Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community.

This study screened for Fabry disease (FD) in patients in hemodialysis (HD) in the region of Madrid (CAM) with a cross-sectional design to evaluate HD-prevalent patients, followed by a three-year period prospective design to analyze HD-incident patients. INCLUSION CRITERIA: patients older than 18 years on HD in the CAM, excluding patients diagnosed with any other hereditary disease with renal involvement different from FD, that sign the Informed Consent (IC). EXCLUSION CRITERIA: underaged patients or not agreeing or not being capable of signing the IC. RESULTS: 3470 patients were included, 63% males and with an average age of 67.9±9.7 years. 2357 were HD-prevalent patients and 1113 HD-incident patients. For HD-prevalent patients, average time in HD was 45.2 months (SD 51.3), in HD-incident patients proteinuria was present in 28.4%. There were no statistical differences in plasmatic alpha-galactosidase A (α-GAL-A) activity or Lyso-GL-3 values when comparing HD-prevalent and HD-incident populations and neither between males and females. A genetic study was performed in 87 patients (2.5% of patients): 60 male patients with decreased enzymatic activity and 27 female patients either with a decreased GLA activity, increased Lyso-Gl3 levels or both. The genetic variants identified were: p.Asp313Tyr (4 patients), p.Arg220Gln (3 patients) and M290I (1 patient). None of the identified variants is pathogenic. CONCLUSIONS: 76% of HD Centers of the CAM participated in the study. This is the first publication to describe the prevalence of FD in the HD-population of a region of Spain as well as its average α-GAL-A-activity and plasmatic Lyso-Gl3 levels. It is also the first study that combines a cross-sectional design with a prospective follow-up design. This study has not identified any FD patient.

Hipertensión pulmonar en pacientes en hemodiálisis: prevalencia y factores asociados / Pulmonary hypertension in hemodialysis patients: Prevalence and associated factors

Introducción y objetivo: La hipertensión pulmonar (HTP) es un trastorno progresivo que puede deberse a enfermedades subyacentes o a una alteración intrínseca de la vascularización pulmonar. El aumento crónico de la presión en el árbol vascular pulmonar lleva a cambios en la arquitectura de los vasos que perpetúan la propia HTP y producen disfunción ventricular derecha; todo esto podría disminuir la supervivencia y calidad de vida de los pacientes. El objetivo de este estudio es establecer la prevalencia de HTP en los pacientes en hemodiálisis y su asociación con factores propios de este grupo de pacientes. Material y métodos: Incluimos a un total de 202 pacientes prevalentes en hemodiálisis durante al menos 6 meses y estables clínicamente, se recogieron datos demográficos, parámetros analíticos de rutina y los datos de un ecocardiograma doppler-2D. Definimos HTP como una presión sistólica de arteria pulmonar (PSAP) estimada mediante ecografía doppler por encima de 35 mmHg. El estado de hidratación se valoró mediante la determinación de los niveles de fragmento N terminal del péptido natriurético cerebral (Nt-proBNP). Resultados: La prevalencia de HTP fue del 37,1% (75 pacientes). La media de PSAP en toda la población estudiada fue de 32 ± 12 mmHg y en el grupo con HTP de 45 ± 11 mmHg. Encontramos una correlación directa estadísticamente significativa entre la presencia de HTP y la edad (p = 0,001), el tiempo en tratamiento renal sustitutivo (p = 0,04), la presencia de disfunción sistólica (p = 0,007), disfunción diastólica (p = 0,01), valvulopatía mitral (p = 0,01) y doble lesión mitral y aórtica (p = 0,007). La sobrecarga de volumen se asocia estrechamente con HTP como se demuestra por la correlación entre la PSAP y los niveles de Nt-ProBNP (p = 0,001). Conclusión: Concluimos que la prevalencia de HTP en los pacientes en hemodiálisis es alta y uno de los factores asociados más importante es la hipervolemia. Son necesarios más estudios para establecer el impacto de la HTP sobre la morbimortalidad de los pacientes y valorar si un mejor control de la volemia lleva a mejoría de la HTP (AU)

Background and objective: Pulmonary hypertension (PH) is a progressive disorder that can be caused by several underlying conditions or an intrinsic alteration of the pulmonary vasculature. Chronic increased pressure in the pulmonary vasculature leads to changes in the architecture of the vessels that can perpetuate PH and produce right ventricular dysfunction. These structural and functional alterations can decrease survival and quality of life of patients on hemodialysis; however, there is a lack of evidence about this problem in this population. The aim of this study is to establish the prevalence of PH in patients on hemodialysis and its association with specific factors related to this patient population. Material and methods: We included 202 prevalent patients on hemodialysis for at least 6 months and who were clinically stable. We collected demographic data, routine laboratory parameters and data of 2D Doppler-echocardiography. PH was defined as a systolic pulmonary artery pressure (SPAP) estimated by Doppler ultrasound above 35 mmHg. Hydration status was assessed by determining the plasma concentration of N-terminal pro brain natriuretic peptide (Nt-proBNP). Results: PH prevalence was 37.1% (75 patients). The average SPAP in the entire study population was 32 ± 12 mmHg and in the group with PH it was 45 ± 11 mmHg. We found a direct and statistically significant correlation between the presence of PH and age (P = .001), time on renal replacement therapy (P = .04), the presence of systolic dysfunction (P = .007), diastolic dysfunction (P = 01), mitral valve disease (P = .01) and double mitral and aortic disease (P = .007). Volume overload was closely associated with PH, as demonstrated by the correlation between the SPAP and Nt-proBNP levels (P = .001). Conclusion: We conclude that prevalence of PH in hemodialysis patients is high. And one of the most important associated factors is volume overload. More studies are needed to establish the impact of PH on morbidity and mortality of patients and to assess whether a better volume control improves PH (AU)

Pulmonary hypertension is an independent predictor of cardiovascular events and mortality in haemodialysis patients.

AIM: The evidence about prevalence, associated factors of pulmonary hypertension (PH) and its impact on patient's outcomes is limited. METHODS: We included 211 haemodialysis patients, we estimated the systolic pulmonary artery pressure (SPAP) by 2D Doppler echocardiography defining PH as a SPAP above 35 mmHg, the median follow-up was 39 (19-56) moths, and the primary endpoints were all cause mortality and cardiovascular events. RESULTS: We found PH in 91 patients (43.9%). Independent determinants of PH were age, previous cardiovascular disease, the Nt-pro-BNP level hs-TnT, the systolic dysfunction, diastolic dysfunction and left ventricular hypertrophy. Over the follow-up 94 cardiovascular events occurred, variables associated were: PH, age, history cardiovascular disease, dyslipidaemia, elevated concentration of Nt-pro-BNP and hs-TnT, systolic and diastolic dysfunction, in a multivariate model, the PH maintained its independent association. Mortality data: 88 patients died (41.7%); 35 (29.5%) in the no PH group and 53 (58.5%) in the PH group (P < 0.001). In the Cox survival analysis, we found an association between mortality and age, previous cardiovascular disease, history of peripheral vascular disease, Nt-pro-BNP levels. In a multivariate model the PH remains as independent predictor of mortality. CONCLUSIONS: Pulmonary hypertension is a common finding in HD patients and a valuable predictor of mortality and cardiovascular events. Prospective studies are needed to assess the effect of intervention on risk factors in improving patient's outcomes.

[Pulmonary hypertension in hemodialysis patients: Prevalence and associated factors]. / Hipertensión pulmonar en pacientes en hemodiálisis: prevalencia y factores asociados.

BACKGROUND AND OBJECTIVE: Pulmonary hypertension (PH) is a progressive disorder that can be caused by several underlying conditions or an intrinsic alteration of the pulmonary vasculature. Chronic increased pressure in the pulmonary vasculature leads to changes in the architecture of the vessels that can perpetuate PH and produce right ventricular dysfunction. These structural and functional alterations can decrease survival and quality of life of patients on hemodialysis; however, there is a lack of evidence about this problem in this population. The aim of this study is to establish the prevalence of PH in patients on hemodialysis and its association with specific factors related to this patient population. MATERIAL AND METHODS: We included 202 prevalent patients on hemodialysis for at least 6 months and who were clinically stable. We collected demographic data, routine laboratory parameters and data of 2D Doppler-echocardiography. PH was defined as a systolic pulmonary artery pressure (SPAP) estimated by Doppler ultrasound above 35mmHg. Hydration status was assessed by determining the plasma concentration of N-terminal pro brain natriuretic peptide (Nt-proBNP). RESULTS: PH prevalence was 37.1% (75 patients). The average SPAP in the entire study population was 32±12mmHg and in the group with PH it was 45±11mmHg. We found a direct and statistically significant correlation between the presence of PH and age (P=.001), time on renal replacement therapy (P=.04), the presence of systolic dysfunction (P=.007), diastolic dysfunction (P= 01), mitral valve disease (P=.01) and double mitral and aortic disease (P=.007). Volume overload was closely associated with PH, as demonstrated by the correlation between the SPAP and Nt-proBNP levels (P=.001). CONCLUSION: We conclude that prevalence of PH in hemodialysis patients is high. And one of the most important associated factors is volume overload. More studies are needed to establish the impact of PH on morbidity and mortality of patients and to assess whether a better volume control improves PH.