatment of Lyme disease in our environment. Controversial aspects arising from the use of non-validated microbiological tests that are being used without scientific rigor are highlighted.     

Prevalence of inhaled allergen-specific IgE antibody positivity in the healthy Japanese population

BackgroundMeasurement of allergen-specific IgE antibodies to inhaled allergens is important for the diagnosis and risk evaluation of allergic diseases such as asthma and allergic rhinitis. This study aimed to elucidate the prevalence of allergen sensitization among the healthy population in Japan using serum samples stocked in the Japanese Red Cross for blood donation.MethodsAge- and gender-stratified serum samples (n = 800) from residents in Tokyo aged 20–59 years were randomly selected from the stocked serum obtained for blood donation in 2005. Total and specific IgE antibodies to 17 inhaled allergens were measured by the ImmunoCAP method. Individuals with positive (≥0.35 U_A/mL) specific IgE antibodies to at least one inhaled allergen were defined as atopic. Stocked serums from donors aged 20–29 years in Sapporo, Osaka, Fukuoka, and Okinawa (n = 200 each) were also obtained for the measurement of IgE to six common inhaled allergens, to evaluate regional differences in the rate of positivity.ResultsAmong residents in Tokyo, the prevalence of atopy was 78.0% and highest in men aged 20–29 years (94.0%), which decreased with age. The prevalence of specific IgE antibodies was highest for Japanese cedar pollen (66.8%), followed by cypress pollen (46.8%), Dermatophagoides pteronyssinus (38.3%), and moths (30.1%). Examination of IgE to Japanese cedar pollen, D. pteronyssinus, and moths identified 97.6% of atopic subjects in Tokyo. There were substantial regional differences in the prevalence of pollen IgE positivity.ConclusionsThis study demonstrated an extremely high prevalence of positivity in inhaled allergen-specific IgE antibodies among healthy adults in Japan.     

Prevalence of antibodies to Borrelia burgdorferi sensu stricto in humans from a Cuban village

Lyme disease has not been officially reported in Cuba. However, clinical cases have been serologically reported. Seroprevalence survey of Borrelia burgdorferi sensu stricto antibodies in humans in the country has not been conducted.ObjectiveTo estimate the prevalence of borrelial antibodies in inhabitants of a village with historically high level of tick infestation.MethodsSerum specimens from 247 persons randomly selected from the population of the village were examined by IgG Western blot using B31 strain for estimating the prevalence of antibodies profile.ResultsA seroprevalence value interval (95% CI) of 0.6%–7.2% was estimated for the studied population. The prevalent borrelial protein bands on immunoblots were 41, 72, 90/93, 34, 47, 60, 58, 56, 65/66 and 31 kDa in a decreasing order of significance.ConclusionThese results support the previous serological findings, suggesting the presence of this borreliosis in Cuba.     

NKT cells prevent chronic joint inflammation after infection with Borrelia burgdorferi

Borrelia burgdorferi is the etiologic agent of Lyme disease, a multisystem inflammatory disorder that principally targets the skin, joints, heart, and nervous system. The role of T lymphocytes in the development of chronic inflammation resulting from B. burgdorferi infection has been controversial. We previously showed that natural killer T (NKT) cells with an invariant (i) TCR α chain (iNKT cells) recognize glycolipids from B. burgdorferi, but did not establish an in vivo role for iNKT cells in Lyme disease pathogenesis. Here, we evaluate the importance of iNKT cells for host defense against these pathogenic spirochetes by using Vα14i NKT cell-deficient (Jα18^−/−) BALB/c mice. On tick inoculation with B. burgdorferi, Jα18^−/− mice exhibited more severe and prolonged arthritis as well as a reduced ability to clear spirochetes from infected tissues. Vα14i NKT cell deficiency also resulted in increased production of antibodies directed against both B. burgdorferi protein antigens and borrelial diacylglycerols; the latter finding demonstrates that anti-glycolipid antibody production does not require cognate help from Vα14i NKT cells. Vα14i NKT cells in infected wild-type mice expressed surface activation markers and produced IFNγ in vivo after infection, suggesting a participatory role for this unique population in cellular immunity. Our data are consistent with the hypothesis that the antigen-specific activation of Vα14i NKT cells is important for the prevention of persistent joint inflammation and spirochete clearance, and they counter the long-standing notion that humoral rather than cellular immunity is sufficient to facilitate Lyme disease resolution.     

Registro Español de Trasplante Cardiaco. XXIV Informe Oficial de la Sección de Insuficiencia Cardiaca y Trasplante Cardiaco de la Sociedad Española de Cardiología (1984-2012)

Introduction and objectivesThe present article reports the characteristics and results of heart transplantation in Spain since this therapeutic modality was first used in May 1984.MethodsWe summarize the main features of recipients, donors, and surgical procedures, as well as the results of all heart transplantations performed in Spain until December 31, 2012.ResultsA total of 247 heart transplantations were performed in 2012. The whole series consisted of 6775 procedures. Recent years have seen a progressive worsening in the clinical characteristics of recipients (34% aged over 60 years, 22% with severe kidney failure, 17% with insulin-dependent diabetes, 29% with previous heart surgery, 16% under mechanical ventilation) and donors (38% aged over 45 years, 26% with recipient: donor weight mismatch>20%), and in surgical conditions (29% of procedures at >4 h ischemia and 36% as emergency transplantations). The probability of survival at 1, 5, 10, and 15 years of follow-up was 78%, 67%, 53%, and 38%, respectively. These results have remained stable since 1995.ConclusionsIn recent years, the number of heart transplantations/year in Spain has remained stable at around 250. Despite the worsening of recipient and donor clinical characteristics and of time-to-surgery, the results in terms of mortality have remained stable and compare favorably with those of other countries.Full English text available from: www.revespcardiol.org/en     

Laboratory Biosafety: Sentinel surveillance of Lyme disease risk in Canada, 2019: Results from the first year of the Canadian Lyme Sentinel Network (CaLSeN)

BackgroundLyme disease is an emerging vector-borne zoonotic disease of increasing public health importance in Canada. As part of its mandate, the Canadian Lyme Disease Research Network (CLyDRN) launched a pan-Canadian sentinel surveillance initiative, the Canadian Lyme Sentinel Network (CaLSeN), in 2019.ObjectivesTo create a standardized, national sentinel surveillance network providing a real-time portrait of the evolving environmental risk of Lyme disease in each province.MethodsA multicriteria decision analysis (MCDA) approach was used in the selection of sentinel regions. Within each sentinel region, a systematic drag sampling protocol was performed in selected sampling sites. Ticks collected during these active surveillance visits were identified to species, and Ixodes spp. ticks were tested for infection with Borrelia burgdorferi, Borrelia miyamotoi, Anaplasma phagocytophilum, Babesia microti and Powassan virus.ResultsIn 2019, a total of 567 Ixodes spp. ticks (I. scapularis [n=550]; I. pacificus [n=10]; and I. angustus [n=7]) were collected in seven provinces: British Columbia, Manitoba, Ontario, Québec, New Brunswick, Nova Scotia and Prince Edward Island. The highest mean tick densities (nymphs/100 m²) were found in sentinel regions of Lunenburg (0.45), Montréal (0.43) and Granby (0.38). Overall, the Borrelia burgdorferi prevalence in ticks was 25.2% (0%–45.0%). One I. angustus nymph from British Columbia was positive for Babesia microti, a first for the province. The deer tick lineage of Powassan virus was detected in one adult I. scapularis in Nova Scotia.ConclusionCaLSeN provides the first coordinated national active surveillance initiative for tick-borne disease in Canada. Through multidisciplinary collaborations between experts in each province, the pilot year was successful in establishing a baseline for Lyme disease risk across the country, allowing future trends to be detected and studied.     

Prevalencia de los marcadores de infección de los virus de las hepatitis en pacientes portadores del VIH en el sur de España

Objectives

To determine: (a) The prevalence of active infection by the hepatitis C virus (HCV) and hepatitis B virus (HBV) in HIV-infected patients, as well as previous exposure to hepatitis A virus (HAV), HBV and HCV. (b) The proportion of patients who have been vaccinated against HAV and/or HBV. (c) The HCV genotype distribution and the percentage of patients who have started treatment against HCV infection.

Methods

All HIV-infected patients who attended the Infectious Diseases Unit of a tertiary care hospital in Southern Spain between September 2008 and February 2009 were included in a prospective cross-sectional study.

Results

A total of 520 patients were included. Three hundred and fifty-eight (69%) patients had positive HCV antibody, while 71% of them showed detectable HCV-RNA. The HCV genotype distribution was: 153 (62%) genotype 1, 49 (20%) genotype 3, and 45 (18%) genotype 4. One hundred and thirteen (36.5%) subjects had received treatment against HCV. The prevalence of active HBV infection was 4.4%, while the exposure to HBV was 54.8%. Four hundred and thirty-seven (84%) patients had positive markers of infection of HAV. Of the patients eligible to be vaccinated, 25.6% and 22.3% patients were vaccinated against HAV and HBV, respectively.

Conclusions

The current prevalence of active HCV infection remains high in our area. There were no changes in the HCV genotype distribution. The number of patients with indication for HBV and HAV vaccination and receive these vaccines is low.     

Characteristics and clinical outcomes after treatment of a national cohort of PCR-positive Lyme arthritis

ObjectivesTo describe the clinical and microbiological characteristics and outcomes after antibiotic treatment of a national cohort of patients with Lyme arthritis confirmed by PCR testing on synovial fluid and by serology, when available.MethodsUsing the French National Reference Center for Borrelia database, patients with a positive PCR on synovial fluid for Borrelia were identified. Patient clinical and biological characteristics were reviewed from patient records. Long-term outcomes after treatment were studied through a questionnaire and with follow-up data.ResultsAmong 357 synovial fluid testing by PCR between 2010 and 2016, 37 (10.4%) were positive for Borrelia. Patients’ median age was 36 years (range 6–78) with 61% of men and 28% patients under 18. The presentation was monoarticular in 92% and the knee was involved in 97%. Contrary to the Borrelia species repartition in European ticks, B. burgdorferi sensu stricto was the most prevalent species found in synovial fluid (54%) followed by B. azfelii (29%) and B. garinii (17%). Antibiotic treatments were mainly composed of doxycycline (n = 24), ceftriaxone (n = 10) and amoxicillin (n = 6), for a median duration of 4 weeks (range 3–12). Despite a properly conducted treatment, 34% of patients (n = 12) developed persistent synovitis for at least 2 months (median duration 3 months, range 2–16). Among those, 3 developed systemic inflammatory oligo- or polyarthritis in previously unaffected joints with no signs of persistent infection (repeated PCR testing negative), which mandated Disease-Modifying Antirheumatic Drugs (DMARD) introduction, leading to remission.ConclusionIn France and contrary to ticks ecology, Lyme arthritis is mainly caused by B. burgdorferi sensu stricto. Despite proper antibiotic therapy, roughly one third of patients may present persistent inflammatory synovitis and a small proportion may develop systemic arthritis. In such cases, complete remission can be reached using DMARD.     

Asymptomatic Leishmania infantum infection in blood donors living in an endemic area,northeastern Italy

ObjectivesHuman leishmaniasis can be severe and fatal, yet in the Mediterranean region only a small percentage of infections progress to clinical disease. We evaluated the percentage of asymptomatic Leishmania infection in the Bologna province, northeastern Italy.MethodsWe examined the presence of specific antibodies by Western Blot (WB) and parasitic DNA by real time PCR in peripheral blood of 240 blood donors residing in the Bologna province.ResultsAnti-Leishmania IgG were detected by WB in 27 subjects (11.2%, 95% CI 7%-15%), while Leishmania kinetoplast DNA was detected in peripheral blood specimens of 4 out of 240 donors (1.7%, 95% CI 0.2%-3.2%). Overall, the prevalence of Leishmania infection in the blood donor cohort was 12.5%, thus indicating an elevated cumulative exposure to the Leishmania parasite in the examined municipality.ConclusionsOur results suggest that a surveillance system for monitoring Leishmania infection in blood donors and/or strategies of protozoan inactivation in whole blood should be taken into consideration in areas with circulation of the Leishmania parasite.     

Análisis de la atención al infarto con elevación del segmento ST en España. Resultados del Registro de Código Infarto de la ACI-SEC

Introduction and objectivesST-segment elevation myocardial infarction (STEMI) networks should guarantee STEMI care with good clinical results and within the recommended time parameters. There is no contemporary information on the performance of these networks in Spain. The objective of this study was to analyze the clinical characteristics of patients, times to reperfusion, characteristics of the intervention performed, and 30-day mortality.MethodsProspective, observational, multicenter registry of consecutive patients treated in 17 STEMI networks in Spain (83 centers with the Infarction Code), between April 1 and June 30, 2019.ResultsA total of 5401 patients were attended (mean age, 64 ± 13 years; 76.9% male), of which 4366 (80.8%) had confirmed STEMI. Of these, 87.5% were treated with primary angioplasty, 4.4% with fibrinolysis, and 8.1% did not receive reperfusion. In patients treated with primary angioplasty, the time between symptom onset and reperfusion was 193 [135-315] minutes and the time between first medical contact and reperfusion was 107 [80-146] minutes. Overall 30-day mortality due to STEMI was 7.9%, while mortality in patients treated with primary angioplasty was 6.8%.ConclusionsMost patients with STEMI were treated with primary angioplasty. In more than half of the patients, the time from first medical contact to reperfusion was < 120 minutes. Mortality at 30 days was relatively low.Full English text available from:www.revespcardiol.org/en     

Resultados en España de la encuesta de la Sociedad Europea de Cardiología sobre terapia de resincronización cardiaca (CRT-Survey II)

Introduction and objectivesWe describe the results for Spain of the Second European Cardiac Resynchronization Therapy Survey (CRT-Survey II) and compare them with those of the other participating countries.MethodsWe included patients undergoing CRT device implantation between October 2015 and December 2016 in 36 participating Spanish centers. We registered the patients’ baseline characteristics, implant procedure data, and short-term follow-up information until hospital discharge.ResultsImplant success was achieved in 95.9%. The median [interquartile range] annual implantation rate by center was significantly lower in Spain than in the other participating countries: 30 implants/y [21-50] vs 55 implants/y [33-100]; P = .00003. In Spanish centers, there was a lower proportion of patients ≥ 75 years (27.9% vs 32.4%; P = .0071), a higher proportion in NYHA class II (46.9% vs 36.9%, P < .00001), and a higher percentage with electrocardiographic criteria of left bundle branch block (82.9% vs 74.6%; P < .00001). The mean length of hospital stay was significantly lower in Spanish centers (5.8 ± 8.5 days vs 6.4 ± 11.6; P < .00001). Spanish patients were more likely to receive a quadripolar LV lead (74% vs 56%, P < .00001) and to be followed up by remote monitoring (55.8% vs 27.7%; P < .00001).ConclusionsThe CRT-Survey II shows that, compared with other participating countries, fewer patients in Spain aged ≥ 75 years received a CRT device, while more patients were in New York Heart Association functional class II and had left bundle branch block. In addition, the length of hospital stay was shorter, and there was greater use of quadripolar LV leads and remote CRT monitoring.Full English text available from:www.revespcardiol.org/en     

IgA anti-beta-2 glycoprotein I antibodies in chronic hepatitis C

Background and study aimsAntiphospholipid antibodies (aPL) have been reported not only in various autoimmune conditions but also in other infections, such as chronic hepatitis C (CHC) infection. The aim of this study is to evaluate the frequency of aPL in patients with CHC.Patients and methodsNinety-six CHC patients and 90 healthy blood donors (HBD) were studied. Fifty-three of the patients were under treatment, and 43 had not yet received any treatment. IgG, IgA, and IgM antibodies against cardiolipin (aCL) and beta-2 glycoprotein I (aβ2GPI) were detected by ELISA.ResultsWe found that the frequency of aPL (aCL and/or aβ2GPI) was significantly higher in CHC patients than in controls (51% vs 11.1%, p <10^?6). The frequencies of aCL and aβ2GPI were significantly higher in patients than in HBD (27.1% vs 5.5%, p < 10^?3, and 44.8% vs 11.1%, p < 10^?6, respectively). The isotype distribution of aCL and aβ2GPI demonstrated that aCL-IgG and aβ2GPI-IgA were more frequent in patients than in healthy subjects (21.9% vs 2.2%, p < 10^?3, and 38.5% vs 7.8%, p < 10^?6, respectively). In CHC patients, the frequency of aβ2GPI was significantly higher than that of aCL (44.8% vs 27.1%, p = 0.01). aβ2GPI-IgA was significantly more frequent than aβ2GPI-IgG (38.5% vs 7.3%, p <10^?6), aβ2GPI-IgM (38.5% vs 9.4%, p <10^?3), and aCL-IgG (38.5% vs 21.9%, p = 0.01). No difference in aPL frequency was observed between the treated and untreated patients.ConclusionOn the basis of the findings of this study, aPL, particularly aβ2GPI-IgA and aCL-IgG, are frequent in CHC patients.     

Registro Español de Trasplante Cardiaco. XXXI Informe Oficial de la Asociación de Insuficiencia Cardiaca de la Sociedad Española de Cardiología

Introduction and objectivesThe present report describes the clinical characteristics and outcomes of heart transplants in Spain and updates the data to 2019.MethodsWe describe the clinical characteristics and outcomes of heart transplants performed in Spain in 2019, as well as trends in this procedure from 2010 to 2018.ResultsIn 2019, 300 transplants were performed (8794 since 1984; 2745 between 2010 and 2019). Compared with previous years, the most notable findings were the decreasing rate of urgent transplants (38%), and the consolidation of the type of circulatory support prior to transplant, with an almost complete disappearance of counterpulsation balloon (0.7%), stabilization in the use of extracorporeal membrane oxygenation (9.6%), and an increase in the use of ventricular assist devices (29.0%). Survival from 2016 to 2018 was similar to that from 2013 to 2015 (P = .34). Survival in both these periods was better than that from 2010 to 2012 (P = .002 and P = .01, respectively).ConclusionsHeart transplant activity has remained stable during the last few years, as have outcomes (in terms of survival). There has been a trend to a lower rate of urgent transplants and to a higher use of ventricular assist devices prior to transplant.Full English text available from:www.revespcardiol.org/en     

Trends of COPD in Spain: Changes Between Cross Sectional Surveys 1997, 2007 and 2017

IntroductionWe aim to describe the changes in prevalence and risk factors associated to chronic obstructive pulmonary disease (COPD) in Spain, comparing three population-based studies conducted in three timepoints.MethodsWe compared participants from IBERPOC conducted in 1997, EPISCAN conducted in 2007 and EPISCAN II in 2017. COPD was defined as a postbronchodilator FEV₁/FVC (forced expiratory volume in 1 s/forced vital capacity) ratio <0.70, according to GOLD criteria; subsequently, also as the FEV₁/FVC below the lower limit of normal (LLN).ResultsCOPD prevalence in the population between 40 and 69 years decreased from 21.6% (95% CI 20.7%–23.2%) in 1997 to 8.8% (95% CI 8.2%–9.5%) in 2017, a 59.2% decline (p < 0.001).In 2007, the prevalence was 7.7% (95% CI 6.8%–8.7%) with an upward trend of 1.1 percentage points in 2017 (p = 0.073). Overall COPD prevalence decreased in men and women, although a significant increase was observed in the last decade in females (p < 0.05). Current smokers significantly increased in the last decades (25.4% in 1997, 29.1% in 2007 and 23.4% in 2017; p < 0.001). Regrettably, COPD underdiagnosis was constantly high, 77.6% in 1997, 78.4% in 2007, and to 78.2% in 2017 (p = 0.95), higher in younger ages (40–49 yrs and 50–59 yrs) and also higher in women than in men in all three studies (p < 0.05).ConclusionsWe report a significant reduction of 59.2% in the prevalence of COPD in Spain from 1997 to 2017 in subjects aged 40–69 years. Our study highlights the significant underdiagnosis of COPD, particularly sustained in women and younger populations.     

Sustitución valvular aórtica convencional aislada en España: tendencias nacionales de riesgo,tipo de prótesis y mortalidad entre 1998 y 2017

Introduction and objectivesTo help to illustrate the trends in isolated surgical aortic valve replacement (SAVR) in Spain, we performed a national-level analysis to investigate the changes from 1998 to 2017 in a) SAVR volume, b) patients’ risk profiles, c) in-hospital mortality, and d) types of aortic valve prostheses.MethodsWe included all episodes of patients undergoing isolated SAVR from January 1998 to December 2017 recorded in the Minimum Basic Data Set (Ministry of Health, Consumer Affairs, and Social Welfare, Spain). The study duration was divided into four 5-year periods. We analyzed the trends in SAVR volume, comorbidity prevalence, and in-hospital mortality. Through multivariate logistic regression, we identified factors associated with mortality and type of prosthesis. The risk-adjusted mortality rate was compared over the study period.ResultsIn total, 73 668 patients underwent an isolated SAVR from 1998 to 2017. The annual volume of procedures increased from 16 363 between 1998 and 2002 to 22 685 between 2013 and 2017. The prevalence of all investigated comorbidities increased, except for history of previous myocardial infarction and unplanned admission. The Charlson comorbidity index worsened from 1998-2002 (2.3; SD, 1.4) to 2013-2017 (3.6; SD, 1.7) (P < .001). In-hospital mortality decreased from 7.2% to 3.3% (P < .001) while the risk-adjusted mortality index improved from 1.3 to 0.7. The proportion of bioprostheses increased from 20.7% (1998-2002) to 59.6% (2013-2017) (P < .001).ConclusionsWe detected an increase in the annual SAVR volume in Spain, with more patients receiving bioprostheses. Despite an increased risk profile of the patients, in-hospital mortality substantially reduced.Full English text available from:www.revespcardiol.org/en     

Rendimiento diagnóstico de la secuenciación de genes de hipercolesterolemia familiar en sujetos con hipercolesterolemia primaria

Introduction and objectivesOur objective was to approximate the prevalence of mutations in candidate genes for familial hypercholesterolemia (FH) in a middle-aged Spanish population and to establish the predictive value of criteria for clinical suspicion in the detection of causative mutations.MethodsUnrelated individuals aged ≥ 18 years from the Aragon Workers’ Health Study (AWHS) with high low-density lipoprotein cholesterol (LDL-C) and clinical suspicion of FH (participants with LDL-C concentrations above the 95th percentile, participants with premature cardiovascular disease and/or participants with high LDL-C [130 mg/dL] under statin therapy), assuming that any participant with FH exhibits at leats 1 trait, were selected and the LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 genes were sequenced by next generation sequencing technology.ResultsOf 5400 individuals from the AWHS, 4514 had complete data on lipid levels and lipid-lowering drugs, 255 participants (5.65%) met the criteria for suspicion of FH, 24 of them (9.41%) were diagnosed with hyperlipoproteinemia(a), and 16 (6.27% of those sequenced) were found to carry causative mutations in candidate genes: 12 participants carried 11 different pathogenic LDLR alleles and 4 participants carried 1 pathogenic mutation in PCSK9. LDL-C concentrations > 220 mg/dL and LDL-C > 130 mg/dL despite statin therapy showed the strongest association with the presence of mutations (P = .011).ConclusionsOur results show that the prevalence of FH in Spain is 1:282 and suggest that the combination of high untreated LDL-C and high levels of LDL-C despite statin therapy are the best predictors of a positive FH genetic test.